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Maternal serum screening for fetal genetic disorders
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.
Obstetrics and Gynecology Clinics of North America
|March 1, 1997
Summary
Maternal serum screening detects 85-90% of neural tube defects (NTDs) using elevated maternal serum alpha-fetoprotein (MSAFP) levels. Combined analytes detect 55-60% of Down syndrome cases, with new markers and first-trimester screening showing future promise.
Area of Science:
- Obstetrics and Gynecology
- Medical Diagnostics
- Biochemistry
Background:
- Maternal serum analyte screening is a key part of modern antenatal care.
- It aids in detecting fetal abnormalities like neural tube defects (NTDs) and Down syndrome.
Purpose of the Study:
- To outline the current capabilities of maternal serum screening.
- To discuss emerging markers and strategies for improved prenatal diagnosis.
Main Methods:
- Analysis of maternal serum alpha-fetoprotein (MSAFP) levels for NTD detection.
- Utilizing a panel of serum analytes (MSAFP, hCG, UE3) for Down syndrome screening.
Main Results:
- Elevated MSAFP detects 85-90% of NTDs (anencephaly, spina bifida).
- Combined analytes (MSAFP, hCG, UE3) identify 55-60% of fetal Down syndrome cases.
Conclusions:
- Current maternal serum screening is effective for NTDs and moderately effective for Down syndrome.
- Future screening may incorporate novel markers (inhibin-A, hCG beta-core) and first-trimester methods (PAPP-A, free beta-hCG).