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Prenatal Screening Using Maternal Markers.

Howard Cuckle1

  • 1Department of Obstetrics and Gynecology, Columbia University Medical Center, 662 W 168th Street, PH1666, New York, NY 10032-3725, USA. hsc2121@columbia.edu.

Journal of Clinical Medicine
|August 4, 2015
PubMed
Summary
This summary is machine-generated.

Maternal marker screening, initially for fetal defects, now expands to pregnancy complications like pre-eclampsia. Advanced multi-marker tests and cell-free DNA offer improved prenatal detection and early intervention strategies.

Keywords:
Down syndromefragile X syndromemarkerspre-eclampsiaprenatal screeningspina bifida

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Area of Science:

  • Maternal-fetal medicine
  • Genetics
  • Obstetrics

Background:

  • Maternal markers are established for screening fetal neural tube defects (NTDs), chromosomal abnormalities, and cardiac defects.
  • Current prenatal screening is expanding to include pregnancy complications, such as pre-eclampsia.
  • Multi-marker tests have evolved from single-marker methods for NTDs to high-performance screening for chromosomal abnormalities.

Purpose of the Study:

  • To review the evolution and expanding applications of maternal marker screening in prenatal diagnostics.
  • To highlight the potential of integrating cell-free DNA testing with existing multi-marker tests.
  • To emphasize the utility of established screening methods for early detection and prevention of pregnancy complications like pre-eclampsia.

Main Methods:

  • Review of existing literature on maternal marker screening techniques.
  • Analysis of the development of multi-marker tests for chromosomal abnormalities.
  • Evaluation of the application of first-trimester screening for pre-eclampsia.

Main Results:

  • Maternal marker screening has successfully evolved from single-marker tests for NTDs to sophisticated multi-marker panels for chromosomal abnormalities.
  • Cell-free DNA testing, while currently costly, shows cost-effectiveness when combined with existing multi-marker tests.
  • Established screening methods can be applied in the first trimester to identify high-risk pregnancies for pre-eclampsia, enabling timely aspirin treatment.

Conclusions:

  • Maternal marker screening is a versatile tool with expanding applications beyond fetal defects to include pregnancy complications.
  • The integration of advanced technologies like cell-free DNA testing can enhance prenatal screening efficacy and cost-effectiveness.
  • Early identification and intervention for conditions like pre-eclampsia through prenatal screening can significantly improve maternal and fetal outcomes.