Well-nigh Birth Defects

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

In that location are 2 main categories of nascency defects: structural birth defects and functional/developmental nascency defects. This information focuses on structural nativity 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 bug.

Researchers have identified thousands of dissimilar birth defects. According to the Centers for Disease Control and Prevention (CDC), birth defects are the leading crusade of death for infants in the The states during the starting time yr of life.3

Citations

Close Citations

  1. World Wellness Organisation. (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 nascency 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 nativity/infant death data gear up. 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 nascence defects?

At that place are ii main categories of nativity defects.

Structural Nascence Defects

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

  • Cleft lip or crack 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 evolution 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 role or body arrangement works or functions. These issues tin include:

  • Nervous system or brain problems.These include intellectual and developmental disabilities, behavioral disorders, speech communication or language difficulties, seizures, and movement problem. 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 torso's power to rid itself of waste material materials or harmful chemicals. Two common metabolic disorders are phenylketonuria and hypothyroidism.
  • Degenerative disorders. These are weather that might not be obvious at birth but cause 1 or more than 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 arrangement and the adrenal glands and was the discipline of the movie "Lorenzo's Oil."

Some birth defects affect many parts or processes in the torso, 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 nascence defects occur in about 1 in every 33 infants born in the United States each year.1

Nascence defects can occur during whatsoever pregnancy, merely some factors increase the gamble for birth defects. The following situations place pregnant women at higher risk of having a kid with a birth defect:2

  • Lack of folic acid. Women who are pregnant or who could get pregnant should take 400 micrograms of folic acid every 24-hour interval to prevent neural tube defects (NTDs). Notwithstanding, according to the Centers for Disease Command and Prevention (CDC), only two out of every 5 women of childbearing age take folic acrid every 24-hour interval.iii
  • Drinking alcohol.Drinking booze 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 condom 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. Show besides strongly suggests that sure nascence 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 nascence defects, including IDDs and behavioral issues, as well as pregnancy loss and stillbirth.6
  • Medication use. Certain medications are known to cause nascency defects if taken during pregnancy. Thalidomide, which is currently used to treat certain cancers and other serious atmospheric condition, was once sold equally a treatment for morning sickness until it was discovered that it acquired severe nativity 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 accept not been tested for safety or efficacy in significant women. Addressing this issue is the primary focus of NICHD's Obstetric-Fetal Pharmacology Inquiry Units Network. Women who are meaning or who might become pregnant should discuss all medications, both prescription and over-the-counter, and supplements they take with their wellness care providers.7
  • Infections. Women who get certain infections during pregnancy are at higher risk for having a child with nascence defects. Some of the more common infections that are linked to birth defects are cytomegalovirus, a common virus that spreads through trunk fluids and commonly causes no symptoms in healthy people, and toxoplasmosis, a parasitic infection that spreads through contact with cat carrion, 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 nativity defects and other bug 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 plant that the run a risk of newborn middle defects and neural tube defects increased with maternal obesity. Additional NICHD enquiry suggest that children of obese parents may be at risk for developmental delays. Obesity is also associated with other health issues and long-term health issues. Poorly controlled claret carbohydrate places women at higher risk of having a babe who is as well big, has animate bug, or has other poor health outcomes. These outcomes are likely regardless of whether the woman had diabetes before she got meaning (type i or 2 diabetes) or whether she developed diabetes during pregnancy (gestational diabetes).eight
  • Exposure to things in the environment. Significant women who exhale in, consume, potable, or get things into their bodies in other ways may also be at increased take chances of birth defects. For example, pregnant women who are exposed to high levels of radiation, such equally cancer treatments, are at college risk for birth defects in their infants.9 Handling or animate in certain chemicals tin too increase the adventure of nativity defects.ten

