What are birth defects

Birth defects are structural or functional abnormalities present at birth that can cause physical disability, intellectual and developmental disability and other health problems ¹. Some birth defects are minor and cause little, if any, long term problems. Other birth defects are life threatening or cause significant disability. Most birth defects happen during the first 3 months of pregnancy. About one out of every 33 babies in the United States is born with a birth defect ², that is every 4.5 minutes, a baby is born with a birth defect in the United States. About 150,000 babies are born in the United States with a birth defect each year, many with conditions so rare that most parents — and even some physicians — have never heard of them ³.

Researchers have identified thousands of different birth defects, and some are more disruptive than others. If not detected and treated quickly, some can be fatal or cause lifelong disabilities. Currently, the Centers for Disease Control and Prevention notes that birth defects are the leading cause of death for infants during the first year of life.

Birth defects are structural changes present at birth that can affect almost any part or parts of the body (e.g., heart, brain, foot). Birth defects may affect how the body looks, works, or both. Birth defects can vary from mild to severe. The well-being of each child affected with a birth defect depends mostly on which organ or body part is involved and how much it is affected. Depending on the severity of the defect and what body part is affected, the expected lifespan of a person with a birth defect may or may not be affected.

Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can range from mild to severe.

Not all birth defects can be prevented. But a woman can take steps to increase her own chance of having a baby with the best health possible.

There are things that a woman can do before and during pregnancy to increase her chance of having a healthy baby:

• Be sure to see your healthcare provider regularly and start prenatal care as soon as you think you might be pregnant.
• Get 400 micrograms (mcg) of folic acid every day, starting at least one month before getting pregnant.
• Don’t drink alcohol, smoke, or use “street” drugs.
• Talk to a healthcare provider about any medications you are taking or thinking about taking. This includes prescription and over-the-counter medications and dietary or herbal supplements. Don’t stop or start taking any type of medication without first talking with a doctor.
• Learn how to prevent infections during pregnancy.
• If possible, be sure any medical conditions are under control, before becoming pregnant. Some conditions that increase the risk for birth defects include diabetes and obesity.

Causes of birth defects can include:

• Genetics
• Exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome.
• Infections during pregnancy
• Certain medicines. Before you get pregnant, talk to your health care provider about any medicines you take.
• Not getting enough of certain nutrients. For example, not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.

For most birth defects, the cause is unknown.

Health care providers can diagnose certain birth defects during pregnancy, with prenatal tests. That’s why it important to get regular prenatal care. Other birth defects may not be found until after the baby is born. Sometimes the defect is obvious right away. Other times, the health care provider may not discover it until later in life.

Babies who have birth defects often need special care and interventions to survive and to thrive developmentally. The treatments may include surgery, medicines, assistive devices, and therapies.

State birth defects tracking programs provide one way to identify and refer children as early as possible for services they need. Early intervention is vital to improving outcomes for these babies. If your child has a birth defect, you should ask his or her doctor about local resources and treatment. Geneticists, genetic counselors, and other specialists are another resource.

Types of birth defects

There are two main categories of birth defects.

Structural Birth Defects

Structural birth defects are related to a problem with the structure of body parts. These can include:

• Cleft lip or cleft palate
• Heart defects, such as missing or misshaped valves
• Abnormal limbs, such as a clubfoot
• Neural tube defects, such as spina bifida, and problems related to the growth and development of the brain and spinal cord

Functional or Developmental Birth Defects

Functional or developmental birth defects are related to a problem with how a body part or body system works or functions. These problems can include:

• Nervous system or brain problems.These include intellectual and developmental disabilities, behavioral disorders, speech or language difficulties, seizures, and movement trouble. Some examples of birth defects that affect the nervous system include Down syndrome, Prader-Willi syndrome, and Fragile X syndrome.
• Sensory problems. Examples include hearing loss and visual problems, such as blindness or deafness.
• Metabolic disorders. These involve problems with certain chemical reactions in the body, such as conditions that limit the body’s ability to rid itself of waste materials or harmful chemicals. Two common metabolic disorders are phenylketonuria and hypothyroidism.
• Degenerative disorders. These are conditions that might not be obvious at birth but cause one or more aspects of health to steadily get worse. Examples of degenerative disorders are muscular dystrophy and X-linked adrenoleukodystrophy, which leads to problems of the nervous system and the adrenal glands and was the subject of the movie “Lorenzo’s Oil.”

Some birth defects affect many parts or processes in the body, leading to both structural and functional problems.

What are signs of birth defects during pregnancy?

Birth defects can be diagnosed during pregnancy or after the baby is born, depending on the specific type of birth defect.

During Pregnancy: Prenatal Testing

Screening Tests

A screening test is a procedure or test that is done to see if a woman or her baby might have certain problems. A screening test does not provide a specific diagnosis—that requires a diagnostic test (see below). A screening test can sometimes give an abnormal result even when there is nothing wrong with the mother or her baby. Less often, a screening test result can be normal and miss a problem that does exist. During pregnancy, women are usually offered these screening tests to check for birth defects or other problems for the woman or her baby. Talk to your doctor about any concerns you have about prenatal testing.

First Trimester Screening

First trimester screening is a combination of tests completed between weeks 11 and 13 of pregnancy. It is used to look for certain birth defects related to the baby’s heart or chromosomal disorders, such as Down syndrome. This screen includes a maternal blood test and an ultrasound.

• Maternal Blood Screen
  • The maternal blood screen is a simple blood test. It measures the levels of two proteins, human chorionic gonadotropin (hCG) and pregnancy associated plasma protein A (PAPP-A). If the protein levels are abnormally high or low, there could be a chromosomal disorder in the baby.
• Ultrasound
  • An ultrasound creates pictures of the baby. The ultrasound for the first trimester screen looks for extra fluid behind the baby’s neck. If there is increased fluid found on the ultrasound, there could be a chromosomal disorder or heart defect in the baby.

Second Trimester Screening

Second trimester screening tests are completed between weeks 15 and 20 of pregnancy. They are used to look for certain birth defects in the baby. Second trimester screening tests include a maternal serum screen and a comprehensive ultrasound evaluation of the baby looking for the presence of structural anomalies (also known as an anomaly ultrasound).

• Maternal Serum Screen
  • The maternal serum screen is a simple blood test used to identify if a woman is at increased risk for having a baby with certain birth defects, such as neural tube defects or chromosomal disorders such as Down syndrome. It is also known as a “triple screen” or “quad screen” depending on the number of proteins measured in the mother’s blood. For example, a quad screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. Generally, the maternal serum screen is completed during the second trimester.
• Anomaly Ultrasound
  • An ultrasound creates pictures of the baby. This test is usually completed around 18–20 weeks of pregnancy. The ultrasound is used to check the size of the baby and looks for birth defects or other problems with the baby.

Diagnostic Tests

If the result of a screening test is abnormal, doctors usually offer further diagnostic tests to determine if birth defects or other possible problems with the baby are present. These diagnostic tests are also offered to women with higher risk pregnancies, which may include women who are 35 years of age or older; women who have had a previous pregnancy affected by a birth defect; women who have chronic diseases such as lupus, high blood pressure, diabetes, or epilepsy; or women who use certain medications.

