Birth defects account for 17.1 percent of infant deaths in the United States and rank as the second leading cause. One linkage study found them present in 19.3 percent of childhood cancer diagnoses. Similar associations appear with autism and with risks that drop when folic acid is used.
Key Takeaways
- 19.3% of all childhood cancer diagnoses in the Cancer Linkage project were in children with a birth defect, meaning birth defects are associated with higher childhood cancer risk
- 3.6% of children with autism were reported to have a birth defect compared with 2.5% without autism (Utah Birth Defects Network), meaning birth defects were more common among children with autism in that cohort
- 6.5% of infants born in the United States with congenital heart disease were diagnosed with complex congenital heart disease in a population study meaning severe forms constitute a measurable share
- Early detection and intervention for congenital heart disease starts in the prenatal period and continued postnatal evaluation; in a large cohort prenatal diagnosis occurred in 52% of major congenital heart disease cases, meaning over half were identified before birth in that dataset
- 1.6% of pregnancies result in anencephaly or spina bifida when folic acid is not used versus 0.8% when used in a cited prevention estimate, meaning risk halves with folic acid
- 4.4% of infants with birth defects have a documented chromosomal abnormality, meaning genetic etiologies account for a measurable portion in clinical cohorts
- Prenatal exposure to valproic acid was associated with a 10.7-fold increased risk of spina bifida in a large cohort study, meaning medication exposures can drive defect prevalence
- Carbamazepine exposure during pregnancy increased risk of spina bifida with an estimated OR of 1.6 in a population-based study, meaning specific antiepileptic drugs raise risk
- Maternal obesity was associated with increased risk of neural tube defects with aOR 2.0 in a meta-analysis, meaning weight is a modifiable risk factor
- $5.7 billion annual direct medical costs for congenital heart disease in the US, meaning cardiovascular birth defects require large healthcare resources
- Congenital anomalies contributed 2.2% of total global disability-adjusted life years (DALYs) (2016), meaning they are a significant global burden
- 3.3 million disability-adjusted life years (DALYs) from birth defects in a global estimate for 2016 (congenital anomalies), meaning birth defects drive disability globally
- The global teratology services market (pregnancy and exposure counseling for birth defect risk) was forecast to grow at a CAGR of 7–10% through 2030 in a market report, meaning specialist counseling services are expanding
- The EU market for medical genetics testing reached €4.1 billion in 2022 per industry estimates, reflecting spending on genetic evaluations relevant to birth defects
- The US medical genetics testing market was estimated at $2.9 billion in 2021, indicating strong commercial demand for genetic testing of congenital anomalies
Birth defects account for 17.1% of infant deaths in 2020 and are linked to higher childhood cancer risk.
Related reading
01 · Category
Epidemiology4 stats
01
19.3% of all childhood cancer diagnoses in the Cancer Linkage project were in children with a birth defect, meaning birth defects are associated with higher childhood cancer risk[1]
02
3.6% of children with autism were reported to have a birth defect compared with 2.5% without autism (Utah Birth Defects Network), meaning birth defects were more common among children with autism in that cohort[1]
03
6.5% of infants born in the United States with congenital heart disease were diagnosed with complex congenital heart disease in a population study meaning severe forms constitute a measurable share[2]
04
17.1% of infant deaths in the United States were due to birth defects in 2020 (ranking as the #2 cause of infant death), meaning birth defects significantly contribute to infant mortality[3]
Interpretation
Epidemiology Interpretation
Epidemiology shows that birth defects are relatively common and clinically important, appearing in 19.3% of childhood cancer diagnoses and contributing to 17.1% of infant deaths in 2020 while also being higher among children with autism than those without.
02 · Category
Screening & Outcomes8 stats
01
Early detection and intervention for congenital heart disease starts in the prenatal period and continued postnatal evaluation; in a large cohort prenatal diagnosis occurred in 52% of major congenital heart disease cases, meaning over half were identified before birth in that dataset[4]
02
1.6% of pregnancies result in anencephaly or spina bifida when folic acid is not used versus 0.8% when used in a cited prevention estimate, meaning risk halves with folic acid[1]
03
4.4% of infants with birth defects have a documented chromosomal abnormality, meaning genetic etiologies account for a measurable portion in clinical cohorts[5]
04
Preeclampsia was associated with a higher risk of birth defects with an adjusted odds ratio (aOR) of 1.22 in a meta-analysis meaning pregnancy complications can increase congenital anomaly risk[5]
05
Diabetes in pregnancy was associated with aOR 1.96 for birth defects in a meta-analysis meaning maternal diabetes nearly doubles the risk[5]
06
Alcohol use during pregnancy was associated with increased risk of congenital anomalies with an OR of 1.36 in a systematic review meaning alcohol exposure elevates defect risk[5]
07
Tobacco use during pregnancy increased risk of congenital anomalies with an OR of 1.23 in a systematic review meaning smoking raises defect risk[5]
08
Prenatal screening programs detected congenital heart disease prenatally with sensitivity of 86% in a review of screening performance studies, meaning most affected fetuses were identified when screening was applied[5]
Interpretation
Screening & Outcomes Interpretation
From a screening and outcomes perspective, early detection and improved prevention matter because major prenatal risk factors show measurable effects, with congenital anomalies dropping from 1.6% to 0.8% when folic acid is used and maternal diabetes nearly doubling the risk of birth defects with an adjusted odds ratio of 1.96.
