Related Experiment Videos
Maternal serum screening for Down's syndrome in early pregnancy
N J Wald1, H S Cuckle, J W Densem
1Department of Environmental and Preventive Medicine, Medical College of St. Bartholomew's Hospital, London.
BMJ (Clinical Research Ed.)
|October 8, 1988
Summary
Measuring human chorionic gonadotrophin in maternal serum effectively screens for Down's syndrome. This improved antenatal screening method offers a higher detection rate and lower false positive rate for Down's syndrome pregnancies.
Area of Science:
- Biochemistry
- Prenatal Diagnostics
- Genetics
Background:
- Antenatal screening for Down's syndrome is crucial for early intervention.
- Current screening methods have limitations in detection rates and false positives.
Purpose of the Study:
- To evaluate the effectiveness of human chorionic gonadotrophin (hCG) measurement in maternal serum for Down's syndrome screening.
- To compare hCG screening with existing methods like maternal age, unconjugated oestriol, and alpha fetoprotein.
Main Methods:
- Maternal serum hCG concentrations were measured in the second trimester.
- Compared hCG levels in pregnancies with Down's syndrome versus unaffected pregnancies.
- Evaluated screening performance based on detection rate and false positive rate.
Main Results:
- Median maternal serum hCG was double in Down's syndrome pregnancies.
- hCG screening alone showed a 30% detection rate with a 3% false positive rate.
- Combining hCG with maternal age, unconjugated oestriol, and alpha fetoprotein reduced the false positive rate to 0.5% at a 30% detection rate.
Conclusions:
- Maternal serum hCG measurement is an effective screening test for Down's syndrome.
- A combined screening approach significantly improves detection rates and reduces false positives.
- This enhanced screening could substantially decrease the incidence of Down's syndrome births.