• High resolution Ultrasound
  • An ultrasound creates pictures of the baby. This ultrasound, also known as a level II ultrasound, is used to look in more detail for possible birth defects or other problems with the baby that were suggested in the previous screening tests. It is usually completed between weeks 18 and 22 of pregnancy.
• Chorionic Villus Sampling (CVS)
  • Chorionic Villus Sampling (CVS) is a test where the doctor collects a tiny piece of the placenta, called chorionic villus, which is then tested to check for chromosomal or genetic disorders in the baby. Generally, a chorionic villus sampling (CVS) test is offered to women who received an abnormal result on a first trimester screening test or to women who could be at higher risk. It is completed between 10 and 12 weeks of pregnancy, earlier than an amniocentesis.
• Amniocentesis
  • An amniocentesis is test where the doctor collects a small amount of amniotic fluid from the area surrounding the baby. The fluid is then tested to measure the baby’s protein levels, which might indicate certain birth defects. Cells in the amniotic fluid can be tested for chromosomal disorders, such as Down syndrome, and genetic problems, such as cystic fibrosis or Tay-Sachs disease. Generally, an amniocentesis is offered to women who received an abnormal result on a screening test or to women who might be at higher risk. It is completed between 15 and 18 weeks of pregnancy. Below are some of the proteins for which an amniocentesis tests.
  • AFP: AFP stands for alpha-fetoprotein, a protein the unborn baby produces. A high level of alpha-fetoprotein (AFP) in the amniotic fluid might mean that the baby has a defect indicating an opening in the tissue, such as a neural tube defect (anencephaly or spina bifida), or a body wall defect, such as omphalocele or gastroschisis.
  • AChE: AChE stands for acetylcholinesterase, an enzyme that the unborn baby produces. This enzyme can pass from the unborn baby to the fluid surrounding the baby if there is an opening in the neural tube.

After the Baby is Born

Certain birth defects might not be diagnosed until after the baby is born. Sometimes, the birth defect is immediately seen at birth. For other birth defects including some heart defects, the birth defect might not be diagnosed until later in life.

When there is a health problem with a child, the primary care provider might look for birth defects by taking a medical and family history, doing a physical exam, and sometimes recommending further tests. If a diagnosis cannot be made after the exam, the primary care provider might refer the child to a specialist in birth defects and genetics. A clinical geneticist is a doctor with special training to evaluate patients who may have genetic conditions or birth defects. Even if a child sees a specialist, an exact diagnosis might not be reached.

Birth defects list

• Anencephaly
• Anophthalmia / Microphthalmia
• Anotia/Microtia
• Cleft Lip / Cleft Palate
• Congenital Heart Defects
  • Atrial Septal Defect
  • Atrioventricular Septal Defect
  • Coarctation of the Aorta
  • D-Transposition of the Great Arteries
  • Hypoplastic Left Heart Syndrome
  • Pulmonary Atresia
  • Tetralogy of Fallot
  • Total Anomalous Pulmonary Venous Return
  • Tricuspid Atresia
  • Truncus Arteriosus
  • Ventricular Septal Defect
• Craniosynostosis
• Diaphragmatic Hernia
• Down Syndrome
• Encephalocele
• Esophageal Atresia
• Gastroschisis
• Hypospadias
• Microcephaly
• Omphalocele
• Spina Bifida
• Upper and Lower Limb Reduction Defects

Table 1. National estimates for 21 selected major birth defects, 2004–2006

Birth Defects*	Cases per Births	Estimated Annual Number of Cases
Adjusted for maternal race/ethnicity**
Central nervous system defects (brain and spinal cord)
Anencephaly	1 in 4,859	859
Spina bifida without anencephaly	1 in 2,858	1,460
Encephalocele	1 in 12,235	341
Eye defects
Anophthalmia/microphthalmia	1 in 5,349	780
Cardiovascular defects (heart)
Common truncus (also called Truncus arteriosus)	1 in 13,876	301
Transposition of great arteries	1 in 3,333	1,252
Tetralogy of Fallot	1 in 2,518	1,657
Atrioventricular septal defect	1 in 2,122	1,966
Hypoplastic left heart syndrome	1 in 4,344	960
Orofacial defects (middle of the face)
Cleft palate without cleft lip	1 in 1,574	2,651
Cleft lip with or without cleft palate	1 in 940	4,437
Gastrointestinal defects (esophagus, stomach, and intestines)
Esophageal atresia/tracheoesophageal fistula	1 in 4,608	905
Rectal and large intestinal atresia/stenosis	1 in 2,138	1,952
Musculoskeletal defects (muscles and bones)
Reduction deformity, upper limbs	1 in 2,869	1,454
Reduction deformity, lower limbs	1 in 5,949	701
Gastroschisis	1 in 2,229	1,871
Omphalocele	1 in 5,386	775
Diaphragmatic hernia	1 in 3,836	1,088
Adjusted for maternal age**
Chromosomal anomalies (extra chromosomes)
Trisomy 13	1 in 7,906	528
Trisomy 18	1 in 3,762	1,109
Trisomy 21 (Down syndrome)	1 in 691	6,037

Footnote: The 21 selected major birth defects do not include genitourinary birth defects, including hypospadias.

*The national estimates data come from 14 birth defects tracking programs: Arkansas, Arizona, California [8-county Central Valley], Colorado, Georgia [5-county metropolitan Atlanta], Illinois, Iowa, Kentucky, Massachusetts, North Carolina, Oklahoma, Puerto Rico, Texas, and Utah. The number of live births represented by these 14 programs from 2004–2006 was 4,038,506.
** For this study, researchers took into account the mother’s race/ethnicity and the mother’s age (for Trisomy 13, 18, and 21), which allows state and local programs to use these estimates as a point of reference for comparison with future estimates. Adjustments are based on the United States live birth population, 2004–2006.

[Source ⁴ ]

Differences in Birth Defect Occurrence by Race/Ethnicity

Many birth defects vary by racial or ethnic group. Investigating these differences will help us to understand why some birth defects occur more or less often in certain groups, and will lead to future efforts to reduce these differences.

Listed below are birth defects that have significantly higher or lower occurrence in selected racial and ethnic groups when compared to non-Hispanic white.

The American Journal of Public Health published a new study ⁵ that examined the occurrence of major birth defects across multiple racial and ethnic groups. Using 12 state-based birth defects tracking systems, this is to date the largest study conducted to look at racial and ethnic differences in the United States for a range of birth defects.

