A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.
A birth defect may affect how the body looks, works or both. 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 vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown.
Some birth defects can be fatal. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born.
Centers for Disease Control and Prevention
-
Birth Defects(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1206.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9963.asp
-
Birth Defects
(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/health/topics/birth_defects.cfm
- Birth Defects: Frequently Asked Questions (FAQs)(Centers for Disease Control and Prevention) - http://www.cdc.gov/ncbddd/bd/faq1.htm
- Birth Defects(Nemours Foundation) - http://kidshealth.org/parent/system/ill/birth_defects.html
- Birth Defects(American College of Obstetricians and Gynecologists) - http://www.acog.org/publications/patient_education/bp146.cfm
- Study Links Pesticides to Birth Defects(03/31/2009, HealthDay) - http://www.nlm.nih.gov/medlineplus/news/fullstory_82358.html
-
Amniocentesis(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/159_520.asp
Also available in Spanish http://www.nacersano.org/centro/9246_9641.asp
- Chorionic Villus Sampling (CVS)(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/159_521.asp
- Birth Defects: Before Your Next Pregnancy(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site482/mainpageS482P0.html
- Disorders Screened in State Newborn Screening Programs and Puerto Rico(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/statenbsprogramreport.php
-
Folic Acid Questions and Answers(Centers for Disease Control and Prevention) - http://www.cdc.gov/ncbddd/folicacid/faqs.html
Also available in Spanish http://www.cdc.gov/ncbddd/folicacid/spanish/spfaq.htm
-
Maternal Blood Screening for Birth Defects(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1166.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9931.asp
-
Newborn Screening Tests(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/298_834.asp
Also available in Spanish http://www.nacersano.org/centro/9256_9689.asp
- Prenatal Tests(Nemours Foundation) - http://kidshealth.org/parent/system/medical/prenatal_tests.html
-
Screening for Birth Defects(American College of Obstetricians and Gynecologists) - http://www.acog.org/publications/patient_education/bp165.cfm
Also available in Spanish http://acog.org/publications/patient_education/sp165.cfm
-
When Your Baby Has a Birth Defect(Nemours Foundation) - http://kidshealth.org/parent/system/ill/baby_has_birth_defect.html
Also available in Spanish http://kidshealth.org/parent/en_espanol/embarazo/baby_has_birth_defect_esp.html
-
Agenesis of the Corpus Callosum(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/agenesis/agenesis.htm
- Ambiguous Genitalia(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/ambiguous-genitalia/DS00668/DSECTION=all&METHOD=print
-
Anophthalmia and Microphthalmia(National Eye Institute) - http://www.nei.nih.gov/health/anoph/
- Bardet-Biedl Syndrome(Foundation Fighting Blindness) - http://www.blindness.org/index.php?view=article&catid=38%3Aother-retinal-diseases&id=292%3Abardet-biedl-syndrome&option=com_content&Itemid=88
-
Cephalic Disorders(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/cephalic_disorders/cephalic_disorders.htm
-
Cephalic Disorders(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/los_trastornos_encefalicos.htm
- Cervical Teratoma(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site688/mainpageS688P0.html
-
Chromosomal Abnormalities(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1209.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9964.asp
- Clubfoot(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/clubfoot/DS00814/DSECTION=all&METHOD=print
-
Clubfoot and Other Foot Deformities(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1211.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9976.asp
- Congenital Anomalies of the Esophagus and Trachea(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site2191/mainpageS2191P0.html
- Congenital Diaphragmatic Hernia (CDH)(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site476/mainpageS476P0.html
- Congenital Hand Differences(American Society for Surgery of the Hand) - http://www.assh.org/Public/HandConditions/Pages/CongenitalHandDifferences.aspx
- Congenital Limb Defects(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site1157/mainpageS1157P0.html
- Congenital Muscular Torticollis (Wryneck)(American Academy of Orthopaedic Surgeons) - http://orthoinfo.aaos.org/topic.cfm?topic=A00054
- Congenital Rubella Syndrome(Children's Hospital Boston) - http://www.childrenshospital.org/az/Site605/mainpageS605P0.html
- Conjoined Twins(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/conjoined-twins/DS00869/METHOD=print&DSECTION=all
- Craniofacial Syndrome Descriptions(Children's Craniofacial Association) - http://www.ccakids.com/syn.asp
-
Craniosynostosis(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm
- Crouzon Syndrome (Craniofacial Dysostosis)(Cleft Palate Foundation) - http://www.cleftline.org/publications/crouzon
- Facts on Undescended Testicles(Nemours Foundation) - http://kidshealth.org/parent/pregnancy_newborn/common/crypto.html
- FAQs about CdLS(Cornelia de Lange Syndrome Foundation) - http://www.cdlsusa.org/about_cdls/faq.shtml
-
Genital and Urinary Tract Defects(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1215.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9969.asp
- Hearing Impairment(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1232.asp
- Intestinal Malrotation(Nemours Foundation) - http://kidshealth.org/parent/medical/digestive/malrotation.html
-
Klippel-Feil Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm
-
Late-Appearing Defects(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4139.asp
Also available in Spanish http://www.nacersano.org/centro/9259_9703.asp
- Mayer-Rokitansky-Kuster-Hauser Syndrome(MAGIC Foundation) - http://www.magicfoundation.org/www/docs/107.290/mayer-rokitansky-kuster-hauser-syndrome.html
-
Mobius Syndrome (Congenital Facial Diplegia)(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/mobius/moebius.htm
