HYDERABAD: The recent death of a week-old baby in the US’s Wisconsin has triggered a debate about the importance of neonatal and prenatal screening. The baby boy died of a metabolic disease that could have been treated had the baby’s screening results reached the doctors’ hands in time. Neonatal (newborn baby) and prenatal (fetal) screening are a mandate in most countries across the world, but not in India yet. Doctors in the city talk about the urgency and the necessity of the practice.
Dr Kanchan S Channawar, senior pediatrician and pediatric intensivist at Kamineni Hospitals, LB Nagar explains the tests saying, “Prenatal screening is a way of detecting the chance of a baby having genetic syndromes. These are the tests done during pregnancy to anticipate the risk of a baby being born with anomalies, whereas neonatal screening is done after delivery in the newborn to detect various genetic, metabolic, haematological as well as endocrine diseases.” Prenatal screening includes blood tests, a specific type of ultrasound and other amniotic fluid analysis, if needed.
“These tests, though are not confirmative, can predict the increased risk for genetic disease. There are tests done in the first trimester like the nuchal translucency scan, and double marker tests and in second-trimester tests like triple and quadruple markers are done. Neonatal screening can be done using a cord blood sample or neonatal capillary blood by heel prick after 72 hours of birth. In extended screening, urine sample is also collected for analysis,” Dr Kanchan tells CE.
The main goal of these screening tests, she says, is the presymptomatic detection of infants with congenital conditions so that treatment can be initiated as early as possible to prevent or ameliorate the consequences of the disease. Though these screening tests are done on a compulsory note in western countries, India is presently going through a progressive transitional phase. Dr Kanchan says,
“A practical approach is being followed where categorical screening is done which includes screening for all newborns and screening for highrisk group infants. The Indian academy of Paediatrics strongly recommends newbor n screening for all babies to diagnose and treat early. This practice has to be incorporated into every newborn delivery to reduce mortality and morbidity later.” Many a time, babies might have certain rare genetic and metabolic conditions which do not manifest at birth. If not detected early, these conditions can lead to impairment of a baby’s physical and mental development.
“The baby might look completely healthy at birth and the symptoms may develop a few weeks to months later. Newborn screening is a simple test using only a few drops of a baby’s blood after 48 hours of life. This single test can detect more than 50 conditions at once even before the baby can become symptomatic, helping us to start the treatment early and prevent the baby from becoming sick,” shares Dr Sowjanya, consultant neonatologist at Fernandez Hospital, Bogulkunta. Dr M Rajini, consultant gynecologist, Care Hospitals, Banjara Hills, goes to the extent of saying that it all starts with pre-pregnancy health checkups.
“Women of childbearing age have regular weight checks, consume a calcium-rich diet and have green leafy vegetables for adequate folic acid. If they are overweight, a dietician’s help should be taken for a healthy balanced diet. A prepregnancy health check is very successful for lifestyle modifi- T cations as first, women appear especially willing to modify their behaviour during these periods to benefit their children. Second, since pregnant women and infants receive frequent routine medical care, interventions involving improved health care delivery have great potential.
Third, these periods are relatively brief, and we know that behavior-change interventions are typically most successful in the short term. Fourth, if effective interventions begun during pregnancy are maintained after birth, they will reduce the risk of maternal obesity for future pregnancies and thus help to interrupt the intergenerational cycle,” the doctor concludes.
Safety first
Important tests included in newborn screening:
1. Phenylketonuria
2. Congenital hypothyroidism
3. Galactosemia
4. Cystic fibrosis
5. G6PD deficiency
6. Congenital adrenal hyperplasia
7. Hemoglobinopathies
8. Metabolic diseases