• Compared with non-Hispanic whites, American Indians/Alaska Natives had a significantly higher occurrence of ⁵:
  • Anotia/Microtia (ear defects)
  • Cleft lip with or without cleft palate
  • Trisomy 18
  • Encephalocele (serious defect of the skull and brain)
  • Limb deficiency (when part or all of the arm or leg fails to form completely during pregnancy)
• Cubans and Asians, especially Chinese and Asian Indians, had significantly lower occurrence of many of the studied birth defects, compared to non-Hispanic whites.
• Some of the studied birth defects had very different rates of occurrence across the racial and ethnic groups (either much higher or much lower occurrence compared to non-Hispanic whites). Conditions that showed substantial variation across the racial and ethnic groups include anotia/microtia, spina bifida (a defect of the spine), and Down syndrome.
• The researchers recommend further investigation to determine why there appeared to be a relatively high occurrence of certain birth defects in American Indians/Alaska Natives.

Table 2. Differences in Birth Defect Occurrence by Race/Ethnicity

	Much higher occurrence1	Much lower occurrence2
American Indian/Alaska Native, Non-Hispanic	Encephalocele Anotia/Microtia Cleft lip with or without cleft palate Limb deficiency Trisomy 18 (Edwards syndrome)	Hypospadias
Asian, Non-Hispanic		Spina bifida without anencephaly Truncus arteriosus Aortic valve stenosis Hypoplastic left heart syndrome Coarctation of the aorta Esophageal atresia Pyloric stenosis Hypospadias Gastroschisis Omphalocele
Black, Non-Hispanic	Encephalocele Trisomy 18 (Edwards syndrome)	Aortic valve stenosis Cleft lip with or without cleft palate Pyloric stenosis Gastroschisis
Hispanic	Anencephaly Encephalocele Anotia/Microtia	Hypospadias

Footnote: These estimates come from data from 12 birth defects tracking programs: Arizona, Colorado, Florida, Georgia [metropolitan Atlanta], Illinois, Massachusetts, Michigan, Nebraska, New Jersey, New York, North Carolina, and Texas. This study included 13.5 million live U.S. births from 1999 to 2007, meaning 1 of every 3 births in the United States during that time period was included in the study. Even though programs try to collect information on all occurrences, some birth defects might not be captured by programs if the outcome is not a live birth. This could underestimate the occurrences of some birth defects.

1 These conditions were found to have significantly higher occurrences in the noted races and ethnicities compared to non-Hispanic white.
2 These conditions were found to have significantly lower occurrences in the noted races and ethnicities compared to non-Hispanic white.

[Source ⁶ ]

Birth Defects Survival by Race/Ethnicity

The Journal of Pediatrics ⁷ has published a new study looking at the survival of babies with major birth defects in the United States using data from 1999-2007. The study also compared survival across racial-ethnic groups. Researchers found that for most types of birth defects, there were small to moderate differences in infant and early childhood survival between racial and ethnic groups. This study, one of the largest studies of survival among children with birth defects in the United States, provides important information for those involved in developing health policies and planning for services. For information specific to your child and your child’s prognosis, it is important to consult your healthcare provider.

Survival of babies and children with birth defects can vary by racial or ethnic group. Understanding these differences can provide important information for those involved in developing health policies and planning for services.

Key findings from the study ⁷:

• For most birth defects studied, survival was poorer among babies born to non-Hispanic black and Hispanic mothers, compared to babies born to non-Hispanic white mothers.
  • Small to moderate differences in survival during the first 28 days of life were seen between racial/ethnic groups.
  • Compared to babies born to non-Hispanic white mothers,
    • survival from 28 days to 1 year of age was poorer among babies born to non-Hispanic black mothers for 13 of the 21 birth defects studied.
    • survival from 28 days to 1 year of age was poorer among babies born to Hispanic mothers for 10 of the 21 birth defects.
• Children with hypoplastic left heart syndrome had the lowest chance of survival across multiple ages (up to 28 days of life, 1 year of life, 2 years of life, and 8 years), compared to children with any other birth defects studied.
• For babies born with the birth defects listed below, their chances of survival up to 1 year of life was greater than 90%:
  • Spina bifida
  • Cleft palate
  • Cleft lip with or without cleft palate
  • Pyloric stenosis
  • Gastroschisis
  • Down syndrome
• Future studies should examine survival among babies or children who needed surgery, those who had another condition requiring a hospital stay or other procedure, and those who had a severe or complex type of specific birth defects. Because medical care and treatment are improving, survival of babies with birth defects continues to improve over time. CDC and the National Birth Defects Prevention Network will work together to update these estimates in the future as data becomes available.

Note: The study covered about 39% of U.S. live births during the study period from 1999-2007.

Table 3. Survival of babies and children with selected birth defects

Birth Defects	Chance of survival to age 1 a	Chance of survival to age 8 b
Central Nervous System Defects
Spina bifida without anencephalus	91.9%	90.2%
Encephalocele	72.1%	69.9%
Congenital Heart Defects
Common truncus	75.1%	71.5%
Transposition of great arteries	83.7%	81.0%
Tetralogy of Fallot	87.1%	84.6%
Atrioventricular septal defect (AVSD) (without Down syndrome)	71.0%	67.2%
Aortic valve stenosis	83.6%	81.5%
Hypoplastic left heart syndrome	55.2%	50.4%
Coarctation of the aorta	84.5%	81.8%
Orofacial Defects
Cleft palate without cleft lip	91.0%	90.3%
Cleft lip with or without cleft palate	91.6%	90.8%
Gastrointestinal Defects
Esophageal atresia/tracheoesophageal fistula	84.6%	83.8%
Pyloric stenosis	99.5%	99.3%
Rectal, anal and large intestinal atresia/stenosis	87.0%	86.1%
Musculoskeletal Defects
Upper limb deficiencies	89.3%	88.2%
Lower limb deficiencies	88.6%	88.2%
Diaphragmatic hernia	68.7%	68.0%
Gastroschisis	92.8%	92.1%
Omphalocele	71.4%	71.2%
Chromosomal Defects
Trisomy 21 (Down syndrome)	94.1%	92.8%

Footnote:

a Children born in 1999-2007 from Arizona, Colorado, Florida, Georgia, Illinois, Massachusetts, Michigan, Nebraska, New Jersey, New York, North Carolina, and Texas.
b Children born in 1999-2005 from Arizona, Colorado, Florida, Georgia, Massachusetts, Michigan, New Jersey, New York, North Carolina, and Texas.

[Source ⁸ ]

What causes birth defects

Different birth defects have different causes, and the causes of many birth defects remain unknown.

A specific condition might be caused by one or more of the following primary problems ⁹:

• Genetic problems. One or more genes might have a change or mutation that results in them not working properly, such as in Fragile X syndrome. Similarly, a gene or part of the gene might be missing.
• Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing, such as in Turner syndrome, when a female is missing an X chromosome. Other birth defects result from having an extra chromosome, such as in Klinefelter syndrome and Down syndrome.
• Infections. Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. For example, infection with Zika virus during pregnancy is linked with the birth defect called microcephaly, in which the brain and skull are smaller than normal. Zika infection in pregnancy is linked to other structural problems with the brain as well.
• Exposure to medications, chemicals, or other agents during pregnancy. The infants whose mothers took thalidomide are examples of an exposure leading to birth defects. Other examples include exposure to rubella (also called German measles) and toxic chemicals, such as hydrocarbons ¹⁰.

