Updated on 18 June 2013
Genetic test for pre-natal care
Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy, for detecting any fetal abnormalities. Traditional prenatal serum screening has high error rates, and invasive prenatal testing comes with a risk of miscarriage or infection. China-based Berry Genomics, a start-up company, has developed a novel and non-invasive prenatal detection technology to reduce the birth defect rate in China. Berry Genomics sequences cell-free genomic DNA from maternal plasma, which contains fetal DNA, and looks for an over representation of DNA from certain chromosomes.
Similarly, fetal chromosomal aneuploidy disease is one of the most common birth defects, and is a leading cause of death for infants during the first year of life. Patients with fetal chromosomal aneuploidy tend to have some impairment of cognitive ability and physical growth as well as abnormal appearance, including facial features, limbs, internal organs, among others.
BGI, China's largest genomics organization, has developed non-invasive fetal trisomy (NIFTY) test to detect fetal chromosomal abnormalities in pregnant women. NIFTY is a blood test that analyzes fetal DNA in maternal blood to detect chromosomal abnormalities. It is a non-invasive screening test that requires a 5ml blood sample from 12-week or more pregnant women, and it provides highly accurate prenatal test results for Down Syndrome, Patau Syndrome and Edwards Syndrome.
INEX, a women's health diagnostic company in Singapore, has built a next generation sequencing facility to offer a suite of molecular genetics tests, starting with a non-invasive fetal trisomy (NIFTY) test from BGI to detect fetal chromosomal abnormalities in pregnant women.