- Pierre Robin Sequence/Complex(Cleft Palate Foundation) - http://www.cleftline.org/publications/pierre_robin
- Severe Combined Immunodeficiency (Bubble Boy Disease)(Nemours Foundation) - http://kidshealth.org/parent/medical/allergies/severe_immunodeficiency.html
- Treacher Collins Syndrome(Cleft Palate Foundation) - http://www.cleftline.org/publications/treacher_collins
-
Waardenburg Syndrome(National Institute on Deafness and Other Communication Disorders) - http://www.nidcd.nih.gov/health/hearing/waard.asp
-
What I Need to Know about Hirschsprung's Disease
(National Institute of Diabetes and Digestive and Kidney Diseases) - http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/
-
Williams Syndrome(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/williams/williams.htm
-
Accutane and Other Retinoids(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1168.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9938.asp
-
Amniotic Fluid Abnormalities(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_4536.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9929.asp
-
Common Concerns and Exposures(Center for the Evaluation of Risks to Human Reproduction) - http://cerhr.niehs.nih.gov/common/
- FDA Warning: Risks of Buying Accutane (Isotretinoin) over the Internet(Food and Drug Administration) - http://www.fda.gov/buyonline/accutane/
-
Food-Borne Risks in Pregnancy(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1152.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9916.asp
- Organization of Teratology Information Services Fact Sheets(Organization of Teratology Information Services) - http://otispregnancy.org/hm/inside.php?id=41
- What Is a Neonatologist?(American Academy of Pediatrics) - Links to PDF - http://www.aap.org/family/WhatisPedNeonatologist.pdf
- When Your Baby's in the NICU(Nemours Foundation) - http://kidshealth.org/parent/system/ill/nicu_caring.html
- ClinicalTrials.gov: Congenital Abnormalities(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Congenital+Abnormalities%22
-
Common Forms of Inheritance(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4136.asp
Also available in Spanish http://www.nacersano.org/centro/9259_9704.asp
-
Genetics Home Reference: Genetic Conditions(National Library of Medicine) - http://ghr.nlm.nih.gov/BrowseConditions
- Multifactorial Inheritance(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4138.asp
- Birth Defects Research(Centers for Disease Control and Prevention) - http://www.cdc.gov/ncbddd/bd/research.htm
- Obesity in Pregnancy May Up Risk of Some Birth Defects(Nemours Foundation) - http://kidshealth.org/research/obesity_pregnancy.html
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Signaling pathways controlling second heart field development. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19390062&tool=MedlinePlus
- Article: Neurofibromatosis. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19380279&tool=MedlinePlus
- Article: Renal tubular dysgenesis in Israel: pathologist's experience and literature review. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=19344005&tool=MedlinePlus
- Birth Defects -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=congenital+abnormalities[majr:noexp]+OR+abnormalities,+multiple[majr:noexp]+OR+cardiovascular+abnormalities[majr:noexp]+OR+heart+defects,+congenital[majr:noexp]+OR+digestive+system+abnormalities[majr:noexp]+OR+eye+abnormalities[majr:noexp]OR+musculoskeletal+abnormalities[majr:noexp]+OR+nervous+system+malformations[majr:noexp]+OR+respiratory+system+abnormalities[majr:noexp]+OR+skin+abnormalities+OR+stomatognathic+system+abnormalities[majr:noexp]+OR+urogenital+abnormalities[majr:noexp]+NOT+(prenatal+diagnosis[mh]+OR+letter[pt]+OR+editorial[pt]+OR+case+reports[pt])+AND+humans[mh]+AND+english[la]+AND+(review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetk[text]+OR+jsubsetaim[text]+OR+jsubsetn[text]+OR+patient+education+handout[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
-
Talking Glossary of Genetic Terms(National Human Genome Research Institute) - http://www.genome.gov/glossary.cfm
Also available in Spanish http://www.genome.gov/sglossary.cfm
- Find a Teratogen Information Service(Organization of Teratology Information Services) - http://otis.devel.commer.com/hm/inside.php?sid=27&id=19
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- Qualified Centers for Craniofacial Plastic Reconstructive Surgery(Children's Craniofacial Association) - http://www.ccakids.com/prgQC.asp
- State Map Page(National Newborn Screening and Genetics Resource Center) - http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
-
March of Dimes Birth Defects Foundation - http://www.marchofdimes.com/
Also available in Spanish http://www.nacersano.org/
-
National Center on Birth Defects and Developmental Disabilities(Centers for Disease Control and Prevention) - http://www.cdc.gov/ncbddd/
Also available in Spanish http://www.cdc.gov/ncbddd/defaultspan.htm
-
National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
-
National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
- FastStats: Birth Defects(National Center for Health Statistics) - http://www.cdc.gov/nchs/fastats/bdefects.htm
- Cleft Lip and Palate - http://www.nlm.nih.gov/medlineplus/cleftlipandpalate.html
- Congenital Heart Defects - http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html
- Down Syndrome - http://www.nlm.nih.gov/medlineplus/downsyndrome.html
- Facial Injuries and Disorders - http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html
- Fetal Alcohol Syndrome - http://www.nlm.nih.gov/medlineplus/fetalalcoholsyndrome.html
- Genetic Brain Disorders - http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html
- Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
- Head and Brain Malformations - http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html
- Neural Tube Defects - http://www.nlm.nih.gov/medlineplus/neuraltubedefects.html
- Prenatal Testing - http://www.nlm.nih.gov/medlineplus/prenataltesting.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Birth Defects is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/