Risk factors for birth defects

Birth defects can occur during any pregnancy, but some factors increase the risk for birth defects. The following situations place pregnant women at higher risk of having a child with a birth defect ¹¹:

• Lack of folic acid. Women who are pregnant or who could become pregnant should take 400 micrograms of folic acid every day to prevent neural tube defects . However, according to the Centers for Disease Control and Prevention (CDC), only 2 out of every 5 women of childbearing age take folic acid every day ¹².
• Drinking alcohol. Drinking alcohol during pregnancy can lead to a variety of problems, including birth defects. For example, using alcohol can lead to fetal alcohol syndrome, which is characterized by intellectual or developmental disability, physical challenges, and behavioral problems. There is no safe level of alcohol consumption during pregnancy ¹³.
• Smoking cigarettes. Smoking cigarettes during pregnancy can lead to a variety of problems, including lung problems such as asthma. Evidence also strongly suggests that certain birth defects, such as problems with the heart and intestines, are caused by smoking during pregnancy ¹⁴.
• Using drugs. Using drugs during pregnancy can increase the risk of various birth defects, including intellectual or developmental disabilities and behavioral problems, as well as pregnancy loss and stillbirth ¹⁵.
• Medication use. Certain medications are known to cause birth defects if taken during pregnancy. Thalidomide, which is currently used to treat certain cancers and other serious conditions, was once sold as a treatment for morning sickness until it was discovered that it caused severe birth defects. Infants whose mothers took thalidomide had a range of structural and functional problems, including misshapen ears and shortened limbs. Although the thalidomide situation led to much stricter controls on drugs used during pregnancy, the majority of medications currently used by pregnant women have not been tested for safety or efficacy in pregnant women. Women who are pregnant or who might become pregnant should discuss all medications, both prescription and over-the-counter, and supplements they take with their health care providers ¹⁶.
• Infections. Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. Some of the more common infections that are linked to birth defects are cytomegalovirus, a common virus that spreads through body fluids and usually causes no symptoms in healthy people, and toxoplasmosis, a parasitic infection that spreads through contact with cat feces, raw meat, and contaminated food and water. Zika virus infection is linked to microcephaly in newborn babies—a condition in which the brain and skull are smaller than normal.
• Obesity or uncontrolled diabetes. Research found that the risk of newborn heart defects and neural tube defects increased with maternal obesity. Additional research suggest that children of obese parents may be at risk for developmental delays. Obesity is also associated with other health problems and long-term health issues. Poorly controlled blood sugar places women at higher risk of having a baby who is too large, has breathing problems, or has other poor health outcomes. These outcomes are likely regardless of whether the woman had diabetes before she got pregnant (type 1 or 2 diabetes) or whether she developed diabetes during pregnancy (gestational diabetes) ¹⁷.
• Exposure to things in the environment. Pregnant women who breathe in, eat, drink, or get things into their bodies in other ways may also be at increased risk of birth defects. For example, pregnant women who are exposed to high levels of radiation, such as cancer treatments, are at higher risk for birth defects in their infants ¹⁸. Handling or breathing in certain chemicals can also increase the risk of birth defects ¹⁰.

Alcohol birth defects

There is no known safe amount of alcohol use during pregnancy or while trying to get pregnant ¹⁹. There is also no safe time during pregnancy to drink. All types of alcohol are equally harmful, including all wines and beer. When a pregnant woman drinks alcohol, so does her baby ¹⁹. Alcohol can cause problems for the developing baby throughout pregnancy, including before a woman knows she is pregnant. Drinking alcohol in the first three months of pregnancy can cause the baby to have abnormal facial features. Growth and central nervous system problems (e.g., low birthweight, behavioral problems) can occur from drinking alcohol anytime during pregnancy. The baby’s brain is developing throughout pregnancy and can be affected by exposure to alcohol at any time.

Women also should not drink alcohol if they are sexually active and do not use effective contraception (birth control) ¹⁹. This is because a woman might get pregnant and expose her baby to alcohol before she knows she is pregnant. Nearly half of all pregnancies in the United States are unplanned. Most women will not know they are pregnant for up to 4 to 6 weeks.

Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning. Often, a person with an fetal alcohol spectrum disorder has a mix of these problems.

• Fetal alcohol spectrum disorders (FASDs) are completely preventable if a woman does not drink alcohol during pregnancy. Why take the risk?
• To prevent fetal alcohol spectrum disorders (FASDs), a woman should not drink alcohol while she is pregnant, or when she might get pregnant.
• If a woman is drinking alcohol during pregnancy, it is never too late to stop drinking. Because brain growth takes place throughout pregnancy, the sooner a woman stops drinking the safer it will be for her and her baby.

Alcohol in the mother’s blood passes to the baby through the umbilical cord. Drinking alcohol during pregnancy can cause miscarriage, stillbirth, and a range of lifelong physical, behavioral, and intellectual disabilities. These disabilities are known as fetal alcohol spectrum disorders (FASDs). Children with fetal alcohol spectrum disorders might have the following characteristics and behaviors:

• Abnormal facial features, such as a smooth ridge between the nose and upper lip (this ridge is called the philtrum)
• Small head size
• Shorter-than-average height
• Low body weight
• Poor coordination
• Hyperactive behavior
• Difficulty with attention
• Poor memory
• Difficulty in school (especially with math)
• Learning disabilities
• Speech and language delays
• Intellectual disability (mental retardation) or low IQ
• Poor reasoning and judgment skills
• Sleep and sucking problems as a baby
• Vision or hearing problems
• Problems with the heart, kidney, or bones

These conditions can affect each person in different ways, and can range from mild to severe.

Fetal alcohol spectrum disorders (FASDs) last a lifetime. There is no cure for fetal alcohol spectrum disorders, but research shows that early intervention treatment services can improve a child’s development.

There are many types of treatment options, including medication to help with some symptoms, behavior and education therapy, parent training, and other alternative approaches. No one treatment is right for every child. Good treatment plans will include close monitoring, follow-ups, and changes as needed along the way.

Types of fetal alcohol spectrum disorders

Different terms are used to describe fetal alcohol spectrum disorders, depending on the type of symptoms.

• Fetal Alcohol Syndrome: Fetal Alcohol Syndrome represents the most involved end of the fetal alcohol spectrum disorder spectrum. Fetal death is the most extreme outcome from drinking alcohol during pregnancy. People with fetal alcohol syndrome might have abnormal facial features, growth problems, and central nervous system (CNS) problems. People with fetal alcohol syndrome can have problems with learning, memory, attention span, communication, vision, or hearing. They might have a mix of these problems. People with fetal alcohol syndrome often have a hard time in school and trouble getting along with others.

• Alcohol-Related Neurodevelopmental Disorder: People with Alcohol-Related Neurodevelopmental Disorder might have intellectual disabilities and problems with behavior and learning. They might do poorly in school and have difficulties with math, memory, attention, judgment, and poor impulse control.

