The latest genetic tests including NIPT are available at the centre
Bloom IVF has launched BAUFICI Genetics Laboratory with advanced state-of-the-art facilities to support successful IVF treatments. The latest genetic tests including NIPT will be available at BAUFICI Genetics to detect abnormalities at different levels of pregnancy.
High-tech investigations including Expanded Carrier Screening, Pre-implantation Genetic Testing, Non-Invasive Chromosomal Screening, Non-Invasive Parental Testing, Fragile X Syndrome, Duchenne muscular dystrophy, Microdeletion testing, BRCA1 & 2 screening, Sperm DNA fragmentation, Karyotyping, Amniocentesis, Double/ Quadruple Marker test and prenatal ultrasound are some of the prenatal and antenatal tests, which are being done at the Laboratories deal with genetic defects.
“The fear that engulfs every expectant parent these days, is the the outcome of pregnancy: whether the baby will be healthy or have any defects, unfortunately, if the genetic problem is detected late, then it would lead to the birth of a physically and/or cognitively challenged child,” said Dr Hrishikesh Pai, Gynaecologist & Infertility Specialist.
“The standard method where one can do genetic screening of the the pregnant woman either in the first three months or next three months of pregnancy. In the first three months, traditionally you can do the dual marker blood test in combination with the sonographic examination of the baby’s nuchal thickness at 11 weeks. However, nowadays instead of doing a Dual Marker Blood test, one can do a Non-Invasive Prenatal Test (NIPT)
on the blood of the mother from 10th (2.5-months) to 20th (5-months) weeks of pregnancy,” Dr Pai elaborated.
“Down’s syndrome can be screened in the second trimester by doing a screening on the mother’s blood called the Quadruple Marker Test in association with the ultrasound examination of the baby at 18 weeks of pregnancy. One can also do a NIPT test on a mother’s blood. If the Dual Marker, NT scan, Quadruple Marker, NIPT comes positive then confirmation of Down Syndrome is done by doing genetic testing by karyotype method on the tissue obtained by chorion villus sampling or amniocentesis,” he added.
Dr Nandita Palshetkar, gynaecologist and infertility specialist, said, “NGS technologies including NIPT are ahead of all other technologies as they provide high-quality genetic information with accuracy. The next-generation sequencing is designed to employ massively parallel strategies to produce large amounts of DNA sequencing, from multiple samples at very high-throughput and at a high degree of sequence coverage. NGS also is more effective in assessing mosaicism in embryos, following PGTa.”
