Genetic counseling provides information to individuals or families affected by hereditary conditions. It explains the risk of passing a disorder to future generations and helps patients understand potential outcomes and make informed decisions.
Detection Rates
The following are the estimated detection rates of major and minor structural anomalies during detailed ultrasound between 18–23 weeks of pregnancy:
- Anencephaly (absence of the brain): 100%
- Spina bifida (open spine): 95–98%
- Hydrocephalus (fluid accumulation in the brain): 75%
- Holoprosencephaly: 100%
- Lissencephaly (smooth brain): 0%
- Microcephaly (small head size): 50%
- Cleft lip: 95%
- Cleft palate: 30–40%
- Diaphragmatic hernia: 70%
- Esophageal atresia (blocked esophagus): <50%
- Congenital heart anomalies: 70–80%
- Abdominal wall defects: 95–100%
- Kidney and urinary tract anomalies: 50–75%
- Skeletal system anomalies: 75–100%