• Alcohol-Related Birth Defects: People with Alcohol-Related Birth Defects might have problems with the heart, kidneys, or bones or with hearing. They might have a mix of these.

• Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure: Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure was first included as a recognized condition in the Diagnostic and Statistical Manual 5 (DSM 5) of the American Psychiatric Association (APA) in 2013 ²⁰. A child or youth with Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure will have problems in three areas: (1) thinking and memory, where the child may have trouble planning or may forget material he or she has already learned, (2) behavior problems, such as severe tantrums, mood issues (for example, irritability), and difficulty shifting attention from one task to another, and (3) trouble with day-to-day living, which can include problems with bathing, dressing for the weather, and playing with other children. In addition, to be diagnosed with neurobehavioral disorder associated with prenatal alcohol exposure, the mother of the child must have consumed more than minimal levels of alcohol before the child’s birth, which American Psychiatric Association defines as more than 13 alcoholic drinks per month of pregnancy (that is, any 30-day period of pregnancy) or more than 2 alcoholic drinks in one sitting.

Birth defects from smoking

Smoking during pregnancy can cause babies to be born too small or too early (preterm birth), certain birth defects, and stillbirth. Quitting smoking can be hard, but it is one of the best ways a woman can protect herself and her developing baby. Quitting smoking before getting pregnant is best. But for women who are already pregnant, quitting as early as possible can still help protect against some health problems for their developing babies, such as being born too small or too early. It is never too late to quit smoking.

Smoking during pregnancy can cause babies to be born too small or too early. Women who smoke during pregnancy are more likely to have a baby with a birth defect of the mouth and lip called an orofacial cleft.

Babies who breathe in other people’s tobacco smoke are more likely to have ear infections and lung infections, like bronchitis and pneumonia; if they have asthma, breathing in other people’s tobacco smoke can trigger asthma attacks. These babies are also more likely to die from Sudden Infant Death Syndrome (SIDS), a sudden and unexpected infant death that has no immediately obvious cause after investigation.

How does smoking during pregnancy harm my health and my baby?

Most people know that smoking causes cancer, heart disease, and other major health problems. Smoking during pregnancy causes additional health problems, including premature birth (being born too early), certain birth defects, and infant death.

• Smoking makes it harder for a woman to get pregnant.
• Women who smoke during pregnancy are more likely than other women to have a miscarriage.
• Smoking can cause problems with the placenta—the source of the baby’s food and oxygen during pregnancy. For example, the placenta can separate from the womb too early, causing bleeding, which is dangerous to the mother and baby.
• Smoking during pregnancy can cause a baby to be born too early or to have low birth weight—making it more likely the baby will be sick and have to stay in the hospital longer. A few babies may even die.
• Smoking during and after pregnancy is a risk factor of Sudden Infant Death Syndrome (SIDS). SIDS is an infant death for which a cause of the death cannot be found.
• Babies born to women who smoke are more likely to have certain birth defects, like a cleft lip or cleft palate.

What are e-cigarettes? Are they safer than regular cigarettes in pregnancy?

Electronic cigarettes (also called electronic nicotine delivery systems or e-cigarettes) come in different sizes and shapes, including “pens,” “mods,” (i.e., these types are modified by the user) and “tanks.” Most e-cigarettes contain a battery, a heating device, and a cartridge to hold liquid. The liquid typically contains nicotine, flavorings, and other chemicals. The battery-powered device heats the liquid in the cartridge into an aerosol that the user inhales.

Although the aerosol of e-cigarettes generally has fewer harmful substances than cigarette smoke, e-cigarettes and other products containing nicotine are not safe to use during pregnancy. Nicotine is a health danger for pregnant women and developing babies and can damage a developing baby’s brain and lungs. Also, some of the flavorings used in e-cigarettes may be harmful to a developing baby.

What are the benefits of quitting smoking?

Quitting smoking will help you feel better and provide a healthier environment for your baby.

When you stop smoking:

• Your baby will get more oxygen, even after just one day of not smoking.
• There is less risk that your baby will be born too early.
• There is a better chance that your baby will come home from the hospital with you.
• You will be less likely to develop heart disease, stroke, lung cancer, chronic lung disease, and other smoke-related diseases.
• You will be more likely to live to know your grandchildren.
• You will have more energy and breathe more easily.
• Your clothes, hair, and home will smell better.
• Your food will taste better.
• You will have more money that you can spend on other things.
• You will feel good about what you have done for yourself and your baby.

Genetic birth defects

Every cell in the body has chromosomes containing genes that determine a person’s unique characteristics. Genes are one of the basic units of life. Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life.

During conception, a child inherits one of each pair of chromosomes (and one of each pair of the genes they contain) from each parent. An error during this process can cause a baby to be born with too few or too many chromosomes, or with a damaged chromosome.

A genetic disorder is a health condition that comes about because of a problem with a gene or with a chromosome.

A problem with a single gene is known as a gene mutation. You can have a gene mutation without it causing any problems. But some gene mutations can cause problems, for example cystic fibrosis, Huntington’s disease and hemophilia.

If you have a problem with a chromosome, that will probably cause noticeable problems. Some people have a missing chromosome, some have an extra chromosome, some have a broken chromosome. Down syndrome, Turner syndrome and Klinefelter syndrome are all examples of chromosomal disorders.

A disease or defect also can happen when only one parent passes along the gene for that disease. This includes birth defects such as achondroplasia (a form of dwarfism) and Marfan syndrome.

Finally, some boys inherit disorders from genes passed onto them only by their mothers. These defects, which include conditions like hemophilia and color blindness, are called X-linked because the genes are carried on the X chromosome.

Why do genetic disorders occur?

Most genetic disorders occur by chance. Genes and chromosomes are complex, and they often get changed slightly in the formation of new life.

Some disorders are passed down from a parent. If a parent has a damaged gene or chromosome, and that is passed down to a child, the child’s health might be affected.

Still others come about through changes in a person’s DNA during their life. For example, radiation from the sun can damage a person’s DNA in a way that it allows skin cancer to develop.

Are genetic disorders always inherited?

Many genetic disorders are inherited, but many others are not. Some occur simply because a piece of genetic material was damaged as it was being passed from parent to child. In that case, a child can have a genetic disorder that the parent does not have. The damage to the gene is known as a spontaneous mutation.

Do genetic disorders always show up in babies?

No. Some genetic conditions can be seen from birth. Others show up during childhood, adolescence or adult life.

What about testing for genetic disorders?

Some genetic disorders can be tested for. There are many issues to consider before having genetic testing, such as the effect of a test on other family members or whether having a test might affect your working conditions or your chances of getting insurance. You should not have genetic testing without thinking it through carefully.

If you want to discuss testing, it is worth starting with your family doctor or a genetic counsellor. A genetic counselor is an expert in working with families to discuss genetic conditions. They can talk to you about whether testing is available, the benefits and risks of testing, about privacy and confidentiality, about work and insurance, and about talking to members of your family. They generally work with other experts in genetics.

