Age is not just alone factor to determine chromosomal abnormalities among pregnant women: Research

Nine (2.48 per cent) women out of 362 were screen positive for chromosomopathy

Redcliffe Labs has come out with an comprehensive research study on prenatal screening for chromosomal anomalies. Led by Dr Sohini Sengupta, Medical Laboratory Director, Redcliffe Labs and a team of esteemed doctors, this collaborative effort took a period of four months and was aimed at addressing the lack of scientific data on antenatal risk assessment among Indian women.

The study was performed on a sample of 362 pregnant women for prenatal screening. Nine (2.48 per cent) women out of 362 were screen positive for chromosomopathy.

The study focused on the significance of Maternal Dual Marker screening during the first trimester to predict the probability of a fetus being born with chromosomal abnormalities such as Down Syndrome, Edward Syndrome, and Patau Syndrome. By utilising hormonal assays, ultrasonography details, maternal and family history, and sophisticated software-based algorithms Ssdwlab version 6.3, the research team identified screen-positive and screen-negative pregnant women, enabling doctors to make informed decisions about the future outcome of the pregnancy.

7.9 million births globally each year have significant birth defects, and 94 per cent of these births take place in middle- and low-income countries, according to the March of Dimes (MOD) world report on birth defects. Birth abnormalities account for 7 per cent of all neonatal mortality and 3.3 million under-five deaths, according to a joint World Health Organization (WHO) and MOD conference report.

Congenital abnormalities are one of the top 10 causes of newborn deaths in India. The prevalence of birth abnormalities in India ranges from 61 to 69.9 per 1000 live births. According to mortality data from India, 16 per cent of all birth defect fatalities among children were under the age of five in 2017. India accounts for 21 per cent of birth defect-related early neonatal mortality cases globally.

Early detection of congenital anomalies during pregnancy can prevent them. Regardless of maternal age or the likelihood of chromosomal abnormality, all pregnant patients should be informed about and given the option of prenatal screening (serum screening with or without NT ultrasound) as well as diagnostic testing (chorionic villus sampling [CVS] or amniocentesis) to determine whether they have a high or low risk of developing an aneuploid foetus with the aid of trisomy screening.

One of the key findings of this study is the importance of a detailed risk assessment using a combination of factors rather than relying solely on maternal age as a risk indicator. While it is widely believed that women above the age of 35 have an increased risk of giving birth to children with chromosomal abnormalities, the research conducted by Redcliffe reveals that age alone may not accurately reflect the true risk. By incorporating high levels of Free Beta HCG, low levels of PAPP-A hormones, high NT values, and the status of the nasal bone, the research team successfully correlated these factors with a higher probability of positive chromosomal anomalies in the fetus.