Center for Medical Ethics and Health Policy Staff Publications

Publication Date

9-1-2023

Journal

Clinical Obstetrics and Gynecology

DOI

10.1097/GRF.0000000000000798

PMID

37650673

PMCID

PMC10491429

PubMedCentral® Posted Date

9-1-2024

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes

Keywords

Female, Pregnancy, Humans, Noninvasive Prenatal Testing, Fetus, Physicians, Prenatal Care, Cell-based NIPT, cell-free DNA, noninvasive prenatal testing, circulating trophoblasts, fetal nucleated red blood cells, endocervical trophoblasts

Abstract

Considering the diagnostic limitations of cfDNA-based noninvasive prenatal testing (NIPT), scientists have long been interested in isolating and analyzing rare intact fetal and trophoblast cells from maternal blood or endocervical samples to diagnose fetal genetic conditions. These cells may be scarce and difficult to isolate, but they are a direct source of pure fetal genetic material. In this review, we summarize the history of cell-based NIPT, present an updated review on its current developments, evaluate its genetic diagnostic potential, and discuss its future prospects for clinical use.

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