Resources for locating a genetics professional in your community are available online:

• The National Society of Genetic Counselors (https://www.findageneticcounselor.com/) offers a searchable directory of genetic counselors in the United States and Canada. You can search by location, name, area of practice/specialization, and/or ZIP Code.
• The American Board of Genetic Counseling (https://www.abgc.net/about-genetic-counseling/find-a-certified-counselor/) provides a searchable directory of certified genetic counselors worldwide. You can search by practice area, name, organization, or location.
• The Canadian Association of Genetic Counsellors (https://www.cagc-accg.ca/index.php?page=225) has a searchable directory of genetic counselors in Canada. You can search by name, distance from an address, province, or services.
• The American College of Medical Genetics and Genomics (http://www.acmg.net/ACMG/Genetic_Services_Directory_Search.aspx) has a searchable database of medical genetics clinic services in the United States.
• The National Cancer Institute provides a Cancer Genetics Services Directory (https://www.cancer.gov/about-cancer/causes-prevention/genetics/directory), which lists professionals who provide services related to cancer genetics. You can search by type of cancer or syndrome, location, and/or provider name.

If you have a health condition that has not been diagnosed, you may be interested in the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). They have information about how to apply for this multicenter research study.

How to prevent birth defects

Experts know that not all birth defects can be prevented. But, experts also know that women can increase their chances of having a healthy baby by managing health conditions and adopting healthy behaviors before becoming pregnant. Make a pact, a commitment to yourself, to get healthy before and during pregnancy by actively trying to plan ahead, avoid harmful substances, choose a healthy lifestyle, and talk with your healthcare provider.

Plan ahead

Get 400 micrograms (mcg) of folic acid every day

• Folic acid is a vitamin B9. If a woman has enough folic acid in her body at least one month before and during pregnancy, it can help prevent major birth defects of the developing brain and spine (anencephaly and spina bifida). Women can get folic acid from fortified foods or supplements, or a combination of the two, in addition to a varied diet rich in folate.
• Women who are of childbearing age should take at least 400 micrograms (mcg) of a folic acid supplement every day in addition to that found in fortified foods.
• Pregnant women should take add 600 micrograms a day, or 1000 micrograms a day if expecting twins.

Folic acid is available in multivitamins and prenatal vitamins, supplements containing other B-complex vitamins, and supplements containing only folic acid. Common doses range from 400 to 800 mcg in supplements for adults and 200 to 400 mcg in children’s multivitamins ²¹.

About 85% of supplemental folic acid, when taken with food, is bioavailable ²². When consumed without food, nearly 100% of supplemental folic acid is bioavailable.

Table 4 lists the current Recommended Dietary Allowances (RDAs) for folate as mcg of dietary folate equivalents (DFEs). Recommended Dietary Allowance (RDA) is the average daily level of intake sufficient to meet the nutrient requirements of nearly all (97%–98%) healthy individuals; often used to plan nutritionally adequate diets for individuals.

The Food and Nutrition Board of the Institute of Medicine developed dietary folate equivalents (DFEs) to reflect the higher bioavailability of folic acid than that of food folate. At least 85% of folic acid is estimated to be bioavailable when taken with food, whereas only about 50% of folate naturally present in food is bioavailable ²³. Based on these values, the Food and Nutrition Board defined dietary folate equivalent (DFE) as follows:

• 1 mcg DFE = 1 mcg food folate
• 1 mcg DFE = 0.6 mcg folic acid from fortified foods or dietary supplements consumed with foods
• 1 mcg DFE = 0.5 mcg folic acid from dietary supplements taken on an empty stomach

Factors for converting mcg DFE to mcg for supplemental folate in the form of 5-methyl-THF have not been formally established ²⁴.

For infants from birth to 12 months, the Food and Nutrition Board of the Institute of Medicine established an Adequate Intake (intake at this level is assumed to ensure nutritional adequacy; established when evidence is insufficient to develop an Recommended Dietary Allowance [RDA]) for folate that is equivalent to the mean intake of folate in healthy, breastfed infants in the United States (see Table 4).

Infants

• 0 to 6 months: 65 mcg/day*
• 7 to 12 months: 80 mcg/day*

*For infants from birth to 12 months, the Food and Nutrition Board established an Acceptable Intake (AI) for folate that is equivalent to the mean intake of folate in healthy, breastfed infants in the United States.

Children

• 1 to 3 years: 150 mcg/day
• 4 to 8 years: 200 mcg/day
• 9 to 13 years: 300 mcg/day

Adolescents and adults

• Males, age 14 and older: 400 mcg/day
• Females, age 14 and older: 400 mcg/day
• Pregnant females of all ages: 600 mcg/day
• Breastfeeding females of all ages: 500 mcg/day

Table 4: Recommended Dietary Allowances (RDAs) for Folate

Age	Male	Female	Pregnancy	Lactation
Birth to 6 months*	65 mcg DFE*	65 mcg DFE*
7–12 months*	80 mcg DFE*	80 mcg DFE*
1–3 years	150 mcg DFE	150 mcg DFE
4–8 years	200 mcg DFE	200 mcg DFE
9–13 years	300 mcg DFE	300 mcg DFE
14–18 years	400 mcg DFE	400 mcg DFE	600 mcg DFE	500 mcg DFE
19+ years	400 mcg DFE	400 mcg DFE	600 mcg DFE	500 mcg DFE

[Source ²⁵ ]

Food sources of folic acid (vitamin B9)

Table 5: Selected Food Sources of Folate and Folic Acid

Food	Micrograms (mcg) per serving	Percent DV*
Beef liver, braised, 3 ounces	215	54
Spinach, boiled, ½ cup	131	33
Black-eyed peas (cowpeas), boiled, ½ cup	105	26
Breakfast cereals, fortified with 25% of the DV†	100	25
Asparagus, boiled, 4 spears	89	22
Brussels sprouts, frozen, boiled, ½ cup	78	20
Lettuce, romaine, shredded, 1 cup	64	16
Avocado, raw, sliced, ½ cup	59	15
Spinach, raw, 1 cup	58	15
Rice, white, medium-grain, cooked, ½ cup†	54	14
Broccoli, chopped, frozen, cooked, ½ cup	52	13
Mustard greens, chopped, frozen, boiled, ½ cup	52	13
Green peas, frozen, boiled, ½ cup	47	12
Kidney beans, canned, ½ cup	46	12
Spaghetti, cooked, enriched, ½ cup†	45	11
Wheat germ, 2 tablespoons	40	10
Tomato juice, canned, ¾ cup	36	9
Crab, Dungeness, 3 ounces	36	9
Orange juice, ¾ cup	35	9
Bread, white, 1 slice†	32	8
Turnip greens, frozen, boiled, ½ cup	32	8
Peanuts, dry roasted, 1 ounce	27	7
Orange, fresh, 1 small	29	7
Papaya, raw, cubed, ½ cup	27	7
Banana, 1 medium	24	6
Yeast, baker’s, ¼ teaspoon	23	6
Egg, whole, hard-boiled, 1 large	22	6
Cantaloupe, raw, cubed, ½ cup	17	4
Vegetarian baked beans, canned, ½ cup	15	4
Fish, halibut, cooked, 3 ounces	12	3
Milk, 1% fat, 1 cup	12	3
Ground beef, 85% lean, cooked, 3 ounces	7	2
Chicken breast, roasted, 3 ounces	3	1

