Abstract

Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic conditions [2]. The main benefits of this type of fetal testing over amniocentesis or chorionic villus sampling are the removal of any risk of miscarriage due to invasive testing and obtaining results in the first trimester [2].

Highlights

  • Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]

  • Small fragments of extracellular DNA from both mother and fetus are present in maternal plasma, and by excluding fragments of maternal origin, the fetus can be tested for sex, aneuploidy and some specific genetic conditions [2]

  • There are some differences in the contexts in which NIPT can be used to determine the chance of the fetus being affected by a genetic condition

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Summary

Introduction

Non-invasive prenatal testing (NIPT) is a technique first developed in the early 1990’s that enables testing of a fetus for genetic conditions, based on a sample of maternal blood [1]. There are some differences in the contexts in which NIPT can be used to determine the chance of the fetus being affected by a genetic condition.

Results
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