Not even noninvasive cell-free DNA can rescue preimplantation genetic testing

Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy

Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...

Microarray-based cell-free DNA analysis improves noninvasive prenatal testing.

OBJECTIVE To develop a microarray-based method for noninvasive prenatal testing (NIPT) and compare it with next-generation sequencing. METHODS Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR pr...

Preimplantation Genetic Testing

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Preimplantation Genetic Testing

Preimplantation genetic testing (PGT) involves analysis of biopsied cells as part of an assisted reproductive procedure. It is generally considered to be divided into 2 categories. Preimplantation genetic diagnosis (PGD) is used to detect a specific inherited disorder and aims to prevent the birth of affected children in couples at high risk of transmitting a disorder. Preimplantation genetic s...

Preimplantation Genetic Testing