Footnotes:

* DV = Daily Value. The FDA developed DVs to help consumers compare the nutrient contents of products within the context of a total diet. The Daily Value (DV) for folate used for the values in Table 5 is 400 mcg for adults and children age 4 years and older ²⁶. This Daily Value (DV), however, is changing to 400 mcg DFE as the updated Nutrition and Supplement Facts labels are implemented ²⁴. Manufacturers will use the following conversion factors: 1 mcg DFE = 1 mcg naturally occurring folate = 0.6 mcg folic acid. The updated labels and DVs must appear on food products and dietary supplements beginning in January 2020, but they can be used now ²⁷. The FDA does not require food labels to list folate content unless a food has been fortified with this nutrient. Foods providing 20% or more of the DV are considered to be high sources of a nutrient, but foods providing lower percentages of the DV also contribute to a healthful diet.

† Fortified with folic acid as part of the folate fortification program.

[Source ²⁵ ]

Fortified means that vitamins have been added to the food. Many foods are now fortified with folic acid. Some of these are:

• Enriched breads
• Cereals
• Flours
• Cornmeals
• Pastas
• Rice
• Other grain products

There are also many pregnancy-specific products on the market that have been fortified with folic acid. Some of these are at levels that meet or exceed the RDA for folate. Women should be careful about including a high amount of these products in their diets along with their prenatal multivitamin. Taking more is not needed and does not provide any added benefit.

The tolerable upper intake level for folic acid is 1000 micrograms (mcg) a day. This limit is based on folic acid that comes from supplements and fortified foods. It does not refer to the folate found naturally in foods.

See a healthcare professional regularly

A woman should be sure to see her doctor when planning a pregnancy and start prenatal care as soon as she thinks that she is pregnant. It is important to see the doctor regularly throughout pregnancy, so a woman should keep all her prenatal care appointments. If you are trying to have a baby or are just thinking about it, it is not too early to start getting ready for pregnancy. Use these checklists to help you write down your goals, whether you are planning a pregnancy or trying to get and stay healthy overall.

Figure 1. Steps for healthier pregnancy and baby

[Source (https://www.cdc.gov/preconception/showyourlove/documents/Healthier_Baby_Me_Plan-508.pdf) ]

Avoid harmful substances

Avoid alcohol at any time during pregnancy

Alcohol in a woman’s bloodstream passes to the developing baby through the umbilical cord. There is no known safe amount of alcohol use during pregnancy or while trying to get pregnant. There is also no safe time during pregnancy to drink. All types of alcohol are equally harmful, including wine and beer. Drinking alcohol during pregnancy can cause miscarriage, stillbirth, and a range of lifelong physical, behavioral, and intellectual disabilities. These disabilities in the child, which occur because the mother drank alcohol during the pregnancy, are known as fetal alcohol spectrum disorders. The best advice for women is to stop drinking alcohol when trying to get pregnant.

Avoid smoking cigarettes

The dangers of smoking during pregnancy include preterm birth, certain birth defects (cleft lip or cleft palate), and infant death. Even being around tobacco smoke puts a woman and her pregnancy at risk for problems. Quitting smoking before getting pregnant is best. For a woman who is already pregnant, quitting as early as possible can still help protect against some health problems for the baby, such as low birth weight. It’s never too late to quit smoking.

Avoid marijuana and other drugs

A woman who uses marijuana or other drugs during pregnancy can have a baby who is born preterm, of low birth weight, or has other health problems, such as birth defects. Marijuana is the illicit drug most commonly used during pregnancy. Since we know of no safe level of marijuana use during pregnancy, women who are pregnant, or considering becoming pregnant, should not use marijuana, even in states where marijuana is legal. Women using marijuana for medical reasons should speak with their doctor about an alternative therapy with pregnancy-specific safety data.

Prevent infections

Some infections that a woman can get during pregnancy can be harmful to the developing baby and can even cause birth defects. Check out our 10 tips for preventing infections before and during pregnancy.

10 Tips for Preventing Infections Before and During Pregnancy

Some infections before and during pregnancy can hurt both you and your developing fetus. They can cause serious illness, birth defects, and lifelong disabilities, such as hearing loss or learning problems. Here are 10 tips to help prevent infections before and during pregnancy:

1. Protect yourself from Zika virus
   • Zika virus can be passed from a pregnant woman to her fetus during pregnancy or to her baby around the time of birth. Zika virus infection during pregnancy can cause microcephaly (a birth defect where a baby’s head and brain are smaller than babies of the same age and sex) and other severe brain defects.
     • If you are pregnant, do not travel to areas with Zika (see map here: https://www.cdc.gov/zika/geo/index.html).
       • If you must travel to an area with Zika, talk to your doctor or other healthcare provider first and strictly follow steps to prevent mosquito bites during the trip.
       • If you have a partner who lives in or has traveled to an area with Zika, use condoms from start to finish, every time you have sex (vaginal, anal, or oral) to protect against infection or do not have sex during the pregnancy.
     • If you are trying to become pregnant
       • Talk with your healthcare provider before traveling to areas with Zika and strictly follow steps to prevent mosquito bites during the trip.
       • See CDC’s advice for men and women who are thinking about pregnancy here (https://www.cdc.gov/pregnancy/zika/women-and-their-partners.html).
2. Wash your hands with soap and water after the following:
   • Using the bathroom
   • Touching raw meat, raw eggs, or unwashed vegetables
   • Preparing food and eating
   • Gardening or touching dirt or soil
   • Handling pets
   • Being around people who are sick
   • Getting saliva (spit) on your hands
   • Caring for and playing with children
   • Changing diapers
3. Reduce contact with saliva and urine from babies and young children
   • A common virus called cytomegalovirus (CMV) can cause problems for some babies, including microcephaly and hearing loss. A woman who is infected with cytomegalovirus can pass the virus to her developing baby during pregnancy. Women may be able to lessen their risk of getting cytomegalovirus by reducing contact with saliva and urine from babies and young children. Some ways to do this are by not sharing food and utensils with babies and young children, and washing hands after changing diapers. These actions can’t eliminate your risk of getting cytomegalovirus, but may lessen your chances of getting it.
4. Avoid unpasteurized (raw) milk and foods made from it.
   • Do not eat soft cheeses, such as feta, brie, and queso fresco, unless they have labels that say they are pasteurized. Unpasteurized products can contain harmful bacteria.
5. Do not touch or change dirty cat litter.
   • Have someone else do it. If you must change the cat litter yourself, be sure to wear gloves and wash your hands afterwards. Dirty cat litter might contain a harmful parasite.
6. Stay away from wild or pet rodents and their droppings.
   • Have a pest control professional get rid of pests in or around your home. If you have a pet rodent, like a hamster or guinea pig, have someone else care for it until after your baby arrives. Some rodents might carry a harmful virus.
7. Get tested for sexually transmitted diseases (STDs), such as HIV and hepatitis B, and protect yourself from them.
   • Some people that have HIV, hepatitis B, or an sexually transmitted disease (STD) do not feel sick. Knowing if you have one of these diseases is important. If you do, talk to your healthcare provider about reducing the chance that your baby will become sick. Learn more about sexually transmitted diseases (STDs).
8. Talk to your healthcare provider about vaccinations (shots).
   • Some vaccinations are recommended before you become pregnant, during pregnancy, or right after delivery. Having the right vaccinations at the right time can help keep you healthy and help keep your baby from getting very sick or having life-long health problems.
9. Avoid people who have an infection.
   • If you have not yet had or did not have the vaccine before pregnancy, stay away from people who you know have infections, such as chickenpox or rubella.
10. Ask your doctor about group B strep.
    • About 1 in 4 women carry this type of bacteria, but do not feel sick. An easy swab test near the end of pregnancy will show if you have this type of bacteria. If you do have group B strep, talk to your healthcare provider about how to protect your baby during labor.

