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Related Experiment Video

Updated: Nov 11, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing.

Shoufang Qu1, Yanyan Zhang2, Xin Yang3

  • 1National Institutes for Food and Drug Control (NIFDC), Beijing, China.

Gynecologic and Obstetric Investigation
|March 30, 2021
PubMed
Summary

A new reference material was developed to ensure the quality of noninvasive prenatal testing (NIPT). This material helps evaluate NIPT services for detecting fetal chromosomal anomalies across different providers and sequencers.

Keywords:
Cell-free fetal DNANoninvasive prenatal testingReference materialStandard quality controlTrisomy

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Area of Science:

  • Genomics
  • Molecular Diagnostics
  • Prenatal Screening

Background:

  • Noninvasive prenatal testing (NIPT) is crucial for detecting fetal chromosomal anomalies.
  • A standardized reference material for NIPT quality control is currently lacking.

Purpose of the Study:

  • To establish a comprehensive reference material for NIPT evaluation.
  • To assess NIPT performance across different sequencers and sample conditions.

Main Methods:

  • Developed 192 simulated NIPT samples including factors like fetal fraction and mosaicism.
  • Evaluated NIPT performance on NextSeq 500, BGISEQ-500, and Ion Proton sequencers.

Main Results:

  • All tested sequencers achieved high accuracy for samples with ≥3.5% fetal fraction and high mosaicism.
  • The reference material effectively simulated various NIPT scenarios.

Conclusions:

  • The developed reference material provides a universal quality control standard for NIPT.
  • This standard supports both current and future NIPT providers using diverse sequencing platforms.