Single Umbilical Artery with Symmetrical IUGR and Multiple Fetal Anomalies - An Interesting Case Report

Abstract

In the present-day scenario, congenital abnormalities and genetic syndromes are increasing due to conceptions in extremes of age groups (teenage pregnancy and elderly primi gravidas), which is about 0.8 to 2.9%. Since our hospital is situated in the periphery, consanguinity persists.

In our tertiary care center, we terminate many cases of abnormal fetuses. Here we are presenting one such interesting case scenario.

In today's world, where women's access to education is continuously improving, societal trends are shifting, and one notable change has been a decline in consanguineous marriages. Consanguineous marriages, or marriages between closely related individuals, have historically been more common in certain cultures, but the increasing level of female education and awareness of the potential genetic risks associated with these unions has led to a noticeable reduction in their occurrence. This is a positive shift, as consanguineous marriages have been linked to a higher risk of genetic disorders in offspring due to the increased likelihood of inheriting recessive genetic conditions.

In tandem with these social changes, advancements in medical technology have significantly improved prenatal care. Fetal medicine specialists now employ a variety of cutting-edge diagnostic tools to identify potential genetic and structural abnormalities in a fetus as early as possible. Among the most notable of these technologies are NIPT (Non-Invasive Prenatal Testing) and the TIFFA (Targeted Imaging for Fetal Anomalies) scan. NIPT is a blood test that analyzes small fragments of fetal DNA circulating in the mother's blood, providing a safe and highly accurate method for detecting chromosomal abnormalities, such as Down syndrome, as early as 10 weeks of pregnancy. Meanwhile, the TIFFA scan is a more advanced ultrasound technique used to identify gross anatomical abnormalities in the fetus, offering detailed insights into the fetal development during the second trimester. These technologies, along with others, have revolutionized prenatal care by enabling early intervention, counselling, and decision-making based on a more accurate understanding of potential risks.

Despite the tremendous progress made in the field of fetal medicine, the detection and prevention of genetic abnormalities are not flawless, and cases of genetic disorders continue to emerge. The present case we are discussing serves as a poignant reminder that, even with the most advanced screening methods available, some conditions may still go undetected or may not be entirely preventable. The case highlights the complexity of genetic inheritance and the limitations of current diagnostic tools, underlining the importance of continued research and development in prenatal care.