4] Nonstandard abbreviations: NIPD
, noninvasive prenatal diagnosis; SNP, single- nucleotide polymorphism; RHDO, relative haplotype dosage; CVS, chorionic villus sampling; PE, paired-end; SOAP2, Short Oligonucleotide Alignment Program 2; Hapl, haplotype I; SPRT, sequential probability ratio test
Proof of principle publications about new technologies consistently mention how consumers will welcome new tests such as NIPD
, as it removes the risk associated with an invasive procedure, (14) and likewise for MCA, which has improved diagnostic strength compared to karyotyping.
The test procedure is very simple as doctors will send blood sample of the mother to the lab at NIPD
Genetics in Nicosia, which will be analysed through the Veracity method and results will be sent back to the gynaecologist seven to ten days later.
based on detection of allelic imbalance requires accurate measurement of the fractional fetal DNA concentration, which can be estimated only by using a DNA sequence not present in the mother.
Currently, the US NIPD
sector is characterized by the presence of players like Sequenom, Verinata, Ariosa and Natera.
has been more challenging for conditions in which analysis of maternal alleles is required owing to the ubiquitous presence of free maternal DNA in plasma.
Increasing maternal age, improved screening algorithms, the clinical utility of prenatal diagnostic array technologies, and the maturation of NIPD
technologies are contributing to the long-term demand for prenatal testing.
Attempts to recover fetal cells focused for a time on fetal nucleated red blood cells via analysis with fluorescence in situ hybridization and the PCR, but the disappointing results led to skepticism that NIPD
would ever become a reality.
NIH funds Gene Security Network (GSN) NIPD
trial (Photo: Business Wire)
Test The Major Chromosomal Aneuploidies and their Incidence Rate Covered in the report are: 1.
The identification in 1997 of cell-free fetal DNA in maternal plasma (1) has facilitated the development of noninvasive prenatal diagnosis (NIPD
)  (2), which is free of procedure-related risks; however, the coexistence in maternal plasma of a minor population of fetal DNA within a major background of maternal DNA (3) has posed challenges for extending NIPD
applications beyond those focusing on the detection of paternally inherited fetal alleles (1,4).