Birth Defects

Birth defects are structural (how the body is built) or functional (how the body works) abnormalities present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. This information focuses on structural birth defects, such as heart, limb, or brain malformations, their causes, their prevention, and their treatments. Functional/developmental birth defects are addressed more completely in the Intellectual and Developmental Disabilities (IDD) information.

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.

Understanding human development across the lifespan, including birth defects and related or resulting disabilities, was a primary reason NICHD was established. The Institute is a leader in research on birth defects, their causes, their prevention and treatments, and their long-term health outcomes.

NICHD is aware that the term "birth defects" carries negative undertones and that the term does not reflect the many abilities and talents of those affected by these problems. Communities are discussing alternative terms for describing these birth problems. Until a consensus is reached, this website uses the term "birth defects" to describe these health issues.

About Birth Defects

Birth defects are structural or functional abnormalities present at birth that can cause physical disability, intellectual and developmental disability (IDD), and other health problems.1,2 Some may be fatal, especially if not detected and treated early.

There are two main categories of birth defects: structural birth defects and functional/developmental birth defects. This information focuses on structural birth defects, their causes, their prevention, and their treatment. Functional/developmental birth defects are addressed more completely in the IDDs content.

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

Researchers have identified thousands of different birth defects. According to the Centers for Disease Control and Prevention (CDC), birth defects are the leading cause of death for infants in the United States during the first year of life.3

Citations

  1. World Health Organization. (2016). Congenital anomalies. Retrieved July 26, 2017, from http://www.who.int/mediacentre/factsheets/fs370/en/
  2. Centers for Disease Control and Prevention. (2015). Facts about birth defects. Retrieved July 26, 2017, from https://www.cdc.gov/ncbddd/birthdefects/facts.html
  3. Mathews, T. J., MacDorman, M. F., & Thoma, M. E. (2015). Infant mortality statistics from the 2013 period: Linked birth/infant death data set. National Vital Statistics Reports, 64(9), 1–30. Retrieved July 26, 2017, from https://www.cdc.gov/nchs/data/nvsr/nvsr64/nvsr64_09.pdf (PDF 993 KB)

What are the 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 syndromePrader-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.

This information focuses on structural birth defects, their causes, their prevention, and their treatment. Functional/developmental birth defects are addressed more completely in the intellectual and developmental disabilities content.

How many people are affected by/at risk for birth defects?

CDC estimates that birth defects occur in about 1 in every 33 infants born in the United States each year.1

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:2

  • 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 (NTDs). 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.3
  • 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 (IDD), physical challenges, and behavioral problems. There is no safe level of alcohol consumption during pregnancy.4
  • 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.5
  • Using drugs. Using drugs during pregnancy can increase the risk of various birth defects, including IDDs and behavioral problems, as well as pregnancy loss and stillbirth.6
  • 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. Addressing this issue is the primary focus of NICHD's Obstetric-Fetal Pharmacology Research Units Network. 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.7
  • 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. The Pregnancy topic has more information on infections that can cause birth defects and other problems in newborns and on ways to prevent them during pregnancy, and CDC provides tips for preventing infections before and during pregnancy.
  • Obesity or uncontrolled diabetes. NICHD research found that the risk of newborn heart defects and neural tube defects increased with maternal obesity. Additional NICHD 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).8
  • 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.9 Handling or breathing in certain chemicals can also increase the risk of birth defects.10

Citations

  1. Centers for Disease Control and Prevention. (2008). Update on overall prevalence of major birth defects—Atlanta, Georgia, 1978–2005. MMWR Weekly Report, 57(1), 1–5. Retrieved February 7, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5701a2.htm
  2. Centers for Disease Control and Prevention. (2017). Make a PACT for prevention. Commit to healthy choices to help prevent birth defects. Retrieved February 7, 2017, from http://www.cdc.gov/ncbddd/birthdefects/prevention.html
  3. Centers for Disease Control and Prevention. (2008). Use of supplements containing folic acid among women of childbearing age—United States, 2007. MMWR Weekly Report, 57(1), 5–8. Retrieved February 7, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5701a3.htm 
  4. Tan, C. H., Denny, C. H., Cheal, N. E., Sniezek, J. E., Kanny, D. Alcohol use and binge drinking among women of childbearing age—United States, 2011–2013. (2015). MMWR Weekly Report, 64(37), 1042–1046. Retrieved February 7, 2017, from https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6437a3.htm
  5. Centers for Disease Control and Prevention. (n.d.). Smoking and pregnancy. Retrieved February 7, 2017, from http://www.cdc.gov/features/pregnantdontsmoke/pregnantdontsmoke.pdf (PDF 249 KB)
  6. American College of Obstetricians and Gynecologists. (2013). FAQ: Tobacco, alcohol, drugs, and pregnancy. Retrieved July 26, 2017, from https://www.acog.org/~/media/For%20Patients/faq170.pdf (PDF 75.3 KB)
  7. Centers for Disease Control and Prevention. (2016). Medication and pregnancy. Retrieved February 7, 2017, from https://www.cdc.gov/pregnancy/meds/index.html
  8. Centers for Disease Control and Prevention. (2011). 2011 National diabetes fact sheet. Retrieved February 7, 2017, from https://www.cdc.gov/diabetes/pubs/pdf/ndfs_2011.pdf (PDF 2.7 MB)
  9. Williams, P. M., & Fletcher, S. (2010). Health effects of prenatal radiation exposure. American Family Physician, 82(5), 488–493. Retrieved April 21, 2017, from http://www.aafp.org/afp/2010/0901/p488.html
  10. American College of Obstetricians and Gynecologists. (2013; reaffirmed 2016). Committee Opinion 575: Exposure to toxic environmental agents. Retrieved July 26, 2017, from https://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Health-Care-for-Underserved-Women/Exposure-to-Toxic-Environmental-Agents

