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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Screening for aneuploidy in twins.

Maeve K Hopkins1, Lorraine Dugoff2

  • 1Division of Maternal and Fetal Medicine, Ob/Gyn & Women's Health Institute, Cleveland Clinic, Cleveland, OH (Dr Hopkins).

American Journal of Obstetrics & Gynecology MFM
|October 11, 2021
PubMed
Summary
This summary is machine-generated.

Screening for aneuploidy in twin pregnancies is challenging. Cell-free DNA screening is recommended first-line, but other methods like nuchal translucency screening are available if needed.

Keywords:
aneuploidy screeningnoninvasive prenatal testingprenatal genetic screeningtwin pregnancy

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Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics

Background:

  • Aneuploidy screening is recommended for all pregnant individuals.
  • Twin pregnancies present unique complexities for aneuploidy screening accuracy.
  • Existing screening methods show reduced accuracy in twin gestations compared to singletons.

Purpose of the Study:

  • To review current aneuploidy screening options for twin pregnancies.
  • To discuss the benefits and limitations of each screening method in twins.
  • To address special considerations like vanishing twins and diagnostic testing.

Main Methods:

  • Literature review of aneuploidy screening modalities in twin pregnancies.
  • Analysis of accuracy, benefits, and limitations of various screening approaches.
  • Examination of specific clinical scenarios impacting screening.

Main Results:

  • No aneuploidy screening method achieves the same accuracy in twin pregnancies as in singleton pregnancies.
  • Cell-free DNA (cfDNA) screening is the preferred first-line approach.
  • Alternative options include nuchal translucency (NT) and maternal serum marker (MSM) screening when cfDNA is unavailable or limited.

Conclusions:

  • Aneuploidy screening in twin pregnancies requires careful consideration of method-specific limitations.
  • Cell-free DNA screening offers a valuable, though not perfect, first-line option.
  • Nuchal translucency and maternal serum marker screening remain important alternatives.