Holding her 10-day-old close to her chest, Meenakshi Bhargav (name changed), 26, can't believe her little boy survived the ordeal. Doctors had prepared her for any eventuality, as her newborn was diagnosed with a genetic disease called congenital diaphragmatic hernia (CDH).
The baby was born with a hole in his diaphragm. Instead of being in the abdomen, his intestines had been pushed into the chest cavity making it difficult to breathe. If not operated in time, the baby would have died.
When the obstetrician told the family that the abnormality should have been detected during the pregnancy through an ultrasound, the father rushed to the ultrasound centre where he had got his wife tested. "The radiologist was shocked to learn that my baby had a birth defect," said Bhargav.
Like the Bhargavs, the Mehras too, were, caught off guard when their newborn was diagnosed with Pierre Robin Syndrome (PRS), a genetic disease. The umbilical cord usually has three vessels, but the Mehra's baby girl had two. Her chin was so tiny that the tongue didn't get adequate space inside the mouth and blocked the wind and food pipes.
Experts say it is possible to detect most genetic diseases during pregnancy using non-invasive tests like ultrasound and others like amniocentesis. "There's a protocol for conducting the ultrasound. If one follows that, there's no chance of missing abnormalities," said Dr Ashok Khurana, vice-president, Delhi society of prenatal diagnosis and therapy.
"Advanced ultrasound picks up most congenital defects. But because it is a tool and user dependent test, a good radiologist is a must for accurate diagnosis," said Dr Poonam Sidana, neonatologist at Max hospital, Pitampura.
Agrees Dr IC Verma, director, centre for genetic medicine, Sir Ganga Ram Hospital — "Deformities in a baby's structure can be detected as early as 10 weeks of conception and within 20 weeks a foetus can be screened and tested for most diseases."
Of the 26 billion newborns in India every year, two per cent suffer from some kind of structural, congenital or metabolic abnormality. Today, 75 million kids are being treated for genetic diseases — most could have been detected during pregnancy.
"Ante-natal and neo-natal tests — most are simple blood tests — can detect disorders like down's syndrome or hypo-thyroidism, which can lead to mental handicaps. Early detection is imperative, as cases of down's syndrome in India are as high as one in 1,000," said Dr Seema Kapoor, in-charge genetic lab, Lok Nayak Hospital.
Invasive tests to detect abnormalities in foetus such as chorionic villous sampling (done at 10 to 12 weeks) — placenta sample is collected for chromosomal analysis, or amniocentesis (16-20 weeks) — small amount of amniotic fluid is tested, can cost between Rs 9,000 to Rs 15,000 in private clinics. Due to high costs, the risk of foetal infections and sometimes abortions, doctors don't recommend all tests, unless a woman is in the high-risk category.
"We don't run all scans during a routine prenatal testing. We screen for thyroid, adrenal gland defect and G6PD enzyme deficiency that induces breakdown of red blood cells," said Dr Anurag Krishna, director, institute of paediatrics, Max. "If a woman has a history of genetic disease in the family, is above 35 years of age or the ultrasound detected something suspicious, we recommend further tests," he added.
"It's better to get tests done pre-natally for high-risk cases, as treatment cost in India is very high; sometimes about Rs. six lakh a year," said Dr Verma.
Genetic testing is also gaining popularity as a technique to diagnose rare monogenic genetic disorders or chromosomal disorders. "A lot of defects can be identified using sophisticated equipment," said Dr. A.P. Dubey, head of paediatrics department at Lok Nayak Hospital.