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First-trimester biochemical markers for Down syndrome.

E Casals1, C Aibar, J M Martínez

  • 1Clinical Biochemistry Laboratory, Hospital Clinic, University of Barcelona, Spain.

Prenatal Diagnosis
|March 12, 1999
PubMed
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Pregnancy-associated protein A (PAPP-A) is the best first-trimester biochemical marker for Down syndrome (DS) screening. Beta human chorionic gonadotrophin (betahCG) or free beta human chorionic gonadotrophin (fbetahCG) serve as effective secondary markers for DS detection.

Area of Science:

  • Maternal-fetal medicine
  • Biochemical screening
  • Genetics

Background:

  • Down syndrome (DS) screening is crucial in early pregnancy.
  • Biochemical markers in maternal serum aid in DS detection.
  • Previous studies have evaluated various markers with varying success.

Purpose of the Study:

  • To assess the value of pregnancy-associated protein A (PAPP-A), free and total beta human chorionic gonadotrophin (fbetahCG, betahCG), and alpha-fetoprotein (AFP) in early pregnancy for Down syndrome screening.
  • To determine the most effective biochemical markers for DS detection in the first trimester.

Main Methods:

  • Maternal serum samples from 32 DS pregnancies and 267 controls were analyzed.
  • Analytes measured included AFP, betahCG, and PAPP-A.

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  • A subgroup was used to evaluate fbetahCG, with all analytes determined in fresh serum.

    • Main Results:

    • Maternal serum PAPP-A levels demonstrated the highest feasibility as a biochemical marker for DS in the first trimester.
    • Either betahCG or fbetahCG were identified as suitable second markers for DS screening.
    • No significant differences were observed in the distribution levels of betahCG and fbetahCG (as MoMs) between normal and DS pregnancies.

    Conclusions:

    • PAPP-A is the most effective biochemical marker for first-trimester Down syndrome screening.
    • betahCG and fbetahCG are valuable secondary markers for DS detection.
    • The study supports the use of PAPP-A and betahCG/fbetahCG for improved early pregnancy DS screening.