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

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Antenatal noninvasive DNA testing: clinical experience and impact.

Millie A Ferres¹, Lisa Hui², Diana W Bianchi¹

¹Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts.

American Journal of Perinatology

|April 1, 2014

Summary

Noninvasive prenatal testing using cell-free fetal DNA (cfDNA) in maternal blood has revolutionized antenatal care. Advances in sequencing enable cfDNA tests for fetal conditions, with future applications expanding to genetic disorders.

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Area of Science:

Genetics
Molecular Biology
Obstetrics

Background:

Discovery of cell-free fetal DNA (cfDNA) in maternal blood revolutionized prenatal testing.
Advances in DNA sequencing technology have accelerated the clinical adoption of cfDNA-based prenatal tests.

Purpose of the Study:

To review technical approaches and clinical applications of noninvasive cfDNA testing in maternal plasma.
To discuss the impact of cfDNA testing on clinical care and propose integration models.
To outline future directions for noninvasive prenatal testing.

Main Methods:

Review of current literature on cfDNA analysis in maternal plasma.
Analysis of technical advancements in DNA sequencing and bioinformatics.
Evaluation of clinical utility and integration strategies for cfDNA testing.

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Main Results:

Noninvasive testing for fetal Rhesus D antigen status, fetal sex, and common chromosomal aneuploidies using cfDNA is established.
Current cfDNA aneuploidy testing is considered screening, not diagnostic.
Future applications may include detection of subchromosomal aneuploidies and single-gene disorders.

Conclusions:

Cell-free DNA testing has become a cornerstone of modern prenatal diagnostics.
Continued technological and bioinformatics advancements promise expanded noninvasive prenatal testing capabilities.
The field is evolving towards comprehensive noninvasive fetal genomic analysis.