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

Ground-breaking Research on Prenatal Screening for Chromosomal Anomalies

Redcliffe Labs, a leading omni-channel Pan India diagnostics service provider,     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%) 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 utilizing 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% 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% 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% of all birth defect fatalities among children were under the age of five in 2017. India accounts for 21% 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.

Dheeraj Jain, Founder Redcliffe Labs said, “This focused deep research is published in the International Journal of Reproduction, Contraception, Obstetrics & Gynaecology. This is the first of its kind unique paper in India and being the most populated country on earth with 23 million births last year, unfortunately no scientific data on Antenatal Risk Assessment performed in Indian women is available”

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.

Dr. Sohini Sengupta, the lead researcher, expressed her excitement about the research findings, stating, “This study is unique because it fills a critical knowledge gap in antenatal risk assessment in Indian women. By collaborating with Roche Diagnostics India to utilise their advanced diagnostic instrument the cobas^® 8000,  and Elecsys^® PAPP-A & Elecsys^®  free βhCG, we were able to obtain accurate data and generate valuable insights. We believe that this research will contribute to improved medical decision-making and patient outcomes across all genres.”

Dr. Sandeep Sewlikar, Head – Medical, Scientific and Regulatory Affairs, Roche Diagnostics India      commented, “We are committed to ensuring that women benefit from tailored and equitable healthcare programmes across all stages of their life. We are therefore constantly working towards advancing diagnostic tools through research and innovation to enable better clinical decision. Our collaboration with Redcliffe and Dr. Sohini highlights our commitment to improving patient outcomes in the field of prenatal care. We are pleased to have contributed our advanced technologies to this research, which has the potential to make a significant impact on the lives of women and their unborn children.”

This pioneering research work at Redcliffe, on prenatal screening for chromosomal anomalies conducted by Dr. Sohini and her team, signifies a major step forward in the field of prenatal care. The study’s findings have the potential to positively impact the lives of countless women and their unborn children, empowering healthcare professionals with critical information for informed decision-making.

Elecsys & cobas are trademarks of Roche Diagnostics.