OBJECTIVES The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method. METHOD A total of 919 archived maternal plasma samples with karyotyping/microarray results, including 33 CNVs samples and 886 normal samples from September 1, 2011 to May 31, 2013, were enroll...

The emergence of effective cell-free fetal DNA-based techniques to screen for trisomy 21 and other aneuploidies has greatly expanded the range of prenatal tests available over the last few years. Non-invasive prenatal testing (NIPT) is rapidly being incorporated into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although NIPT techniques are ...

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...

To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase...

OBJECTIVES To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. METHODS We validated a NIPT protocol for cell-free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument...

We have studied the problem of phase stability in NiPt alloy system. We have used the augmented space recursion based on the TB-LMTO as the method for studying the electronic structure of the alloys. In particular, we have used the relativistic generalization of our earlier technique. We note that, in order to predict the proper ground state structures and energetics, in addition to relativisti...

We discover that Au-rich Cu1-xAux and Pt-rich Ni1-xPtx contain a composition range in which there is a quasicontinuum of stable, ordered "adaptive structures" made of (001) repeat units of simple structural motifs. This is found by searching approximately 3x10(6) different fcc configurations whose energies are parametrized via a "cluster expansion" of first-principles-calculated total energies ...

Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of...

UNLABELLED Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the output...

The discovery of cell-free fetal DNA in maternal plasma opened up new possibilities for noninvasive prenatal testing (NIPT). Conceptual advances in single-molecule counting have resulted in robust methods for the NIPT of fetal chromosomal aneuploidies and subchromosomal aberrations. Such methods are employed worldwide and are among the most rapidly adopted genomic tests. Furthermore, approaches...