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Related Experiment Video

Updated: Feb 24, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Carlo Vermeulen1, Geert Geeven1, Elzo de Wit1

  • 1Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands.

American Journal of Human Genetics
|August 29, 2017
PubMed
Summary

A new non-invasive prenatal diagnostic (NIPD) method, monogenic NIPD (MG-NIPD), accurately predicts fetal gene inheritance from parental blood samples. This breakthrough allows early detection of monogenic diseases, improving prenatal care for at-risk families.

Keywords:
CAHNIPDTLAbeta thalassemiacell-free DNAcfDNAcongenital adrenal hyperplasiacystic fibrosismonogenic diseasesnon-invasive prenatal diagnosistargeted haplotypingtargeted locus amplification

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Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Cell-free fetal DNA (cffDNA) in maternal blood offers non-invasive prenatal testing opportunities.
  • Maternal cell-free DNA (cfDNA) complicates direct observation of fetal alleles for monogenic diseases.
  • Current non-invasive prenatal diagnostics (NIPD) for monogenic diseases lack routine clinical application.

Purpose of the Study:

  • To develop and validate a novel method for non-invasive prenatal diagnosis of monogenic diseases.
  • To enable accurate prediction of fetal gene inheritance using maternal and parental blood samples.
  • To establish a clinically applicable prenatal diagnostic test for severe monogenic conditions.

Main Methods:

  • Monogenic NIPD (MG-NIPD) utilizes targeted locus amplification (TLA) for parental haplotyping.
  • Capture probe-based targeted sequencing of maternal cfDNA.
  • Tailored statistical analysis to predict fetal gene inheritance from cffDNA.

Main Results:

  • MG-NIPD successfully predicted inherited alleles in 18 pregnancies with >98% confidence.
  • Accurate predictions were achieved as early as 8 weeks of gestation.
  • Results were validated against fetal material from invasive procedures, confirming parental haplotyping accuracy.

Conclusions:

  • MG-NIPD is a robust and accurate method for non-invasive prenatal diagnosis of monogenic diseases.
  • The technique requires standard instrumentation and is suitable for clinical implementation.
  • MG-NIPD provides a simple blood-draw-based prenatal diagnostic option for families at risk of severe monogenic disorders.