Citations

Shut Citations

  1. Centers for Disease Control and Prevention. (2008). Update on overall prevalence of major nascency defects—Atlanta, Georgia, 1978–2005. MMWR Weekly Written report, 57(ane), ane–5. Retrieved February 7, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5701a2.htm
  2. Centers for Disease Command and Prevention. (2017). Make a PACT for prevention. Commit to good for you choices to help prevent birth defects. Retrieved February seven, 2017, from http://world wide web.cdc.gov/ncbddd/birthdefects/prevention.html
  3. Centers for Illness Control and Prevention. (2008). Apply of supplements containing folic acid amongst women of childbearing age—United states of america, 2007. MMWR Weekly Report, 57(1), 5–8. Retrieved February seven, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5701a3.htm
  4. Tan, C. H., Denny, C. H., Cheal, Due north. E., Sniezek, J. E., Kanny, D. Alcohol use and binge drinking amongst women of childbearing historic period—U.s., 2011–2013. (2015). MMWR Weekly Report, 64(37), 1042–1046. Retrieved Feb 7, 2017, from https://world wide web.cdc.gov/mmwr/preview/mmwrhtml/mm6437a3.htm
  5. Centers for Disease Control and Prevention. (n.d.). Smoking and pregnancy. Retrieved February vii, 2017, from http://www.cdc.gov/features/pregnantdontsmoke/pregnantdontsmoke.pdf (PDF 249 KB)
  6. American College of Obstetricians and Gynecologists. (2013). FAQ: Tobacco, booze, drugs, and pregnancy. Retrieved July 26, 2017, from https://www.acog.org/~/media/For%20Patients/faq170.pdf (PDF 75.iii KB)
  7. Centers for Disease Control and Prevention. (2016). Medication and pregnancy. Retrieved Feb 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.seven MB)
  9. Williams, P. M., & Fletcher, S. (2010). Wellness effects of prenatal radiations exposure. American Family Physician, 82(five), 488–493. Retrieved April 21, 2017, from http://www.aafp.org/afp/2010/0901/p488.html external link
  10. American College of Obstetricians and Gynecologists. (2013; reaffirmed 2016). Committee Stance 575: Exposure to toxic ecology agents. Retrieved July 26, 2017, from https://world wide web.acog.org/Resources-And-Publications/Commission-Opinions/Committee-on-Health-Intendance-for-Underserved-Women/Exposure-to-Toxic-Environmental-Agents external link

What causes nascence defects?

Unlike birth defects accept dissimilar causes, and the causes of many nascency defects remain unknown.

A specific condition might be caused by ane or more than of the post-obit primary problems:1

  • Genetic problems. One or more genes might have a modify or mutation that results in them not working properly, such as in Frail 10 syndrome. Similarly, a gene or part of the cistron might exist missing.
  • Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing, such every bit in Turner syndrome, when a female is missing an Ten chromosome. Other nativity defects result from having an actress chromosome, such equally in Klinefelter syndrome and Down syndrome.
  • Infections. Women who get sure infections during pregnancy are at higher adventure for having a child with birth defects. For example, infection with Zika virus during pregnancy is linked with the nascency 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 likewise. Our 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.
  • Exposure to medications, chemicals, or other agents during pregnancy. The infants whose mothers took thalidomide are examples of an exposure leading to nascence defects. Other examples include exposure to rubella (too chosen High german measles) and toxic chemicals, such equally hydrocarbons.2

Citations

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How do health intendance providers diagnose birth defects?

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

Many structural issues, such as club foot or cleft palate, are detected and diagnosed after a physical exam of the infant immediately after birth. For other weather, newborn screening or prenatal testing is the but style to detect and diagnose problems.

This information focuses on structural nascence 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 status-specific topics.

Newborn Screening

Newborn screening, a process that tests infants' claret for different health conditions, including many birth defects, provides 1 method of detecting issues. Newborn screening does not diagnose whatsoever specific conditions but detects that a trouble may exist. By detecting issues immediately afterwards birth, conditions can be diagnosed and treated earlier they have lifelong effects.

In addition, newborn screening routinely includes test for hearing issues, as well as pulse oximetry (test of baby's pulse charge per unit and blood oxygen levels) to detect critical built middle defects.i

Infants who are at loftier risk for certain conditions—for instance, considering of their family unit history—can undergo boosted testing at birth to notice 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 brainstorm 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 besides measure out the levels of certain substances in a woman's blood that determine the risk of the fetus for sure chromosomal disorders and neural tube defects. Ultrasound screenings, creating a picture using sound, let providers to view the developing fetus in the womb. Some birth defects, such as spina bifida, are detectable on ultrasounds.

Health intendance providers recommend that sure 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 nascence defects.

Noninvasive prenatal testing (NIPT)ii,3

NIPT is non a routine prenatal test only is used when a routine test suggests that the fetus may have a chromosomal disorder, such as having an actress or missing chromosome in each prison cell, which occurs in disorders such as Down syndrome, Patau syndrome, and Edwards syndrome.

NIPT analyzes the placental DNA present in the female parent's claret; it does not require cell samples from within the womb.

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

Amniocentesis5

Amniocentesis (pronouncedam-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 doc takes a small amount of fluid from the womb using a long needle. The fluid, chosen amniotic (pronouncedam-nee-OT-ik) fluid, contains cells that have genetic cloth that is the same as the fetus's genetic fabric. A laboratory grows the cells and so examines their genetic material for any problems. Some nativity defects that tin can be detected with amniocentesis are Down syndrome and certain types of muscular dystrophy.

There is a slight adventure of pregnancy loss with amniocentesis, so women should talk over the procedure with their health care provider before making a determination nearly the test.