These tips can help you prevent infections that could harm you and your developing baby. You will not always know if you have an infection and sometimes you will not feel sick. If you think you might have an infection or think you are at risk, see your healthcare provider. Be sure to talk with your healthcare provider to learn more about safe food preparation, wearing insect repellent when outside, taking medicine, and other important topics.

Choose a healthy lifestyle

Keep diabetes under control

Poor control of diabetes during pregnancy increases the chances for birth defects and other problems for the pregnancy. It can also cause serious complications for the woman. Proper healthcare before and during pregnancy can help prevent birth defects and other poor outcomes.

Strive to reach and maintain a healthy weight

A woman who is obese (a body mass index [BMI] of 30 or higher) before pregnancy is at a higher risk for complications during pregnancy. Obesity also increases a pregnant woman’s risk of several serious birth defects. Even if a woman is not actively planning a pregnancy, getting healthy can help boost her health and her mood. If a woman is overweight or obese, she should talk with her doctor about ways to reach a healthy weight before she gets pregnant.

Talk with your healthcare provider

Talk to a healthcare provider about taking any medications

Experts know that certain medications can cause serious birth defects if they are taken during pregnancy. For many medications taken by pregnant women, the safety has been difficult to determine. Despite the limited safety data, some medications are needed to treat serious conditions. If a woman is pregnant or planning a pregnancy, she should not stop taking medications she needs or begin taking new medications without first talking with her healthcare provider. This includes prescription and over-the-counter medications and dietary or herbal products.

Talk to a healthcare provider about vaccinations (shots)

Even before becoming pregnant, make sure you are up to date on all your vaccines. This will help protect you and your child from serious diseases. For example, rubella is a contagious disease that can be very dangerous if you get it while you are pregnant. In fact, it can cause a miscarriage or serious birth defects. The best protection against rubella is MMR (measles-mumps-rubella) vaccine, but if you aren’t up to date, you’ll need it before you get pregnant. Make sure you have a pre-pregnancy blood test to see if you are immune to the disease. Most women were vaccinated as children with the MMR (measles-mumps-rubella) vaccine, but you should confirm this with your doctor. If you need to get vaccinated for rubella, you should avoid becoming pregnant until one month after receiving the MMR (measles-mumps-rubella) vaccine and, ideally, not until your immunity is confirmed by a blood test.

Most vaccinations are safe during pregnancy and some vaccinations, such as the flu vaccine and the Tdap vaccine (adult tetanus, diphtheria and acellular pertussis vaccine), are specifically recommended during pregnancy. Some vaccines protect women against infections that can cause birth defects. Having the right vaccinations at the right time can help keep a woman and her baby healthy. She should talk to her doctor about which vaccines are recommended for her during pregnancy.

Pregnant women are more prone to severe illness from the flu, including hospitalizations and even death, when compared to women who are not pregnant. Pregnant woman with flu also have an increased risk of serious problems for their pregnancy, including preterm birth. Getting a flu shot is the first and most important step in protecting against flu. The flu shot given during pregnancy has been shown to protect both the mother and her baby (for up to 6 months after delivery) from the flu.

For more information on finding your vaccination records, see CDC’s web page on Vaccination Records (https://www.cdc.gov/vaccines/adults/vaccination-records.html). Even without these records, your healthcare professional can still protect your health and that of your developing baby by recommending the vaccines appropriate for you.

How are birth defects diagnosed?

Many birth defects are diagnosed even before a baby is born through prenatal tests (see prenatal testing above). Prenatal tests also can help determine if a mother has an infection or other condition that is dangerous for the fetus. Knowing about a baby’s health problems ahead of time can help parents and doctors plan for the future.

It’s important to remember that screening identifies only the possibility that a baby has a defect. Some women give birth to a healthy baby after a screening test shows that a defect may be present. If you’re pregnant, talk to your doctor about any tests he or she thinks you should have.

Other birth defects are found during routine newborn screenings. With parents’ permission, babies are tested after birth to screen for certain birth defects that need to be treated. In the U.S., exactly what a baby is tested for varies from state to state, although all states screen for phenylketonuria (PKU), congenital hypothyroidism, sickle cell disease, and about 30 other conditions. Parents should ask health care providers or the hospital nursery which tests their state does.

Parents who have concerns about another specific birth defect might be able to have their baby tested for it. They should talk to their health care provider about it before the baby is born.

What are the treatments for birth defects?

Because the symptoms and problems caused by birth defects vary, treatments for birth defects also vary. Treatments range from medications and therapies to surgeries and assistive devices.

For example:

• Steroid medications, such as prednisone, can help people with muscular dystrophy increase muscle strength, ability, and respiratory function and slow the progression of weakness. Physical therapy is also useful for building strength and reducing weakness.
• Infants with cerebral palsy may receive sensory-motor therapy using Velcro-covered “sticky mittens” to help them “snag” and explore objects they are unable to grasp in the hand ²⁸
• Assistive devices include orthopedic braces to help patients with limb defects to walk and cochlear implants for hearing impairment.
• In the Management of Myelomeningocele Study (MOMS) ²⁹, researchers tested a surgical procedure to correct a severe form of spina bifida while the fetus was still in the womb. Although the surgery itself carried risks, it greatly reduced health complications for the infants who received it, including greater likelihood of being able to walk without assistance.
• Gene therapy approaches, in which a gene that is mutated or missing is replaced by a normal version of the gene, are being tested for a variety of genetic disorders. Some examples of disorders that are being treated successfully with gene therapy include genetic disorders of the immune system, the muscles, and the eyes. Recent research ³⁰ on Duchenne muscular dystrophy used genome editing techniques to improve leg grip strength in a mouse model by “turning on” a gene for a specific protein used in muscles.

Visit clinicaltrials.gov to search for ongoing trials of gene therapies and other treatments for different birth defects and genetic disorders.

If someone in your family has a birth defect, find support and information through these resources, and discuss treatment options with that individual’s health care providers.

References

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