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Related Experiment Video

Updated: Apr 26, 2026

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Screening for Down syndrome.

Kevin Spencer1

  • 1Prenatal Research Unit, Department of Clinical Biochemistry, Barking Havering & Redbridge University Hospitals NHS Trust, King George Hospital , Goodmayes , UK.

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|August 2, 2014
PubMed
Summary
This summary is machine-generated.

Screening for Down Syndrome has evolved from maternal age to include biochemical markers and ultrasound in the first trimester. Future strategies may incorporate cell-free DNA testing for improved aneuploidy detection.

Keywords:
AneuploidyPAPP-Afirst trimestermaternal serumnuchal translucencyβ-hCG

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Area of Science:

  • Prenatal screening
  • Maternal serum screening
  • Fetal aneuploidy

Background:

  • Down Syndrome screening initially relied on maternal age.
  • Advancements include biochemical markers and algorithms for trisomy 21 and 18 risk estimation.
  • Second-trimester screening utilized four biochemical markers: alpha-fetoprotein, total hCG, unconjugated estriol, and free β-hCG.

Purpose of the Study:

  • To review the evolution of Down Syndrome screening.
  • To discuss first-trimester screening methods and influencing factors.
  • To explore future directions in prenatal aneuploidy screening.

Main Methods:

  • Review of historical and current screening methodologies.
  • Discussion of first-trimester combined test (ultrasound Nuchal Translucency, free β-hCG, PAPP-A).
  • Analysis of maternal and pregnancy factors affecting marker concentrations.

Main Results:

  • First-trimester screening combines ultrasound and biochemical markers (free β-hCG, PAPP-A).
  • Maternal and pregnancy factors can influence biochemical marker levels.
  • Cell-free DNA techniques show potential for future screening improvements.

Conclusions:

  • First-trimester screening, particularly the combined test, is advancing prenatal care.
  • Future strategies may integrate cell-free DNA for enhanced aneuploidy detection.
  • There is a need to shift focus to early assessments (11-13 weeks) in antenatal care.