Birth Defects

Birth defects are structural changes present at birth that can affect almost any part of the body, such as the heart, brain, or foot. They may affect how the body looks, works, or both.

Affects 1 in every 33 babies born in the US each year. Accounting for 20% of all infant deaths, 1 in 5.

For most birth defects, we don’t know what causes them. However, we have learned that some things might increase the chances of having a baby with a birth defect, such as:

  • smoking, drinking alcohol, or taking certain drugs during pregnancy

  • having certain medical conditions, such as uncontrolled diabetes

  • taking certain medications, such as isotretinoin (used to treat acne)

  • having someone in your family with a birth defect

  • getting certain infections during pregnancy, such as cytomegalovirus or Zika

  • having fever greater than 101 degrees F or having elevated body temperature

The age at which you have a child can also influence the risk for birth defects. Some defects are seen more among young mothers whereas the risk for chromosomal malformation defects increases with age. You can still have a baby with a birth defect even if you don’t have any of these known risks, and having one of these risks doesn’t mean that your baby will have a birth defect.

Prenatal screening tests can identify whether your baby is more or less likely to have certain birth defects.

An estimated frequency of birth defects in the United States is as follows:

Defect

Anencephaly

Encephalocele

Spina bifida without anencephaly

Anophthalmia/microphthalmia

Atrioventricular septal defect

Coarctation of the aorta

Common truncus

Double outlet right ventricle

Ebstein anomaly

Hypoplastic left heart syndrome

Interrupted aortic arch

Pulmonary valve atresia and stenosis

Pulmonary valve atresia

Single ventricle

Tetralogy of Fallot

Anomalous pulmonary venous connection

Transposition of the great arteries

Dextro-transposition of great arteries

Tricuspid valve atresia and stenosis

Tricuspid valve atresia

Cleft lip with and without cleft palate

Cleft lip with cleft palate

Cleft lip alone

Cleft palate alone

Clubfoot

Diaphragmatic hernia

Gastroschisis

Limb deficiencies

Omphalocele

Esophageal atresia/tracheoesophageal fistula

Rectal and large intestinal atresia/stenosis

Trisomy 13 (Patau Syndrome)

Trisomy 18 (Edwards Syndrome)

Trisomy 21 (Down Syndrome)

Brain/Spine

Eye

Heart

Mouth/face

Muscle/bone

Stomach/intestine

How many babies are affected each year?

700

354

1278

723

2145

2146

230

867

284

929

365

3779

548

239

1768

486

1097

928

665

325

3560

2320

1240

2321

6850

1143

1506

1779

914

882

1654

527

1101

5713

Chromosome (gene) malformations