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Teratogenicity01:07

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Second trimester soft markers: still worth to be mentioned?

Karl Oliver Kagan1, Markus Hoopmann2, Jiri Sonek3,4

  • 1Department of Women's Health, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany. KOKagan@gmx.de.

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|April 9, 2025
PubMed
Summary

Second-trimester soft markers can help assess trisomy 21 risk, even after cell-free DNA screening. This review clarifies their use and association with other genetic abnormalities, including copy number variants.

Keywords:
ARSAEchogenic bowelEchogenic focusNIPTNasal boneNuchal foldShort femurSoft marker

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Area of Science:

  • Prenatal diagnosis and genetic screening
  • Fetal medicine and obstetrics

Background:

  • Cell-free DNA (cfDNA) screening is common for trisomy 21, yet second-trimester soft markers are still used.
  • This creates confusion regarding risk assessment, particularly when combined with earlier cfDNA results.
  • Soft markers may indicate chromosomal abnormalities beyond trisomy 21.

Purpose of the Study:

  • To review common second-trimester soft markers for trisomy 21.
  • To explain their role in risk calculation for trisomy 21.
  • To discuss associations with other chromosomal and structural abnormalities, focusing on copy number variants.

Main Methods:

  • Review of existing literature on second-trimester soft markers.
  • Analysis of risk calculation methodologies incorporating soft markers.
  • Discussion of associations between soft markers and genetic abnormalities, emphasizing copy number variants.

Main Results:

  • Soft markers provide additional risk assessment for trisomy 21, complementing cfDNA screening.
  • Certain soft markers are linked to various chromosomal and structural abnormalities.
  • Pathogenic copy number variants are frequently associated with these markers and are challenging to detect via cfDNA or karyotyping.

Conclusions:

  • Second-trimester soft markers remain valuable in prenatal risk assessment for trisomy 21.
  • Understanding marker associations aids in identifying broader genetic risks, including copy number variants.
  • Integrated approaches combining cfDNA, soft markers, and advanced genetic analysis are crucial for comprehensive prenatal evaluation.