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Updated: Mar 13, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

A Forward Look At Noninvasive Prenatal Testing.

Li Liu¹, Kang Li², Xin Fu³

¹Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

Trends in Molecular Medicine

|October 12, 2016

Summary

This summary is machine-generated.

Non-invasive prenatal testing (NIPT) analyzes fetal DNA in maternal blood, offering a safer alternative to detect genomic abnormalities. This review explores NIPT

Keywords:

allele aneuploidy cfDNA monogenic diseases subchromosomal

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Area of Science:

Genetics
Maternal-Fetal Medicine
Molecular Diagnostics

Background:

Genomic abnormalities are a primary cause of birth defects and pregnancy loss.
Invasive diagnostic methods carry risks for both mother and fetus.
Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA in maternal circulation.

Purpose of the Study:

To review current advancements in diagnostic non-invasive prenatal testing (NIPT).
To discuss the applications and limitations of NIPT.
To explore future technological developments and clinical uses of NIPT.

Main Methods:

Review of current scientific literature on non-invasive prenatal testing.
Analysis of diagnostic applications, limitations, and future trends in NIPT.

Main Results:

NIPT provides a safer alternative for detecting fetal genomic abnormalities.
Existing NIPT technologies have demonstrated significant clinical utility.
Ongoing research indicates potential for expanded NIPT applications.

Conclusions:

NIPT is a rapidly evolving technology with growing clinical adoption.
Further development promises broader diagnostic capabilities beyond current NIPT screening.
The future of NIPT includes enhanced accuracy and expanded clinical applications in prenatal diagnostics.