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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...

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Autores principales: Al Harthy, Talib, Colaiacovo, Samantha, Gratton, Robert J., Coughlin, Kevin, Siu, Victoria Mok, Prasad, Chitra, Rupar, Charles, Saleh, Maha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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.
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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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