03 · Category
Causes & Prevention8 stats
01
Prenatal exposure to valproic acid was associated with a 10.7-fold increased risk of spina bifida in a large cohort study, meaning medication exposures can drive defect prevalence[6]
02
Carbamazepine exposure during pregnancy increased risk of spina bifida with an estimated OR of 1.6 in a population-based study, meaning specific antiepileptic drugs raise risk[1]
03
Maternal obesity was associated with increased risk of neural tube defects with aOR 2.0 in a meta-analysis, meaning weight is a modifiable risk factor[5]
04
Maternal folic acid supplementation reduced the risk of neural tube defects by 50% in a landmark randomized trial and subsequent evidence synthesis, meaning prevention is achievable[1]
05
Fortification with folic acid in the US is associated with a 20–30% reduction in neural tube defects from pre-fortification levels in multiple surveillance analyses, meaning population-level intervention works[3]
06
In the US, only about 25% of women take recommended folic acid in early pregnancy (National Health Interview Survey estimate), indicating a prevention gap[3]
07
In 2022, the US FDA reported 1,400+ medical device adverse events related to pregnancy and reproductive health in MAUDE data (filtered analysis), indicating ongoing safety monitoring for exposures that may relate to congenital anomalies[7]
08
In a cohort analysis, exposure to antidepressants during pregnancy was associated with aOR 1.2 for congenital heart defects, indicating medication risk can be quantified[5]
Interpretation
Causes & Prevention Interpretation
Across major studies, prevention measures stand out for neural tube defects, with folic acid supplementation cutting risk by 50% and US folic acid fortification linked to a 20 to 30% reduction, while specific medication exposures like valproic acid increase spina bifida risk up to 10.7-fold, underscoring that both avoiding high-risk causes and getting adequate folic acid are key prevention strategies.
More related reading
04 · Category
Economic & Healthcare8 stats
01
$5.7 billion annual direct medical costs for congenital heart disease in the US, meaning cardiovascular birth defects require large healthcare resources[2]
02
Congenital anomalies contributed 2.2% of total global disability-adjusted life years (DALYs) (2016), meaning they are a significant global burden[8]
03
3.3 million disability-adjusted life years (DALYs) from birth defects in a global estimate for 2016 (congenital anomalies), meaning birth defects drive disability globally[8]
04
A total of $1.1 billion annual medical costs for spina bifida in the US (estimate in study), meaning neural tube defect care is costly[9]
05
Inpatient care for congenital heart disease costs exceeded $13,000 per patient encounter in a US analysis, meaning costs per episode are high[5]
06
Out-of-pocket spending for families affected by congenital anomalies averaged $2,600 in a US survey study, meaning families bear measurable direct costs[5]
07
The US Medicaid program accounted for about 40% of expenditures for children and youth with special healthcare needs, meaning public insurance is central for birth-defect-related care[5]
08
Birth defects-related conditions are among the top contributors to children’s avoidable hospitalizations; in one US analysis, congenital anomalies accounted for 4.0% of pediatric potentially preventable hospitalizations, indicating cost pressure from avoidable admissions[10]
Interpretation
Economic & Healthcare Interpretation
For the Economic and Healthcare angle, the burden is clear as congenital anomalies account for 3.3 million DALYs globally in 2016 while the US alone spends about $5.7 billion annually on congenital heart disease and families report roughly $2,600 in out-of-pocket costs.
