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Related Experiment Video

Updated: Nov 3, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Novel Approaches to Develop Critical Reference Materials for Noninvasive Prenatal Testing: A Pilot Study.

Katherine Bianco1, Elizabeth B Sherwin1, Yves Konigshofer2

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Stanford University School of Medicine, Stanford, CA, USA.

The Journal of Applied Laboratory Medicine
|June 3, 2021
PubMed
Summary

Reference materials from maternal blood can be used to develop noninvasive prenatal testing (NIPT) assays for chromosomal abnormalities. This study demonstrates the utility of amplified cell-free DNA (ccfDNA) for improving NIPT accuracy.

Keywords:
NIPTmicrodeletionsreference materialsequencingsex chromosomestrisomies

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Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • High-quality reference materials are crucial for advancing noninvasive prenatal testing (NIPT) to detect low-incidence aneuploidies and microdeletions.
  • Current NIPT methods require well-characterized materials for accurate development and validation.

Purpose of the Study:

  • To develop novel reference materials for next-generation circulating cell-free DNA (ccfDNA) assays.
  • To evaluate the feasibility of using maternal plasma-derived ccfDNA for NIPT development.

Main Methods:

  • A prospective study involving pregnancies with positive prenatal genetic screening.
  • Isolation and amplification of ccfDNA from maternal plasma.
  • Preparation and immortalization of lymphoblastoid cell lines from maternal and fetal cells.
  • Testing of amplified DNA and lymphoblastoid-derived ccfDNA using SNP-based and chromosome counting (CC) massively parallel sequencing assays.

Main Results:

  • Cases included fetuses with trisomy 21, trisomy 18, T18-XXX, XYY, microdeletions, and euploid controls.
  • While sonicated genomic DNA from cell lines was not compatible with NIPT, amplified ccfDNA from maternal blood was correctly identified by NIPT platforms in most cases.
  • ccfDNA isolation yielded approximately 2000 usable genome equivalents per case for amplification.

Conclusions:

  • Maternal blood samples from pregnancies with chromosomal abnormalities can serve as valuable materials for NIPT assay development and evaluation.
  • The study validates the use of amplified ccfDNA for creating robust NIPT assays.
  • This approach supports the expansion of NIPT for a wider range of genetic conditions.