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A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16

Hemoglobin (Hb) Bart’s hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart’s hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV)...

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Autores principales: Tan, Yin Ru, Tan, Hak Koon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383697/
https://www.ncbi.nlm.nih.gov/pubmed/34434471
http://dx.doi.org/10.14740/jmc3693
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author Tan, Yin Ru
Tan, Hak Koon
author_facet Tan, Yin Ru
Tan, Hak Koon
author_sort Tan, Yin Ru
collection PubMed
description Hemoglobin (Hb) Bart’s hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart’s hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal. The fetus was found to have a thickened nuchal translucency during first trimester screening for Down’s syndrome. Mid-trimester fetal anomaly ultrasound scan showed fetal cardiomegaly with pericardial effusion, scalp edema, ascites and an elevated middle cerebral arterial peak systolic velocity (MCA PSV). Multiplex polymerase chain reaction (PCR) on DNA from amniocentesis showed that the fetus was homozygous for South East Asian (SEA) type 2 α-globin gene deletion. Chromosome microarray (CMA) showed two regions of absence of heterozygosity (AOH) on the terminal p and q arm of chromosome 16. The rare occurrence of Hb Bart’s hydrops fetalis caused by maternal uniparental disomy should be considered in cases of fetal hydrops even in cases where paternal MCV is normal.
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spelling pubmed-83836972021-08-24 A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16 Tan, Yin Ru Tan, Hak Koon J Med Cases Case Report Hemoglobin (Hb) Bart’s hydrops fetalis is the most severe form of α-thalassemia and is usually inherited in an autosomal recessive manner. We report a case of Hb Bart’s hydrops fetalis due to uniparental disomy of chromosome 16. Antenatal screening showed a low maternal mean corpuscular volume (MCV), while paternal MCV was normal. The fetus was found to have a thickened nuchal translucency during first trimester screening for Down’s syndrome. Mid-trimester fetal anomaly ultrasound scan showed fetal cardiomegaly with pericardial effusion, scalp edema, ascites and an elevated middle cerebral arterial peak systolic velocity (MCA PSV). Multiplex polymerase chain reaction (PCR) on DNA from amniocentesis showed that the fetus was homozygous for South East Asian (SEA) type 2 α-globin gene deletion. Chromosome microarray (CMA) showed two regions of absence of heterozygosity (AOH) on the terminal p and q arm of chromosome 16. The rare occurrence of Hb Bart’s hydrops fetalis caused by maternal uniparental disomy should be considered in cases of fetal hydrops even in cases where paternal MCV is normal. Elmer Press 2021-07 2021-05-13 /pmc/articles/PMC8383697/ /pubmed/34434471 http://dx.doi.org/10.14740/jmc3693 Text en Copyright 2021, Tan et al. https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Tan, Yin Ru
Tan, Hak Koon
A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title_full A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title_fullStr A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title_full_unstemmed A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title_short A Rare Case of Hemoglobin Bart’s Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
title_sort rare case of hemoglobin bart’s hydrops fetalis due to uniparental disomy of chromosome 16
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383697/
https://www.ncbi.nlm.nih.gov/pubmed/34434471
http://dx.doi.org/10.14740/jmc3693
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