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A powerful reflection on a boy misunderstood as cursed, later revealed to have a rare genetic condition. This story traces one relative's journey from fear to understanding, and how it led to a career in medical genetics. Read More
Learn how RFLP and STR-based polymorphic markers are used in genetic diagnostics. Explore real-world applications like sickle cell testing and maternal cell contamination detection, and why older techniques like RFLP still hold value today. Read More
A heartfelt reflection on a young girl with Down syndrome who succumbed to atlanto-axial dislocation, and the unwavering love of her parents who stood by her till the end—reminding us of the quiet strength some families carry, even in loss. Read More
Understanding how prenatal risk for aneuploidies (especially Trisomy 21) is calculated is crucial for proper interpretation and counseling. This article walks through the stepwise risk estimation process, starting from maternal age, incorporating first-trimester combined screening, ultrasound soft markers, and finally, non-invasive prenatal testing (NIPT). It’s backed with formulas and real clinical examples. A Priori Risk... Read More
A deeply moving real-life story of a child diagnosed with Spinal Muscular Atrophy (SMA), tracing the family's journey through diagnosis, helplessness, and loss, while reflecting on the harsh reality that treatment exists but remains out of reach for most. Read More
Learn the meaning of malformation, disruption, deformation, dysplasia, sequence, syndrome, and association — the seven key types of congenital anomalies. Read More
Learn how Spinal Muscular Atrophy (SMA) can be diagnosed using a DraI-based PCR-RFLP technique. Read More
After a prenatal diagnosis of Edwards syndrome, a couple chose to continue the pregnancy, not out of denial, but shaped by years of infertility, IVF, and subtle societal humiliation. Read More
Learn how QF-PCR helps detect sex chromosome aneuploidies like Turner syndrome, Klinefelter syndrome, and XYY. This article explains key markers like AMELXY, SRY, T1, T3, and X-STRs in simple terms with a focus on clinical interpretation. Read More