GeNeViSTA Fetal Dysmorphology: An Indispensable Tool for Synthesis of Perinatal Diagnosis Shagun Aggarwal Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad & Centre for DNA Fingerprinting and Diagnostics, Hyderabad Email:
[email protected] Introduction for pregnancy management as it aids in accurate prognostication and communicating the possibility of intellectual disability and other co-morbidities in Dysmorphology is the science (and art!) of studying such children, helps in decision-making regarding abnormal form, with special emphasis on subtle termination or continuation of pregnancy, facili- ndings which provide clue to an underlying diag- tates appropriate postnatal management and also nosis, mostly a genetic syndrome. It has been the provides recurrence risk estimates for subsequent prime tool of the geneticist enabling a syndromic conceptions. In the postnatal scenario, such a diag- diagnosis on basis of patient’s gestalt with ndings nosis facilitates emotional closure, recurrence risk like a white forelock, heterochromia iridis, broad counseling and early, denitive prenatal diagnosis thumb, asymmetric crying facies and many other in subsequent pregnancies. subtle features acting as decisive tools in the ge- Any morphological or growth abnormality in the netics clinic. Most individuals with dysmorphism fetal life can be an isolated abnormality of multi- are affected with genetic syndromes, which can factorial origin, the consequence of environmental be due to chromosomal abnormalities, copy num- etiologies like a teratogenic insult, intrauterine fac- ber variations or single gene defects. However, tors, maternal illness, etc. or a component of a various environmental factors can also lead to genetic syndrome. In such a scenario, it is impor- dysmorphism, many times mimicking specic ge- tant to be aware of these possibilities, and perform netic syndromes due to involvement of a common a complete dysmorphological evaluation with an biological pathway.