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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2020; 07(04): 331-334
DOI: 10.1007/s40556-020-00271-6
Brief Communication

Unusual Presentations of Trisomy 21

Purvi Desai
1   Department of Radiology, New Civil Hospital Surat, Surat, Gujarat, India
,
Kairavi Desai
2   Department of Fetal Medicine, New Civil Hospital Surat, Surat, Gujarat, India
,
Kalpana Kathrotiya
2   Department of Fetal Medicine, New Civil Hospital Surat, Surat, Gujarat, India
,
Keshvi Chauhan
3   New Civil Hospital Surat, Surat, Gujarat, India
,
Binodini Chauhan
2   Department of Fetal Medicine, New Civil Hospital Surat, Surat, Gujarat, India
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Abstract

Trisomy 21 is the most common aneuploidy in liveborn infants. Most of the soft markers for trisomy 21 are non-specific and transient. We present 2 cases which had abnormalities which are very rarely associated with Down’s syndrome. In the first case, the patient had bilateral congenital cataract along with an absent nasal bone. In the second case, the patient had severe asymmetric fetal growth restriction at 20 weeks with other multi-system abnormalities. With detailed ultrasound scanning and thorough investigation, we could diagnose trisomy 21 even with such unusual presentations.

Keywords

Trisomy 21 - Congenital cataract - Severe fetal growth restriction - Down's syndrome - Aneuploidy - Karyotype


Publication History

Received: 01 July 2020

Accepted: 08 September 2020

Article published online:
05 May 2023

© 2020. 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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