National Birth Defects Awareness Month, observed every January, highlights the importance of early detection and preventive measures in mitigating the risk of congenital defects. Chromosomal abnormalities rank among the primary contributors to birth defects.

In a discussion with Lifestyle, Dr Ritu Hinduja, a Fertility Specialist at Nova IVF Fertility in Mumbai, stated, “These anomalies, resulting from changes in the number or structure of chromosomes, can lead to miscarriage, infertility, or congenital conditions such as Down syndrome, Edwards syndrome, and Patau syndrome. Preimplantation Genetic Testing for Aneuploidies (PGT-A) is an innovative reproductive technology that offers hope to couples aiming to minimize these risks.”

Understanding chromosomal abnormalities

Dr. Ritu Hinduja stated, “Chromosomal abnormalities occur when there is an addition or deletion of one or more chromosomes (numerical abnormalities), or when there are alterations in the structure of chromosomes. These errors can take place during cell division, whether in the development of eggs and sperm or during the initial stages of embryonic development.”

She explained that prevalent chromosomal abnormalities include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome), all of which are associated with developmental delays, physical disabilities, and a higher risk of infant mortality. Furthermore, sex chromosomal disorders such as Turner syndrome and Klinefelter syndrome can influence both physical and reproductive development. Although certain defects are passed down through generations, many occur sporadically and are often linked to the advancing age of parents.

The role of PGT-A in preventing birth defects

Dr Ritu Hinduja stated, "PGT-A is an innovative assisted reproductive technology that assesses embryos for chromosomal irregularities before implantation. This procedure is integrated into an in vitro fertilization (IVF) cycle, where a small number of cells are analyzed from an embryo to verify the appropriate chromosomal count. By identifying embryos with normal chromosomal configurations (euploid embryos), fertility specialists can select those that minimize the likelihood of miscarriage and congenital issues, thereby enhancing the chances of a successful pregnancy."

She remarked that one of the key benefits of PGT-A is its ability to enhance the success rates of IVF procedures. The transfer of genetically viable embryos significantly boosts the chances of successful implantation and live births, thereby alleviating the emotional and financial burdens associated with multiple IVF attempts. This technology is particularly beneficial for women over 35, as advanced maternal age is often associated with chromosomal abnormalities due to declining egg quality. For those with a history of chromosomal issues, PGT-A offers reassurance by identifying embryos that are free from genetic defects. This empowers couples to make well-informed choices regarding their reproductive options, fostering greater confidence and control over their family planning process.

National Birth Defects Awareness Month highlights the importance of education, prevention, and early intervention in reducing the incidence of congenital defects. Dr Ritu Hinduja concluded by stating that advancements such as PGT-A present new possibilities for couples aiming to minimize the risk of chromosomal abnormalities and birth defects. By integrating state-of-the-art science with compassionate care, we can assist families in nurturing hope and building healthy futures.

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