Chorionic Villus Sampling (CVS)6,7

This test extracts cells from inside the womb to make up one's mind whether the fetus has a genetic disorder. Using a long needle, the doctor takes cells from the chorionic villi (pronouncedKOHR-ee-on-ik VILL-i), which are tissues in the placenta, the organ in the womb that nourishes the fetus. The genetic textile 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 washed earlier in pregnancy than amniocentesis, just it is likewise associated with a slightly college risk of miscarriage than amniocentesis. Women who are because CVS should discuss the test and the risks with her wellness care provider.

Links to more information about prenatal testing are bachelor in the Resource section of this topic.

Citations

Close 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. East. (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, M., Best, R. Grand., 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, eighteen, 1056–1065. Retrieved February 7, 2017, from https://world wide web.acmg.net/docs/NIPS_AOP.pdf
  4. Guild for Maternal-Fetal Medicine. (2014). SMFM statement: Maternal serum cell-free Deoxyribonucleic acid screening in depression risk women. Retrieved April 21, 2017, from https://www.smfm.org/publications/157-smfm-statement-maternal-serum-prison cell-gratuitous-deoxyribonucleic acid-screening-in-low-run a 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, 50. (2007). Prenatal genetic diagnosis. In S. G. Gabbe, J. R. Niebyl, & J. L. Simpson (Eds.),Obstetrics: Normal and problem pregnancies (fifth ed.). New York, NY: Churchill Livingstone.
  7. American Higher of Obstetricians and Gynecologists. (2016). Practice bulletin no. 162: Prenatal diagnostic testing for genetic disordersObstetrics & Gynecology, 127(5), e108–e122.

What are the treatments for nativity defects?

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

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

For instance:

  • Steroid medications, such as prednisone, can assist people with muscular dystrophy increase muscle strength, ability, and respiratory role and slow the progression of weakness. Physical therapy is also useful for building forcefulness and reducing weakness.
  • Infants with cerebral palsy may receive sensory-motor therapy using Velcro-covered "gluey 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 damage.
  • In the Management of Myelomeningocele Study (MOMS), conducted through NICHD's Maternal-Fetal Surgery Network, researchers tested a surgical process to correct a astringent 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 existence 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 cistron, are existence tested for a variety of genetic disorders. Some examples of disorders that are being treated successfully with cistron therapy include genetic disorders of the immune arrangement, the muscles, and the eyes. Recent NICHD-supported enquiry on Duchenne muscular dystrophy used genome editing techniques to improve leg grip strength in a mouse model by "turning on" a factor for a specific protein used in muscles.2

Visit https://clinicaltrials.gov to search for ongoing trials of gene therapies and other treatments for dissimilar nativity defects and genetic disorders.

If someone in your family has a birth defect, find back up and information through these resources, and discuss handling options with that individual's health care providers.

Citations

Shut Citations

  1. Chorna, O., Heathcock, J., Cardinal, A., Noritz, Grand., Carey, H., Hamm, E., et al. (2015). Early childhood constraint therapy for sensory/motor damage 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. Scientific discipline, 351(6271), 400–403. Retrieved March 22, 2017, from http://science.sciencemag.org/content/351/6271/400.long

NICHD Nativity Defects Enquiry Goals

NICHD'south history is rooted in its aim to understand, to prevent, and to improve a range of birth defects, including neural tube defects, spina bifida, and Downwards syndrome.

Institute research has fabricated disquisitional discoveries most various nascence 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 cracking deal of information exists on the biological, neurocognitive, and behavioral processes that crusade various birth defects, it is still unclear for many of these disorders how the diverse factors collaborate to produce pathology. Inquiry interests in this surface 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 ecology and other influences on the etiology and severity of disorders within families and across populations.
  • Basic mechanisms of typical and singular development. Through basic inquiry, NICHD-funded scientists have identified many factors that regulate genetic networks triggering and controlling developmental processes and contributing to birth defects. Through the employ 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 nativity defects, such equally Prader-Willi syndrome. Investigations focus on the epigenetic changes associated with developmental milestones with the goal of understanding typical and atypical developmental states.
  • Lifetime evolution of individuals with nascency defects. There is a meaning knowledge gap virtually how children with birth defects fare socially, cognitively, vocationally, and adaptively during adulthood. NICHD-funded research seeks to make full these gaps and to improve understanding of the developmental needs of individuals of all ages who are living with nascency defects. Such research is particularly important for predicting developmental course and risk/protective factors likewise as for developing effective, developmentally sensitive interventions across the lifespan.
  • Detection and therapeutics. NICHD-funded researchers aim to develop new technologies to discover birth defects and atypical developmental processes. At the same time, efforts to identify new therapeutics to treat the symptoms and underlying causes of nativity defects, including pharmacological, educational, and psychological interventions, and to sympathize the efficacy of existing therapeutics are also ongoing. Researchers also examine why some interventions are constructive for ane individual and non for another. Measures of efficacy relevant to independent and adaptive functioning are of particular interest.

Nascence Defects Enquiry Activities and Advances

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

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