OBJECTIVES The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). METHODS This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. RESULTS The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21...

OBJECTIVE Several non-invasive prenatal testing (NIPT) methods, which analyze circulating fetal cell-free DNA (cfDNA) in maternal plasma, suggest a fetal fraction (FF) ≥ 4% for a reportable result, with the assumption that fetal aneuploidies may not be detectable at lower FF. This study determined the actual limit of detection (LOD) of a massively parallel sequencing-based NIPT method and evalu...

Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated major minor malformations can be screened by antenatal scan first- second-trimester biochemical screening. We describe a case risk trisomy on NIPT, but without any abnormalities scan. As r...

The potential of cis-diamminedichloroplatinum(II) (CDDP), trans-di(2-nitroimidazole)dichloro-platinum(II) (NIPt),

BACKGROUND Research on noninvasive prenatal testing (NIPT) of fetal trisomy 21 is developing fast. Commercial tests have become available. To provide an up-to-date overview of NIPT of trisomy 21, an evaluation of the methodological quality and outcomes of diagnostic accuracy studies was made. METHODS We undertook a systematic review of the literature published between 1997 and 2012 after sear...

BACKGROUND Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This low coverage sequencing approach could have potential for ovarian cancer screening in the non-pregnant population. Our objective was to investigat...

This review systematizes scientific data on the possibilities and limitations of combined prenatal screening for detecting common chromosomal abnormalities (CA) in first trimester pregnancy, as well an innovative technology – non-invasive test (NIPT) based free fetal DNA fraction. A current clinical guidelines place NIPT models screening, experience various countries implementation national pro...

The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have ...

Non-invasive prenatal testing (NIPT) is an emerging technology for detecting chromosomal disorders in the fetus and mass media may have an impact on shaping the public understanding of its promise and challenges. We conducted a content analysis of 173 news reports to examine how NIPT was portrayed in English-language media sources between January 1 and December 31, 2013. Our analysis has shown ...

Noninvasive prenatal testing and fetal sonographic screening roundtable discussion Lee W, Yagel S, Cohen, SM, Benacerraf BR, Cuckle H, Kagan KO, Van den Veyver I, Wapner R. J Ultrasound Med 2015; 34 (3): 363–69. Seven leading clinicians from Israel, USA, England and Germany were sent 10 questions about non-invasive prenatal testing (NIPT) and their responses were summarised. As might be expecte...