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Twin pregnancies require effective aneuploidy screening due to rising incidence. This review covers aneuploidy risks and screening methods like nuchal translucency, serum screening, and cell-free DNA testing for twins.

Keywords:
AneuploidyCell-free DNAMultiple gestationNoninvasive prenatal testingNuchal translucencySerum screening

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Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics

Background:

  • Increasing incidence of twin gestations necessitates improved aneuploidy screening.
  • Current data supporting aneuploidy screening in twins are limited.
  • Unique challenges exist for screening in multiple gestations.

Purpose of the Study:

  • To summarize the risks of aneuploidy in twin gestations.
  • To review available screening methods for aneuploidy in twins.
  • To highlight the need for effective screening strategies.

Main Methods:

  • Review of existing literature on aneuploidy screening in twins.
  • Analysis of data on nuchal translucency (NT) screening.
  • Evaluation of first and second-trimester serum screening efficacy.
  • Assessment of cell-free DNA (cfDNA) screening in twin pregnancies.

Main Results:

  • Aneuploidy risks differ in twin gestations compared to singleton pregnancies.
  • Various screening methods show varying performance in twins.
  • Nuchal translucency, serum screening, and cfDNA screening are discussed.
  • Limited data exist for some methods in twin populations.

Conclusions:

  • Effective aneuploidy screening is crucial for the growing number of twin gestations.
  • Understanding specific risks and method performance is vital for clinical application.
  • Further research is needed to optimize screening protocols for twins.