The field of prenatal genetic testing has exploded with new non-invasive technologies and test options in the past several years. It is challenging for women's healthcare providers to keep up with the multitude of publications and provide patients with the most accurate and up-to-date information possible regarding prenatal testing. In this article, we examine the sequencing technologies that p...

Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks' gestati...

Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...

The cytotoxicities of cis-diamminedichloroplatinum(II) (CDDP) and of three recently developed dichloro complexes of bivalent platinum with radiosensitizing ligands [(1,2-diamino-4-nitrobenzene)dichloroplatinum(II) (Plato), trans-bis(2-amino-5-nitrothiazole)dichloroplatinum(II) (Plant), and trans-bis(2-nitroimidazole)dichloroplatinum(II) (NIPt)] were evaluated at 37 degrees C, 42 degrees C, and ...

Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development has expanded to other genetic conditions such sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplicatio...

Soft markers are sonographic structural, nonspecific signs with little pathological significance, often transient, usually considered as normal variants. However, they may also be associated chromosomal abnormalities. The most widely examined soft include absent or hypoplastic nasal bone (NB), intracardiac echogenic focus (IEF), ventriculomegaly (VM), thickened nuchal fold (NF), choroid plexus ...