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Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...

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Updated: Aug 17, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Comparing Non-invasive Prenatal Testing With Invasive Testing for the Detection of Trisomy 21.

Rifat Mokhtar¹, Punit Hans², Anjana Sinha²

¹Obstetrics and Gynecology, Bhagwan Mahavir Institute of Medical Sciences, Pawapuri, IND.

|December 14, 2022

Summary

This summary is machine-generated.

Non-invasive prenatal testing (NIPT) accurately detects trisomy 21, showing 100% sensitivity and specificity. This highly effective test offers a valuable alternative to invasive procedures like amniocentesis for prenatal screening.

Keywords:

amniocentesis cell-free fetal dna down syndrome nipt non-invasive prenatal test trisomy trisomy 21

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Area of Science:

Maternal-fetal medicine
Genetics
Prenatal diagnostics

Background:

Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA (cffDNA) in maternal blood for aneuploidy screening.
NIPT offers high sensitivity and specificity, becoming a popular alternative to traditional screening and invasive diagnostic tests.
Amniocentesis, the gold standard for prenatal diagnosis, is invasive and carries procedure-related risks.

Purpose of the Study:

To compare the performance of NIPT against amniocentesis in pregnancies with positive screening for fetal trisomy.
To evaluate the diagnostic accuracy of NIPT for trisomy 21.

Main Methods:

An analytic cross-sectional prospective study was conducted over 2.5 years.
34 pregnant women with second-trimester positive screening for trisomy 21 were enrolled.
Participants underwent both NIPT and amniocentesis for comparison.

Main Results:

Out of 34 women, 31 underwent NIPT, and 28 confirmed trisomy 21 on both NIPT and amniocentesis.
NIPT demonstrated 100% sensitivity (95% CI: 87.66–100.00%) for trisomy 21.
NIPT exhibited 100% specificity (95% CI: 29.24–100.00%) for trisomy 21.

Conclusions:

Non-invasive prenatal testing (NIPT) demonstrates high performance and effectiveness in detecting fetal trisomy 21.
NIPT serves as a highly accurate prenatal screening tool, comparable to invasive diagnostic methods.
Further research is needed to optimize the clinical integration of NIPT.