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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)...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2021
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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. |
format | Online Article Text |
id | pubmed-8383697 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elmer Press |
record_format | MEDLINE/PubMed |
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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