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.