Global experts unite at Suraksha Clinic and Diagnostics to decode Next-Gen genetic solutions for reproductive health in India

New Delhi: Suraksha Diagnostic Limited, one of the leading diagnostics chains in Eastern India, conducted an insightful scientific session on ‘Advances in Genetics & Reproductive Health’ with eminent international experts who shared their valuable insights on the evolving landscape of Prenatal, Postnatal, and Preimplantation Genetic Testing.

The programme was attended by Dr. Michael Richardson, Senior Director, APAC, Yourgene Health, who discussed Yourgene Health NIPT and Confirmatory – Testing Development, Dr. Xin Yue Chan, Product Specialist (Reproductive Health), APJ, Thermo Fisher Scientific, who shared his insights on CytoMicroArray Applications in Prenatal and Postnatal Genetic Analysis, Mr. Alain Rico, Sr Product Manager, LSG, Thermo Fisher Scientific, who presented on PGT- A: Current Practices and Future Horizons in Preimplantation Genetic Testing.

Modern diagnostic science has advanced tremendously, with genomics playing a vital role in understanding and detecting genetic abnormalities. Prompt diagnosis helps in the early detection of rare diseases, thereby helping in subsequent treatment planning, medical intervention and reduces financial burden. In India, around 70 million people suffer from rare diseases with nearly 50-70% of rare diseases occuring in children, necessitating early intervention and genetic testing.

As of 2025, the birth rate of India is around 25 million births and one in 850 babies are affected by Down syndrome caused by Trisomy 21, translating to around 30,000 to 40,000 kids being born with Down syndrome every year. Trisomy 13 affects one in every 10,000 to 20,000 newborns globally and leads to Patau syndrome. Trisomy 18 which results in Edwards syndrome, occurs in one out of every 5000 to 6000 live births as per data sources. Prenatal Genetic Testing (NIPT) helps in the identification of the three types of Trisomies and is conducted by taking a blood sample from the mother, analysing cell-free fetal DNA.

Again as per the UNFPA 2025 State of World Population (SOWP) Report, The Real Fertility Crisis, the Total Fertility Rate (TFR) in India has fallen to 1.9, below the replacement level of 2.1, with a population of 146.39 crore (as of April 2025). This translates to the fact that Indian women are having fewer children than required in order to maintain the generational population size.

A number of factors have been attributed to the declining TFR, including increased years of education for girls, improvement in maternal healthcare, greater power in the hands of women for decision-making, wider availability of modernised contraception, delayed marriage, postponing childbirth through IVF, egg freezing, embryo transfer, and other methods.

With families having fewer pregnancies, the demand for Non-Invasive Prenatal Testing (NIPT) and Microarray Testing has increased for detecting genetic disorders, as each family wants to ensure a safe pregnancy and a healthy child. In addition, in IVF, PGT-A enables testing embryos for chromosomal abnormalities prior to implantation, increasing chances of healthy live births.

The requirement for preimplantation genetic screening has increased, specifically among couples who have gone through frequent miscarriages or have existing genetic conditions.

Dr. Michael Richardson, Senior Director, APAC, Yourgene Health shared: “While Non- Invasive Prenatal Testing (NIPT) offers remarkable screening accuracy for common trisomies, it’s essential to remember that it remains a screening tool—not a diagnostic one. False positives can occur due to factors like confined placental mosaicism or maternal genetic variations. Hence, confirmatory testing through techniques such as QF-PCR, karyotyping, or chromosomal microarray remains vital to establish definitive results. Rapid molecular methods today enable clinicians to provide accurate, actionable insights much faster than traditional assays, ensuring better patient counseling and decision-making.”

The Non-Invasive Prenatal Testing market size has reached $ 0.40 billion in the year 2024 and is predicted to reach $1.20 billion by 2033, as per IMARC Group, growing at a CAGR of 11.50% during 2025-2033. Some of the factors responsible for this growth are the increase in maternal age, rising awareness about genetic disorders, emerging healthcare infrastructure, and advancements in prenatal screening technology. A NIPT testing in India currently costs around INR 10,000 to INR 30,000.

Other factors include reduced risks in comparison to invasive procedures, rising disposable incomes, and government initiatives that promote fetal and maternal health.

CytoMicroArray Applications in Pre-Natal and Post-Natal Genetic Analysis detect missing or additional pieces of chromosomes causing developmental or health disorders, genetic disorders that are not visible by standard chromosome tests, in cases when NIPT shows abnormal findings and helps to diagnose children with congenital anomalies, developmental delays, intellectual disabilities, and others. CytoMicroArray tests cost around INR 12,000 to INR 25,000 in India.

“Microarray technology is emerging as a game-changer in reproductive and genetic diagnostics, delivering greater accuracy, speed, and resolution than conventional methods like karyotyping or NIPT. By enabling detailed detection of copy number variations, mosaicisms, and chromosomal abnormalities, microarrays are helping clinicians make faster and more informed decisions in both prenatal and postnatal care, as well as in oncology research” shared Dr. Xin Yue Chan, Product Specialist (Reproductive Health), APJ, Thermo Fisher Scientific.

Preimplantation Genetic Testing for Aneuploidy is a genetic testing method utilised during Assisted Reproductive Treatments such as IVF, for screening embryos before implantation, increasing chances of successful pregnancy, and reducing the risk of miscarriage. In Next Generation Sequencing (NGS), DNA from the cells is analysed for detecting chromosomal abnormalities. PGT tests cost around INR 12,000 to INR 27,000 per embryo in India.

“With infertility affecting one in six people worldwide and rates rising with advanced maternal age, research in pre-implantation genetic testing (PGT) has become crucial. Using next-generation sequencing (NGS), we can now analyze embryos for aneuploidy, structural rearrangements, and monogenic disorders with remarkable precision—often non-invasively. These tools not only enhance IVF outcomes by identifying viable embryos but also minimize errors such as contamination or sample mix-ups. Our SNP-based analyses, developed using diverse populations including Indian genomes, provide powerful insights into genetic risks, carrier status, and embryo quality—helping researchers and clinicians move closer to personalized, effective infertility solutions” shared Mr. Alain Rico, Sr Product Manager, LSG, Thermo Fisher Scientific.

Speaking on the scientific session on ‘Advances in Genetics & Reproductive Health’, Dr. Somnath Chatterjee, Chairman & Joint Managing Director, Suraksha Clinic & Diagnostics, said: “Reproductive genomics has truly transformed the landscape of maternal and fetal healthcare. Suraksha Clinic and Diagnostics serves as a one-stop technology center, combining advanced genomic tools with expert cytogenetic interpretation to ensure the most accurate diagnosis and better reproductive health outcomes.”