Could this be the Next Best Method for Prenatal Screening?

Jheets Jots
The Mole Biologists
4 min readApr 12, 2023

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Single Nucleotide Polymorphisms are being detected in non-invasive prenatal tests to predict inheritance of fetal abnormalities.

Photo by National Cancer Institute on Unsplash

Prenatal screening tests can identify if a fetus is predisposed to certain birth defects that are usually genetic. Some of these screenings include serial detection of maternal serum, ultrasound, amniocentesis, and chorionic villus sampling (CVS). Serial detection of maternal serum coupled with nuchal translucency as well as cystic hygroma indicators on ultrasound are often associated with false-negative rates from 12% to 23%. Additionally, detection rates range from only 75% to 96% (depending on the screening approach utilized) and are accompanied by false-positive rates ranging from 1.9% to 5.2%. Confirmatory invasive methods such as amniocentesis and CVS require needle insertion through the skin and into the uterus to collect the samples needed leading to risk of infection, bleeding, or miscarriage.

Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) floating freely in maternal plasma, was introduced clinically in 2011 as a screening method for trisomy 21 (Down syndrome). This NIPT has been well accepted by clinicians as a test for women with increased risk of fetal aneuploidy and it has now been extended to low-risk women in privatized settings4. cffDNA is derived from…

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Jheets Jots
The Mole Biologists

Novice Writer| Tech, Biology, and Social Psych| BSc in Molecular Genetics 🔬 Dreamer 💭 Poet 🖋Tamil Canadian| Creator of https://medium.com/the-mole-biologists