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Related Concept Videos

Teratogenicity01:07

Teratogenicity

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.

Miruna Gug1,2, Adrian Rațiu3,4, Nicoleta Andreescu5,6

  • 1Doctoral School, "Victor Babeş" University of Medicine and Pharmacy, 300041 Timisoara, Romania.

Journal of Personalized Medicine
|April 27, 2024
PubMed
Summary

Non-invasive prenatal testing (NIPT) effectively screens pregnancies for fetal chromosomal abnormalities. Invasive confirmation is crucial for high-risk NIPT results to ensure accurate diagnosis and guide management.

Keywords:
CNVscffDNAfetal aneuploidynon-invasive prenatal testingprenatal diagnostics

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Area of Science:

  • Prenatal Diagnostics
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Non-invasive prenatal testing (NIPT) is a valuable screening tool for fetal chromosomal abnormalities.
  • Previous studies have established NIPT's utility, necessitating further investigation with larger cohorts.

Purpose of the Study:

  • To evaluate NIPT performance in a large patient cohort, focusing on high-risk pregnancies.
  • To compare confirmed versus unconfirmed high-risk NIPT cases using direct genetic analysis.
  • To assess the diagnostic accuracy of NIPT for aneuploidies and copy number variations (CNVs).

Main Methods:

  • Analysis of 1400 consecutive cases undergoing NIPT at a single genetic center.
  • Validation of high-risk NIPT results via invasive procedures (chorionic villus sampling, amniocentesis).
  • Confirmation methods included QF-PCR, karyotyping, and SNP-Array analysis.

Main Results:

  • NIPT identified high-risk aneuploidy in 2.57% of cases (36/1400), with 28 confirmed.
  • Increased risk for CNVs was detected in 1% of cases, with two large deletions/duplications confirmed.
  • Trisomy 21 was the only anomaly where all NIPT-identified risks were confirmed.

Conclusions:

  • NIPT is a reliable screening method applicable to all pregnancies.
  • Invasive confirmation testing is strongly recommended for all high-risk NIPT findings.
  • Management decisions, including pregnancy continuation, should be based on confirmed diagnoses.