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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(01): 040-045
DOI: 10.1055/s-0043-57039
Case Report

Enlarged Intracranial Translucency, as a Potential Marker for Diagnosis of Joubert Syndrome during First-Trimester Screening: A Case Report

Heena Verma
1   Fellow in Fetal medicine at Gynob Sonoscan center, Dev ART IVF-Test Tube Baby Center and Shachi Women's hospital, Ahmedabad, Gujarat
,
B I. Patel
2   Fetal Medicine expert at Gynob Sonoscan center, Dev ART IVF-Test Tube Baby Center and Shachi Women's hospital, Ahmedabad, Gujarat
,
Nisha S. Patel
3   Infertility & IVF specialist at Gynob Sonoscan center, Dev ART IVF-Test Tube Baby Center, Shachi Women's hospital, Ahmedabad, Gujarat
,
Saumil B. Patel
4   Endoscopic Gynaecologist at Gynob Sonoscan center, Shachi Women's hospital, Ahmedabad, Gujarat
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Abstract

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder that is usually diagnosed late in pregnancy or postnatally based on a pathognomonic midbrain–hindbrain malformation seen on magnetic resonance imaging brain, which consists of the hypoplasia of the cerebellar vermis, thickened superior cerebellar peduncles, and a deepened interpeduncular fossa described as molar tooth sign. The recurrence rate of JS in the same family is high (25%). In the era of first-trimester anomaly scan, early diagnosis of fetal anomaly is of utmost importance. First-trimester screening or first-trimester scan that is performed from 11 to 13 weeks, 6 days plays an important role in early diagnosis of posterior fossa abnormalities like Blake's pouch cyst, Vermian hypoplasia, Dandy-Walker malformation, and JS and related disorders based on increased intracranial translucency thickness. Our case also shows that early diagnosis of JS can be done by an enlarged intracranial translucency.

Keywords

enlarged intracranial translucency - fetal anomaly - first-trimester screening - intracranial translucency - Joubert syndrome

Competing Interest

Authors are required to disclose financial or nonfinancial interests that are directly or indirectly related to the work submitted for publication




Publication History

Article published online:
16 May 2023

© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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