Did u Know

Different genetic tests have different limitation and strengths. Some families may arrive at a diagnosis on the first go, while some answers may remain elusive despite exhaustive tests
New age genetic tests sometimes throw up ‘uncertain’ results. These could be true answers to the problem, or mere distractors
Duchenne muscular dystrophy is the most common form of muscular dystrophy. It affects nearly 1:3500 livebirths.
As per a recent study by Chopra et al (2022); one in four cases of cerebral palsy can be attributed to known monogenic errors. This underlines the importance of not labelling all cerebral palsies, as a result of ‘perinatal asphyxia’ alone. In the study quoted above, even in the children who had an obvious perinatal insult, or a clear ‘external’ factor responsible for cerebral palsy; 15% of them had an underlying genetic predisposition/ genetic error identified.
A recent study (PMC7607710) implementing the expanded carrier screening on 200 asymptomatic Indians, found that 26% of the participants were carriers for one or more diseases. Carriers for autosomal recessive diseases are usually asymptomatic
1:38 individuals from India are estimated to be a carrier for spinal muscular atrophy. Spinal muscular atrophy is the most common fatal inherited disease in infants.
The common mutations causing most genetic diseases in the Indian population, are different and unique from the Western population
Certain genetic diseases can present first in adulthood. Some examples include Huntington chorea, spinocerebellar ataxia, adulthood onset forms of Nieman Pick disease and Gaucher disease, GNE myopathy, certain mitochondrial diseases, non syndromic hearing loss, certain forms of retinitis pigmentosa; to name a few.
Dual marker and quadruple marker tests can miss detecting 15-18% of the cases of Down syndrome, antenatally.
New guidelines from the American College of Obstetricians and Gynecologists (ACOG) recommend Non-Invasive Prenatal Testing (NIPT) be made available to all pregnant women, regardless of maternal age or baseline risk.
Around 50 percent of the congenital cataracts have a genetic cause
About 80 percent of the prelingual hearing loss is due to a genetic cause.
1 in 70 women have a lifetime risk of developing ovarian cancer. One fourth of these women have a hereditary predisposition to develop ovarian cancer
American College of obstetrics and Gynaecologists (ACOG) recommends offering carrier screening to ALL women who are pregnant or considering pregnancy to screen for the following disorders: cystic fibrosis, hemoglobinopathies, spinal muscular atrophy
7 of every 100 live births in India have a serious congenital birth defect, which is directly or partially related to errors in the normal genetic expression. the global incidence of genetic diseases (7.94%) to the mammoth Indian population (1.2 billion) and its explosive birth rate, we have one baby with genetic disease being born every third minute in our country.
The estimated Indian burden of people suffering from genetic disorders can be pegged to be somewhere around 17 lakh; a likely underestimation.
In a recent collaborative genetic study with India, Dr Reich, an eminent geneticist from Harvard, concluded that the scope of genetic diseases in South Asia, including India, is probably more than anywhere else in the world.
Genetic diseases are omnipresent in nature. They can present at any age, some presenting for the first time in the late adulthood. They can present to any medical specialist or super-specialist, sometimes evident in their nature; most of the times, disguised.
20% of the infertile males carry constitutional chromosomal abnormalities