A Leap of Faith and the Butterfly Effect
When a rare metabolic disease left a young boy fighting for his life, a mother’s trust in doctors from a different state, an ABO-incompatible liver transplant,... Read more.
The Child Who Taught Us Grace
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... Read more.
Decoding Risk in Prenatal Screening for Aneuploidies: From A Priori to Posterior
Understanding how prenatal risk for aneuploidies (especially Trisomy 21) is calculated is crucial for proper interpretation and counseling. This article walks through... Read more.
The Baby Who Couldn’t Kick
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,... Read more.
Galactosemia – Diagnosis, Management, and Genetic Basis 🎥
Galactosemia is a rare inherited metabolic disorder that affects the body’s ability to process galactose. In this video, we break down the genetics, clinical features,... Read more.
Birth Defects Explained: Malformation, Disruption, Deformation, Dysplasia, Sequence, Syndrome & Association
Learn the meaning of malformation, disruption, deformation, dysplasia, sequence, syndrome, and association — the seven key types of congenital anomalies.... Read more.
Diagnosis of Spinal Muscular Atrophy (SMA) Using DraI-based PCR-RFLP
Learn how Spinal Muscular Atrophy (SMA) can be diagnosed using a DraI-based PCR-RFLP technique.... Read more.
The Choice They Made
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... Read more.
Fast, Accurate, and Fluorescent: Using QF-PCR to Decode Sex Chromosome Disorders
Learn how QF-PCR helps detect sex chromosome aneuploidies like Turner syndrome, Klinefelter syndrome, and XYY. This article explains key markers like AMELXY, SRY,... Read more.
When a Diagnosis Is Not the Only Burden
Families of children with rare genetic disorders often face not just medical challenges, but social isolation. This clinic reflection explores how fear of stigma,... Read more.