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Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple
Non‐immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichori...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447878/ https://www.ncbi.nlm.nih.gov/pubmed/37637203 http://dx.doi.org/10.1002/ccr3.7827 |
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author | Al Harthy, Talib Colaiacovo, Samantha Gratton, Robert J. Coughlin, Kevin Siu, Victoria Mok Prasad, Chitra Rupar, Charles Saleh, Maha |
author_facet | Al Harthy, Talib Colaiacovo, Samantha Gratton, Robert J. Coughlin, Kevin Siu, Victoria Mok Prasad, Chitra Rupar, Charles Saleh, Maha |
author_sort | Al Harthy, Talib |
collection | PubMed |
description | Non‐immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichorionic diamniotic pregnancy for a consanguineous couple where noninvasive prenatal testing was “high risk” for Trisomy 21. Family declined amniocentesis and opted for postnatal genetic testing. The pregnancy was later complicated with severe hydrops fetalis leading to demise for one of the twins, and a premature delivery of the other twin who had remarkable collodion not in keeping with Trisomy 21. Postnatal genetic investigations confirmed both Trisomy 21 and prenatal lethal Gaucher disease in the survivor twin. This case report highlights some of the prenatal diagnostic challenges for a consanguineous couple where a rare cause of fetal hydrops was concealed in a setting of a common chromosomal aneuploidy. The prompt postnatal diagnosis of perinatal lethal Gaucher disease, confirmed with undetectable glucocerebrosidase enzyme activity, assisted the family in the decision of providing palliative care for their infant who was quickly deteriorating. The importance of postnatal genetic evaluation and its impact on immediate patient management in an NICU setting is emphasized. This dual diagnosis was significant for the couple as it explained pervious pregnancy losses and has important future recurrence risk implications. |
format | Online Article Text |
id | pubmed-10447878 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-104478782023-08-25 Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple Al Harthy, Talib Colaiacovo, Samantha Gratton, Robert J. Coughlin, Kevin Siu, Victoria Mok Prasad, Chitra Rupar, Charles Saleh, Maha Clin Case Rep Case Report Non‐immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichorionic diamniotic pregnancy for a consanguineous couple where noninvasive prenatal testing was “high risk” for Trisomy 21. Family declined amniocentesis and opted for postnatal genetic testing. The pregnancy was later complicated with severe hydrops fetalis leading to demise for one of the twins, and a premature delivery of the other twin who had remarkable collodion not in keeping with Trisomy 21. Postnatal genetic investigations confirmed both Trisomy 21 and prenatal lethal Gaucher disease in the survivor twin. This case report highlights some of the prenatal diagnostic challenges for a consanguineous couple where a rare cause of fetal hydrops was concealed in a setting of a common chromosomal aneuploidy. The prompt postnatal diagnosis of perinatal lethal Gaucher disease, confirmed with undetectable glucocerebrosidase enzyme activity, assisted the family in the decision of providing palliative care for their infant who was quickly deteriorating. The importance of postnatal genetic evaluation and its impact on immediate patient management in an NICU setting is emphasized. This dual diagnosis was significant for the couple as it explained pervious pregnancy losses and has important future recurrence risk implications. John Wiley and Sons Inc. 2023-08-23 /pmc/articles/PMC10447878/ /pubmed/37637203 http://dx.doi.org/10.1002/ccr3.7827 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Al Harthy, Talib Colaiacovo, Samantha Gratton, Robert J. Coughlin, Kevin Siu, Victoria Mok Prasad, Chitra Rupar, Charles Saleh, Maha Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title | Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title_full | Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title_fullStr | Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title_full_unstemmed | Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title_short | Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
title_sort | dual diagnosis of trisomy 21 and lethal perinatal gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447878/ https://www.ncbi.nlm.nih.gov/pubmed/37637203 http://dx.doi.org/10.1002/ccr3.7827 |
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