E-mail ID : info@iamg.in
 
 
 
 

Online Submission
Click Here For Online Submission
Instructions for authors

Genetic Clinics
Editorial board

Get Our Newsletter
Subscribe

Send Your Feedback
Feedback Form

About Us
IAMG

Abstract

April - June 2024 | Vol. 17 | Issue 2 | 05-07
Midgut Volvulus in Trisomy 21: Unveiled on Fetal Autopsy
Somya Srivastava, Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Science, Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
Midgut volvulus is a rare developmental anomaly with a largely unknown etiology that is challenging to diagnose antenatally in the second trimester. The objective of this case report is to describe a rare case of midgut volvulus associated with trisomy 21. Amniocentesis was done in a 19-week fetus with severe ventriculomegaly, hypoplastic cerebellum, echogenic bowel, and growth restriction to rule out chromosomal anomalies. The couple opted to terminate the pregnancy in view of the severity of the anomalies. The fetal autopsy revealed a characteristic whirlpool appearance of midgut volvulus, and the karyotype was suggestive of trisomy 21. This is the second reported case of midgut volvulus associated with trisomy 21 where ultrasound was not specific for this anomaly and the gut loops were coiled in a distinctive whirlpool pattern detected incidentally on fetal autopsy.
 
HTML Full Text  Download PDF