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:1

Citations

  1. American Academy of Pediatrics. (2015). Congenital abnormalities. Retrieved April 21, 2017, from https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Congenital-Abnormalities.aspx
  2. American College of Obstetricians and Gynecologists. (2013; reaffirmed 2016). Committee Opinion 575: Exposure to toxic environmental agents. Retrieved July 26, 2017, from https://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Health-Care-for-Underserved-Women/Exposure-to-Toxic-Environmental-Agents

How do health care providers diagnose birth defects?

Diagnosis of birth defects depends on the specific problem and parts or systems of the body that are affected.

Many structural problems, such as club foot or cleft palate, are detected and diagnosed after a physical examination of the baby immediately after birth. For other conditions, newborn screening or prenatal testing is the only way to detect and diagnose problems.

This information focuses on structural birth defects, their causes, their prevention, and their treatments. Functional/developmental birth defects are addressed more completely in the intellectual and developmental disabilities content and in condition-specific topics.

Newborn Screening

Newborn screening, a process that tests infants' blood for different health conditions, including many birth defects, provides one method of detecting problems. Newborn screening does not diagnose any specific conditions but detects that a problem may exist. By detecting problems immediately after birth, conditions can be diagnosed and treated before they have lifelong effects.

In addition, newborn screening routinely includes test for hearing problems, as well as pulse oximetry (test of baby's pulse rate and blood oxygen levels) to detect critical congenital heart defects.1

Infants who are at high risk for certain conditions—for example, because of their family history—can undergo additional testing at birth to detect these conditions and treat them if needed. This type of screening has been effective in detecting some cases of Menkes disease, allowing for treatment to begin before health problems occur.

Prenatal Screening

During pregnancy, women have routine tests, such as blood and urine tests, to check for diabetes, signs of infection, or disorders of pregnancy such as preeclampsia. Blood tests also measure the levels of certain substances in a woman's blood that determine the risk of the fetus for certain chromosomal disorders and neural tube defects. Ultrasound screenings, creating a picture using sound, allow providers to view the developing fetus in the womb. Some birth defects, such as spina bifida, are detectable on ultrasounds.

Health care providers recommend that certain pregnant women, including those who are older than 35 years of age and those with a family history of certain conditions, get additional prenatal tests to screen for birth defects. Prenatal detection allows doctors to start treatment as early as possible for some birth defects.

Noninvasive prenatal testing (NIPT)2,3

NIPT is not a routine prenatal test but is used when a routine test suggests that the fetus may have a chromosomal disorder, such as having an extra or missing chromosome in each cell, which occurs in disorders such as Down syndrome, Patau syndrome, and Edwards syndrome.

NIPT analyzes the placental DNA present in the mother's blood; it does not require cell samples from inside the womb.

Currently, experts recommend NIPT only for high-risk pregnancies.4 This method does not detect open neural tube defects, nor does it predict late pregnancy complications.

Amniocentesis5

Amniocentesis (pronounced am-nee-oh-sen-TEE-sis) is a test that is usually performed to determine whether a fetus has a genetic disorder. In this test, a doctor takes a small amount of fluid from the womb using a long needle. The fluid, called amniotic (pronounced am-nee-OT-ik) fluid, contains cells that have genetic material that is the same as the fetus's genetic material. A laboratory grows the cells and then examines their genetic material for any problems. Some birth defects that can be detected with amniocentesis are Down syndrome and certain types of muscular dystrophy.

There is a slight risk of pregnancy loss with amniocentesis, so women should discuss the procedure with their health care provider before making a decision about the test.

Chorionic Villus Sampling (CVS)6,7

This test extracts cells from inside the womb to determine whether the fetus has a genetic disorder. Using a long needle, the doctor takes cells from the chorionic villi (pronounced KOHR-ee-on-ik VILL-i), which are tissues in the placenta, the organ in the womb that nourishes the fetus. The genetic material in the chorionic villus cells is identical to that of the fetal cells.

Like amniocentesis, CVS can be used to test for chromosomal disorders and other genetic problems. CVS can be done earlier in pregnancy than amniocentesis, but it is also associated with a slightly higher risk of miscarriage than amniocentesis. Women who are considering CVS should discuss the test and the risks with her health care provider.

Links to more information about prenatal testing are available in the Resources section of this topic.

