Genetic disorder imposes huge burden to families with congenital defected children. Aneuploidy disorder is a common form of congenial genetic defect caused by either gain or loss of chromosomes. The most common one is Down syndrome in which one extra chromosome 21 is present in an affected offspring (Trisomy 21). Currently there is no known cure for this genetic defect. In Thailand, approximately 1000 babies per year (~3 affected children per day) are born with Down syndrome. Therefore, prenatal diagnosis technique is continuously developed to early screen genetic defect of a fetus.
Non-invasive prenatal screening (NIPT/NIPS) is becoming very popular as the screening procedure noninvasively analyzes cell-free fetal DNA from maternal plasma. The small amount of the fetal DNA will be sequenced using massively parallel shotgun sequencing (MPSS) and the resulting read-fragments will be aligned to a human reference sequence in order to statistically determine whether aneuploidy exists on a specific region of chromosome.
Although the NIPT service has been popularly offered by many hospitals in Thailand, such a service is not operated/practiced directly by Thais medical personals. Hence, to be able to sustainably operate NIPT service as well as expand NIPT for other prenatal screening, we need to have the NIPT core analysis technology (all of the technologies are proprietary/trade secret). The proposal seeks to collaboratively develop an NIPT technology platform along with training medical personnels to operate the screening protocol that utilize our own genetic anomaly database developed for Thai population.
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