Genetic Clinics
GeNeDit
July - September 2022| Vol 15 | Issue 3 | Page No 01
Emotional Burden of Prenatal Screening
Prevention of disorders with significant morbidity and mortality, by prenatal diagnosis, is an acceptable option for most families. It is a boon for families who already have or had a patient with such a disorder and are anxious about the possibility of recurrence. Primary prevention
PhotoQuiz-57
July - September 2022| Vol 15 | Issue 3 | Cover Page
This patient was referred for evaluation of short stature, dysmorphic features and skeletal anomalies...
Dr Prajnya Ranganath
GeNeMail
July - September 2022| Vol 15 | Issue 3 | 02
The Crafoord days, April 2022
Dear Editor, We are all quite familiar with the prestigious Nobel Prizes given annually to honor individuals who have 'conferred the greatest benefit to humankind'. The Crafoord prize is yet another equally prestigious annual science...
Dhanya Lakshmi N
Clinical Vignette
July - September 2022| Vol 15 | Issue 3 | Page No 03
A Clinical Report and Further Delineation of the Proximal 8p Deletion - Associated Phenotype
Chromosomal abnormalities are the most common cause of unexplained developmental delay (DD), autism, intellectual disability (ID) and multiple congenital anomalies (MCA). Proximal interstitial deletion of 8p is very rare, and only a few reports have been published till...
Neha Agrawal, Shubha R Phadke
GeNeViSTA
July - September 2022| Vol 15 | Issue 3 | Page No 08
Variant of Uncertain Significance Identified in Exome Sequencing: What Next?
Next-generation sequencing (NGS) has revolutionized the field of medicine, providing better tools for the diagnosis of genetic diseases. However, it has also thrown up new challenges like reporting of variants of uncertain significance (VUSs). All clinicians who order for a test...
Ashwin Dalal
GeNeXprESS
July - September 2022| Vol 15 | Issue 3 | Page No 12
Non-Invasive Prenatal Testing (NIPT) – Utility Beyond Aneuploidies
This is the largest cohort study in clinical practice, which aimed to assess the performance of NIPT in 2208 women with singleton pregnancies, using a next generation sequencing (NGS) – based panel of 30 genes causing 25 clinically significant dominant single-gene...
Maitri Jain
GeneFocus
July - September 2022| Vol 15 | Issue 3 | Page No 14
Gregor Mendel: The 200-Year-Old Monk
Who does not know Gregor Mendel, the Austrian Monk of the 19th century? Every day when we look at patients with monogenic disorders and discuss risks of recurrence, we see Mendel's principles of heredity being followed. As medical...
Shubha R Phadke
