Screening of high risk pregnant women to check high incidence of birth defects, gene anomalies

By Syed Akbar
Hyderabad, Sept 3: City geneticists are examining hundreds of "high
risk pregnant women" in a bid to bring down the high incidence of
birth defects and diseases related to gene anomalies.

The Central government has selected the city-based Institute of
Genetics and Hospital for Genetic Diseases, Osmania University, to
test high risk pregnant women so that they stand to benefit from the
advances in prenatal diagnosis of birth defects and new born screening.

"Every family looks forward to a healthy pregnancy and to the birth of
a healthy newborn. Pregnancy follows a fairly routine course for a
vast majority of women. But, for some, there may be unexpected
difficulties and challenges along the way with a high-risk pregnancy.
A pregnancy is "high risk" or "complicated" when the life or health of
the mother or baby may be at risk," said Prof A Jyothy, head of the
Institute of Genetics.

According to her, the criteria of pregnant women for high risk
pregnancy are advanced maternal age, previous child with a de novo
chromosome abnormality, presence of structural chromosome abnormality
in one of the parents, family history of some genetic defect, multiple
pregnancies, previous miscarriages, exposure to microbial infections
and teratogens (any agent that cause birth defect).

High risk pregnancy requires exemplary individualised care and special
attention as this group is responsible for maximum perinatal mortality
and morbidity. Despite recent advances in maternal and neonatal care
in India, perinatal mortality is still very high i.e., 46 per 1000
live births compared to 5-10 per 1000 live births in developed
countries.

The strategy includes analysis of blood biochemical markers, serial
ultrasound examination, amniocentesis and foetal monitoring. These
tests are designed to track the condition of the foetus and detect
complications.

The genetic and metabolic disorders are emerging as a major group of
disorders that are responsible for the present morbidity and mortality
among the children. "Considering the ethnic diversity and practice of
consanguineous marriage in our State there is an increased incidence
of inherited metabolic disorders. Thus, mass screening will be useful
to detect undiagnosed cases," she added.