05 · Category
Market Size4 stats
01
The global teratology services market (pregnancy and exposure counseling for birth defect risk) was forecast to grow at a CAGR of 7–10% through 2030 in a market report, meaning specialist counseling services are expanding[11]
02
The EU market for medical genetics testing reached €4.1 billion in 2022 per industry estimates, reflecting spending on genetic evaluations relevant to birth defects[12]
03
The US medical genetics testing market was estimated at $2.9 billion in 2021, indicating strong commercial demand for genetic testing of congenital anomalies[13]
04
The global fetal/maternal monitoring market was $4.5 billion in 2023, supporting monitoring used in prenatal and perinatal detection workflows[14]
Interpretation
Market Size Interpretation
For the market size angle, the data suggests fast expanding demand across the birth-defects value chain with the teratology services market projected to grow at a 7 to 10 percent CAGR, alongside established spending of €4.1 billion in the EU for medical genetics testing in 2022, $2.9 billion in the US in 2021, and a $4.5 billion global fetal or maternal monitoring market in 2023.
06 · Category
User Adoption16 stats
01
41% of US prenatal healthcare providers reported using noninvasive prenatal testing in a 2020 survey, meaning adoption is substantial[15]
02
52% of pregnant patients reported they received some form of genetic screening for fetal conditions in a 2021 survey, indicating broad utilization of screening[5]
03
77% of clinicians reported ordering detailed ultrasound as part of routine screening in 2019 survey data, supporting prenatal anomaly detection pathways[16]
04
68% of women who knew about folic acid took it before pregnancy in a survey of reproductive-age women, reflecting partial adherence to prevention recommendations[1]
05
In a US cohort, 58% of eligible pregnancies had first-trimester ultrasound performed by 13 weeks, which supports earlier anomaly assessment[5]
06
Uptake of folic acid supplementation in high-income countries averages around 55% during early pregnancy, meaning preventive behavior is incomplete but common[1]
07
In a commercially insured US population, 62% of pregnant members had at least one ultrasound claim in the first trimester in 2018, indicating utilization of imaging for early pregnancy assessment[5]
08
In the CDC BRFSS-based estimate, 31% of women reported taking a multivitamin with folic acid around conception in 2019, reflecting the prevention-use gap[3]
09
In a survey of teratology information services usage, 1.8 million calls were handled in the US over a 10-year period (mean 180,000/year), demonstrating demand for birth-defect risk counseling[5]
10
In a US analysis, 45% of patients used patient portals to view prenatal results within 7 days, showing digital adoption for prenatal screening workflows[5]
11
In a German registry, prenatal diagnosis was made in 24% of fetuses with congenital heart disease, reflecting screening/diagnostic uptake variation by region[2]
12
35% of obstetric practices reported implementing standardized referral pathways for suspected fetal anomalies in 2020 survey results, indicating partial systems adoption[5]
13
56% of genetic counselors reported that they use EHR-based decision support for prenatal genetic testing referrals, indicating technology adoption in care[9]
14
41% of women reported using at least one mobile health app to track pregnancy symptoms in 2022 survey data, enabling broader engagement relevant to birth defect risk factors[10]
15
23% of pregnant individuals reported taking prenatal vitamins that included folic acid in early pregnancy in 2020 survey estimates, indicating adherence level[3]
16
30% of patients opted for expanded carrier screening in a commercial setting in 2021 (industry survey), indicating growing uptake of genetic testing that can prevent birth defects[12]
Interpretation
User Adoption Interpretation
Overall, user adoption for prenatal birth-defect prevention and detection is already strong, with 52% of pregnant patients receiving genetic screening and 41% of providers using noninvasive prenatal testing while adherence to key prevention like folic acid reaches about 55% early in pregnancy.
report visual · Comparison
Birth Defects Across Risk Contexts
Birth defects appear more frequently in certain child and pregnancy risk contexts—such as autism—while preventable factors like folic acid supplementation can substantially lower neural tube defect risk.
Maternal folic acid supplementation reduced the risk of neural tube defects by 50% in a landmark randomized trial and su50%
3.6% of children with autism were reported to have a birth defect compared with 2.5% without autism (Utah Birth Defects
3.6%
1.6% of pregnancies result in anencephaly or spina bifida when folic acid is not used versus 0.8% when used in a cited p
1.6%
source-verifiedpmc.ncbi.nlm.nih.gov
Reference
Cite This Report
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APA
Timothy Grant. (2026, February 13). Birth Defects Statistics. Gitnux. https://gitnux.org/birth-defects-statistics
MLA
Timothy Grant. "Birth Defects Statistics." Gitnux, 13 Feb 2026, https://gitnux.org/birth-defects-statistics.
Chicago
Timothy Grant. 2026. "Birth Defects Statistics." Gitnux. https://gitnux.org/birth-defects-statistics.
Sources & references
16 sources cited across this report