What is it about?
It is about the reliability of Noninvasive prenatal testing (NIPT). NIPT is offered as a screening method for fetal aneuploidies viz., trisomy 18, 13, and 21, few sex chromosome abnormalities viz., monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions viz., cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes. Here in this publication, a case report supporting the reliability of NIPT is presented.
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Why is it important?
The case report shows how a screening test like NIPT is comparable with the gold standard and confirmative tests like Karyotyping and Fluorescence in situ hybridization (FISH) in detecting an abnormality in a fetus.
Perspectives
Through this article, I am able to contribute something to the emerging and promising technique. Through this article, my message is setting aside the cost and the commercial aspect of the test which are going to reduce with time the technique is safe and comparable with the confirmative tests for genetic screening.
Venkataswamy Eswarachari
MedGenome Labs Limited
Read the Original
This page is a summary of: Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization, The Journal of Maternal-Fetal & Neonatal Medicine, June 2018, Taylor & Francis,
DOI: 10.1080/14767058.2018.1481383.
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