Prenatal genetic screening can help detect abnormalities before childbirth


Genetic disorders constitute a growing proportion of stillbirths, infant mortality, morbidity, disability and Down syndrome. For a better outcome of pregnancy, women should pay attention to certain genetic defects and these may be due to monogenic mutations and chromosomal abnormalities. Pregnant women no longer have to worry. Next-generation sequencing technology (NGS) has all the potential to transform the way experts treat genetic defects to ensure better pregnancy outcomes.

Every year on March 21, World Down Syndrome Day is celebrated to raise awareness of Down’s syndrome. It is a condition in which a child is born with an extra 21st chromosome. Down syndrome is a critical genetic defect found at a rate of one in two thousand babies born to women under 35 and one in 50 over 35.

Many genetic abnormalities, including chromosomal abnormalities such as Down syndrome, can be detected by genetic testing during pregnancy. Other disorders that can be detected include cystic fibrosis, muscular dystrophy, hemophilia, polycystic kidney disease, sickle cell anemia and thalassemia.

“The fear that overwhelms all future parents these days is the result of pregnancy: whether the baby is healthy or has defects, unfortunately, if the genetic problem is detected late, it would lead to the birth of a child. physically and / or a child with cognitive impairment, ”said Dr Hrishikesh Pai, Gynecologist and Infertility Specialist, Bloom IVF at Fortis GK-2 Hospital in New Delhi and Lilavati Hospital in Mumbai. On World Down Syndrome Day, Bloom IVF – an award winning chain of fertility clinics in India launched the BAUFICI Genetics Lab with state-of-the-art facilities to support successful IVF treatments.

“The standard method where we can do a genetic screening of the pregnant woman either during the first 3 months or the next three months of pregnancy. During the first three months, you can traditionally do the double-marker blood test in combination with the ultrasound examination of the baby’s nuchal thickness at 11 weeks. However, nowadays, instead of having a double-marker blood test, a non-invasive prenatal test (NIPT) can be done on the mother’s blood from 10th (2.5 months) to 20th (5 months). weeks pregnant, ”Dr. Pai elaborated.

“Trisomy 21 can be detected in the second trimester by doing a test on the mother’s blood called a Quadruple Marker Test in combination with the ultrasound of the baby at 18 weeks pregnant. You can also do a NIPT test on a mother’s blood. If the Dual Marker, NT scan, Quadruple Marker, NIPT is positive, confirmation of Down syndrome is carried out by performing the genetic test by the karyotype method on the tissue obtained by chorionic villus sampling or amniocentesis ”, a-t- he adds.

All the latest genetic tests, including NIPT, are now available from BAUFICI Genetics to detect abnormalities at different levels of pregnancy.

“NGS technologies, including NIPT, are ahead of all other technologies because they deliver high quality genetic information with precision. Next-generation sequencing is designed to use massively parallel strategies to produce large amounts of DNA sequencing, from multiple samples at very high throughput and a high degree of sequence coverage. NGS is also more effective in assessing mosaicism in embryos, after PGTa, ”said Dr Nandita Palshetkar, gynecologist and infertility specialist, Bloom IVF at Fortis GK-2 Hospital in New Delhi and at the Mumbai Lilavati Hospital.

“With genetic defects being a big problem in newborns, a multitude of screening tests are used to map this. After the various screenings, we come to know the root cause, then the treatment is carried out. These are very critical tests to be performed at different stages of pregnancy to detect fetal abnormalities, ”she added.

“It is very encouraging to note that BAUFICI Genetics Laboratories would be able to solve every woman’s problem with genetic disease. With many advancements in the field of reproductive genetics, state-of-the-art facilities such as BAUFICI Genetics Laboratories have been equipped with new technologies to perform next-generation sequencing to put pregnant women at ease. Considering the incidence of Down syndrome and other disorders, India needs many advanced screening laboratories to effectively treat the problem, ”said Dr Palshetkar.

High-tech investigations including extensive carrier screening, preimplantation genetic testing, non-invasive chromosome screening, non-invasive parental testing, fragile X syndrome, Duchenne muscular dystrophy, microdeletion testing, BRCA1 and 2 screening, sperm DNA fragmentation, karyotyping, amniocentesis Double / quadruple marker testing and prenatal ultrasound are some of the prenatal and prenatal tests performed in laboratories to treat genetic abnormalities .

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Posted on: Monday March 22, 2021 13:33 IST


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