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Updated: Apr 30, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Non-invasive prenatal diagnosis: progress and potential.

Rebecca Daley¹, Melissa Hill², Lyn S Chitty³

¹North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Fetal Medicine Unit, University College London Hospital NHS Foundation Trust, London, UK.

Archives of Disease in Childhood. Fetal and Neonatal Edition

|May 3, 2014

Summary

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Non-invasive prenatal testing using cell-free DNA (cfDNA) in maternal blood offers fetal sex, RhD status, and aneuploidy screening. Future applications may include diagnosing monogenic disorders and whole fetal genome profiling, alongside ethical considerations.

Area of Science:

Genetics
Molecular Biology
Obstetrics

Background:

Non-invasive prenatal testing (NIPT) analyzes cell-free DNA (cfDNA) from maternal circulation.
This technology is rapidly advancing in prenatal diagnostics.

Purpose of the Study:

To review current clinical applications of cfDNA-based NIPT.
To discuss technical, ethical, and service delivery challenges.
To explore future directions in NIPT technology and applications.

Main Methods:

Analysis of cell-free DNA in maternal blood.
Review of current clinical applications and future potential.
Discussion of associated challenges.

Main Results:

Keywords:

Cell-Free Fetal DNA (cffDNA)Fetal Medicine Genetics Non-Invasive Prenatal Diagnosis (NIPD)Non-Invasive Prenatal Testing (NIPT)

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Current NIPT applications include fetal sex determination, RhD status, single gene disorder diagnosis, and aneuploidy screening.

Future applications may expand to a wider range of monogenic disorders and whole fetal genome profiling.

Introduction of NIPT presents benefits alongside ethical, social, and service delivery challenges.

Conclusions:

Cell-free DNA analysis is transforming prenatal diagnosis with expanding applications.
Addressing technical and ethical challenges is crucial for successful clinical integration.
Continued technological evolution will likely broaden the scope and impact of NIPT.