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Fetal gender impact on multiple-marker screening results
L B Bazzett1, Y Yaron, J E O'Brien
1Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
American Journal of Medical Genetics
|April 29, 1998
Summary
Maternal serum screening for Down syndrome (DS) shows gender-specific differences. Maternal serum alpha-fetoprotein (MSAFP) and human chorionic gonadotropin (hCG) levels vary by fetal sex, potentially impacting DS risk calculations.
Area of Science:
- Obstetrics and Gynecology
- Prenatal Diagnostics
- Biochemistry
Background:
- Maternal serum screening using MSAFP, hCG, and uE3 combined with maternal age aids in Down syndrome (DS) risk assessment.
- Elevated hCG and reduced MSAFP/uE3 levels are associated with increased DS risk.
- Fetal gender is a known factor influencing some prenatal biochemical markers.
Purpose of the Study:
- To investigate potential gender-related differences in second-trimester maternal serum marker levels (MSAFP, hCG, uE3).
- To determine if these differences could affect the calculated Down syndrome risk in pregnancies.
- To evaluate the utility of incorporating fetal sex into DS risk stratification.
Main Methods:
- Retrospective analysis of a large cohort of second-trimester maternal serum samples from pregnancies with known outcomes.
- Data included measurements of MSAFP, hCG, and uE3, alongside documented fetal gender.
- Statistical evaluation of marker levels in relation to fetal sex.
Main Results:
- Maternal serum alpha-fetoprotein (MSAFP) levels were significantly lower in pregnancies with female fetuses compared to males.
- Human chorionic gonadotropin (hCG) levels were significantly higher in pregnancies with female fetuses than males.
- No significant gender-related difference was observed for unconjugated estriol (uE3) levels.
Conclusions:
- Observed gender-specific differences in MSAFP and hCG may lead to a higher computed DS risk for female fetuses.
- This contrasts with the similar incidence of DS in both genders.
- Incorporating fetal sex into DS risk calculations, potentially via ultrasonographic determination, warrants further investigation for improved accuracy.