You are here

What You Need to Know About Birth Defects

SICKLE-CELL ANEMIA, an abnormality in the hemoglobin produced by red blood cells (1 in 400 African-American babies).

  • Diagnosis Can be detected in the first trimester with chorionic villus sampling (CVS), in the second trimester with amniocentesis, or after birth with blood tests.
  • Treatment Daily penicillin.

CLEFT LIP AND/OR CLEFT PALATE (1 in 730 births).

  • Diagnosis Ultrasound in the second trimester may detect these facial deformities, or they're apparent at birth.
  • Treatment Surgery: for a cleft lip at 3 months; for a cleft palate at age 1.

CLUBFOOT (1 in 1,000 births).

  • Diagnosis Sometimes seen on ultrasound during the second trimester, but usually diagnosed at birth.
  • Treatment May be possible to correct through exercise. In severe cases, a baby can wear a cast or may need surgery.

DOWN'S SYNDROME (1 in 900 births, although incidence depends on mother's age).

  • Diagnosis CVS in first trimester; alpha-fetoprotein (AFP) test and amnio in the second. Researchers are working on new tests of the mother's blood and urine that may be performed during the first trimester.
  • Treatment Varies according to severity. Breastfeeding is often recommended to optimize a baby's overall health and development; surgery may be needed for heart defects or vision or gastrointestinal problems.

NEURAL-TUBE DEFECTS, such as anencephaly (the absence of a part of the brain and skull) or spina bifida (in which the spinal column doesn't form properly) (1 in 1,600 births).

  • Diagnosis Detected during AFP screenings in the second trimester, followed by ultrasound and amnio.
  • Treatment Anencephaly is untreatable; spina bifida may be helped with surgery.