Lab to find newborn's genetic defects in India

[Narendra]

Lab to find newborn's genetic defects

http://timesofindia.indiatimes.com/H...ow/3456528.cms

NEW DELHI: A first of its kind laboratory to diagnose genetic disorders in newborns was recently started at Lok Nayak Hospital. Doctors say that nearly 400 different genetic defects in newborns can be diagnosed at this genetic lab with just a few drops of their blood.

The genetic lab, inaugurated in August, has started screening newborns who showed signs of certain abnormal clinical conditions.

According to Dr Swaraj Batra, medical superintendent, Lok Nayak Hospital, this is a unique initiative by the Delhi government as there are a very few number of clinical genetic centres in the government set-up. ‘‘This new laboratory will help doctors and families in managing and providing better treatment to babies born with genetic defects. At present, this facility is available free of cost,’’ said Dr Anjan Prakash, spokesperson, Lok Nayak Hospital.

There are four types of genetic testing: molecular, cytogenetics, clinical genetics and biochemical genetics. Dr Seema Kapoor, associate professor, paediatrics and in-charge of the genetic lab at Lok Nayak Hospital said: ‘‘In biochemical genetic testing, we study proteins, fats, carbohydrates and lipid structures and look for defects in their constitution.

"In this branch of genetics, we study body metabolism at a very basic level. Proteins, fats, lipids and carbohydrates are the building blocks, and any defect in these can result in congenital metabolic disorders in babies. This is also known as an in-born error of metabolism.’’ Dr Kapoor added, ‘‘We take the blood samples of newborns after 72 hours of their birth and then screen for various metabolic disorders.’’

At present, the genetic lab is screening newborns for two important and common genetic conditions: G6PD (Glucose-6-phosphate dehydrogenase deficiency) and galactosemia. G6PD, commonly observed in north Indians, is caused due to deficiency of a particular enzyme that can disturb the functioning of red blood cells in the body.

The hospital is also planning to start genetic testing of pregnant mothers and foetuses.

India catching up with the rest of the world on Clinical Genetic Center. Good news for those wanting to get genetic testing done.

[vamanjani]

Narendra,
It is good to know that genetic blood testing lab is established at L.N.Hospital wit the drive and initiative of Dr. Kapoor who is a dynamic lady doctor.
I for one, would always prefer a CVF of high risk pregnant ladies for their fetus within 12 weeks of their gestation period. This will definitely help curtail the birth of new thalassaemics.
Anyway, they know their job well and they are all enlightened people understanding seriousness of problem. So, well begining is half done.
Let us pray that all works out well.
God bless and keep contributing.