Related Experiment Video

Updated: Jun 3, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Impact of Prenatal Cell-Free DNA Screening on Sex Chromosome Aneuploidy Diagnoses in Infants and Children

Ellen Kim DeLuca1, Ann Chen Wu1,2, Fang Zhang1

  • 1Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.

Prenatal Diagnosis
|June 2, 2026
PubMed

Insights

Prenatal cell-free DNA (cfDNA) screening is linked to higher sex chromosome aneuploidy (SCA) diagnoses in infants. This trend suggests cfDNA screening aids earlier detection of SCAs in young children.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Prenatal cell-free DNA (cfDNA) screening is expanding to include sex chromosome aneuploidy (SCA).
  • There is variability in the accuracy and expressivity of these SCA screening tests.
  • Understanding the impact of cfDNA screening on pediatric SCA diagnoses is crucial.

Purpose of the Study:

  • To evaluate changes in pediatric SCA diagnostic rates.
  • To compare diagnostic rates before and after the introduction of prenatal cfDNA screening.
  • To assess the impact of cfDNA screening on early detection of SCAs.

Main Methods:

  • Controlled interrupted time series analysis using claims data (2008-2019).
  • Analysis of two cohorts: infants (<2 years) and children (2-18 years).
  • Primary outcome measured was quarterly SCA diagnostic rates.

Main Results:

  • An increase in SCA diagnoses was observed post-intervention (2014-2019) compared to pre-intervention (2008-2013).
  • Prenatal cfDNA screening correlated with an immediate rise in infant SCA diagnoses (3.55-6.56 per 100,000).
  • Statistically significant increases in SCA diagnosis level and trend were noted for infants but not children.

Conclusions:

  • Prenatal cfDNA screening is associated with increased SCA diagnosis rates in infants.
  • No significant change in SCA diagnosis rates was observed in older children.
  • These findings suggest cfDNA screening contributes to earlier and more frequent detection of SCAs.
Abstract

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