Citations

  1. Centers for Disease Control and Prevention. (2012). Pulse oximetry screening for critical congenital heart defects. Retrieved July 26, 2017, from https://www.cdc.gov/features/congenitalheartdefects/
  2. Thompson, A. E. (2015). Noninvasive prenatal testing. JAMA, 314(2), 198. Retrieved February 7, 2017, from Mhttp://jamanetwork.com/journals/jama/fullarticle/2396480
  3. Gregg, A. R., Skotko, B. G., Benkendorf, J. L., Monaghan, K. G., Bajaj, K., Best, R. G., et al. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 18, 1056–1065. Retrieved February 7, 2017, from https://www.acmg.net/docs/NIPS_AOP.pdf
  4. Society for Maternal-Fetal Medicine. (2014). SMFM statement: Maternal serum cell-free DNA screening in low risk women. Retrieved April 21, 2017, from https://www.smfm.org/publications/157-smfm-statement-maternal-serum-cell-free-dna-screening-in-low-risk-women
  5. National Library of Medicine. (2015). Amniocentesis. Retrieved on February 7, 2017, from https://medlineplus.gov/ency/article/003921.htm
  6. Simpson, J. L., & Otano, L. (2007). Prenatal genetic diagnosis. In S. G. Gabbe, J. R. Niebyl, & J. L. Simpson (Eds.), Obstetrics: Normal and problem pregnancies (5th ed.). New York, NY: Churchill Livingstone.
  7. American College of Obstetricians and Gynecologists. (2016). Practice bulletin no. 162: Prenatal diagnostic testing for genetic disorders Obstetrics & Gynecology, 127(5), e108–e122.

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.

This information focuses on structural birth defects, their causes, their prevention, and their treatments. Functional/developmental birth defects are addressed more completely in the intellectual and developmental disabilities content and in the condition-specific topics.

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.1
  • 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), conducted through NICHD’s Maternal-Fetal Surgery Network, 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. Visit http://nichd.nih.gov/news/resources/spotlight/pages/021011-spina-bifida-MOMS.aspx for more information.
  • 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 NICHD-supported research 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.2

Visit https://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.

Citations

  1. Chorna, O., Heathcock, J., Key, A., Noritz, G., Carey, H., Hamm, E., et al. (2015). Early childhood constraint therapy for sensory/motor impairment in cerebral palsy: A randomised clinical trial protocol. BMJ Open, 5(12), e010212. Retrieved April 21, 2017, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4679990/
  2. Long, C., Amoasii, L., Mireault, A. A., McAnally, J. R., Li, H., Sanchez-Ortiz, E., et al. (2016). Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy. Science, 351(6271), 400–403. Retrieved March 22, 2017, from http://science.sciencemag.org/content/351/6271/400.long

NICHD Birth Defects Research Goals

NICHD’s history is rooted in its aim to understand, to prevent, and to ameliorate a range of birth defects, including neural tube defects, spina bifida, and Down syndrome.

Institute research has made critical discoveries about various birth defects, including their causes, detection, prevention, and management. Research in the institute’s portfolio addresses some of the following topics:

  • Characterization of birth defects. Although a great deal of information exists on the biological, neurocognitive, and behavioral processes that cause various birth defects, it is still unclear for many of these disorders how the various factors interact to produce pathology. Research interests in this area range from full-spectrum phenotypic delineation throughout the lifespan to genotypic characterization of disorders in affected individuals and throughout a population. Researchers are also mapping the environmental and other influences on the etiology and severity of disorders within families and across populations.
  • Basic mechanisms of typical and atypical development. Through basic research, NICHD-funded scientists have identified many factors that regulate genetic networks triggering and controlling developmental processes and contributing to birth defects. Through the use of model systems, NICHD research is identifying the myriad factors regulating the genetic networks that control these processes. Research includes studies of early embryonic events, organogenesis, and developmental neurobiology.
  • Epigenetic regulation of typical and atypical development. Epigenetic regulatory mechanisms influence developmental processes, including those that underlie some birth defects, such as Prader-Willi syndrome. Investigations focus on the epigenetic changes associated with developmental milestones with the goal of understanding typical and atypical developmental states.
  • Lifetime development of individuals with birth defects. There is a significant knowledge gap about how children with birth defects fare socially, cognitively, vocationally, and adaptively during adulthood. NICHD-funded research seeks to fill these gaps and to improve understanding of the developmental needs of individuals of all ages who are living with birth defects. Such research is particularly important for predicting developmental course and risk/protective factors as well as for developing effective, developmentally sensitive interventions across the lifespan.
  • Detection and therapeutics. NICHD-funded researchers aim to develop new technologies to detect birth defects and atypical developmental processes. At the same time, efforts to identify new therapeutics to treat the symptoms and underlying causes of birth defects, including pharmacological, educational, and psychological interventions, and to understand the efficacy of existing therapeutics are also ongoing. Researchers also examine why some interventions are effective for one individual and not for another. Measures of efficacy relevant to independent and adaptive functioning are of particular interest.

Birth Defects Research Activities and Advances

Through its intramural and extramural organizational units, NICHD conducts and supports a variety of research on birth defects.

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