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Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome

The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this important area. We investigated reproductive outcomes in a sample of 368 adults with typical 22q11.2 deletions (median age 32.8, range 17.9–76.3 years; 195 females), an...

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Autores principales: Palmer, Lisa D., McManus, Zoë, Heung, Tracy, McAlpine, Grace, Blagojevic, Christina, Corral, Maria, Bassett, Anne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690993/
https://www.ncbi.nlm.nih.gov/pubmed/36421801
http://dx.doi.org/10.3390/genes13112126
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author Palmer, Lisa D.
McManus, Zoë
Heung, Tracy
McAlpine, Grace
Blagojevic, Christina
Corral, Maria
Bassett, Anne S.
author_facet Palmer, Lisa D.
McManus, Zoë
Heung, Tracy
McAlpine, Grace
Blagojevic, Christina
Corral, Maria
Bassett, Anne S.
author_sort Palmer, Lisa D.
collection PubMed
description The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this important area. We investigated reproductive outcomes in a sample of 368 adults with typical 22q11.2 deletions (median age 32.8, range 17.9–76.3 years; 195 females), and without moderate-severe intellectual disability, who were followed prospectively. We examined all reproductive outcomes and possible effects of diagnosis as a transmitting parent on these outcomes. We used logistic regression to investigate factors relevant to reproductive fitness (liveborn offspring). There were 63 (17.1%) individuals with 157 pregnancy outcomes, 94 (60.3%) of which involved live births. Amongst the remainder involving a form of loss, were seven (5.77%) stillbirths, significantly greater than population norms (p < 0.0001). For 35 (55.6%) individuals, diagnosis of 22q11.2 deletion syndrome (22q11.2DS) followed diagnosis of an offspring, with disproportionately fewer individuals had major congenital heart disease (CHD) in that transmitting parent subgroup. The regression model indicated that major CHD, in addition to previously identified factors, was a significant independent predictor of reduced reproductive fitness. There was evidence of persisting diagnostic delay and limited prenatal genetic testing. The findings indicate that pregnancy loss is an important health issue for adults with 22q11.2DS. CHD and/or its absence is a factor to consider in reproductive outcome research. Further studies are warranted to better appreciate factors that may contribute to reproductive outcomes, including technological advances. The results suggest the need for ongoing efforts to provide optimal education and supports to individuals with 22q11.2DS, and their clinicians, around reproductive issues and early diagnosis.
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spelling pubmed-96909932022-11-25 Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome Palmer, Lisa D. McManus, Zoë Heung, Tracy McAlpine, Grace Blagojevic, Christina Corral, Maria Bassett, Anne S. Genes (Basel) Article The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this important area. We investigated reproductive outcomes in a sample of 368 adults with typical 22q11.2 deletions (median age 32.8, range 17.9–76.3 years; 195 females), and without moderate-severe intellectual disability, who were followed prospectively. We examined all reproductive outcomes and possible effects of diagnosis as a transmitting parent on these outcomes. We used logistic regression to investigate factors relevant to reproductive fitness (liveborn offspring). There were 63 (17.1%) individuals with 157 pregnancy outcomes, 94 (60.3%) of which involved live births. Amongst the remainder involving a form of loss, were seven (5.77%) stillbirths, significantly greater than population norms (p < 0.0001). For 35 (55.6%) individuals, diagnosis of 22q11.2 deletion syndrome (22q11.2DS) followed diagnosis of an offspring, with disproportionately fewer individuals had major congenital heart disease (CHD) in that transmitting parent subgroup. The regression model indicated that major CHD, in addition to previously identified factors, was a significant independent predictor of reduced reproductive fitness. There was evidence of persisting diagnostic delay and limited prenatal genetic testing. The findings indicate that pregnancy loss is an important health issue for adults with 22q11.2DS. CHD and/or its absence is a factor to consider in reproductive outcome research. Further studies are warranted to better appreciate factors that may contribute to reproductive outcomes, including technological advances. The results suggest the need for ongoing efforts to provide optimal education and supports to individuals with 22q11.2DS, and their clinicians, around reproductive issues and early diagnosis. MDPI 2022-11-16 /pmc/articles/PMC9690993/ /pubmed/36421801 http://dx.doi.org/10.3390/genes13112126 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Palmer, Lisa D.
McManus, Zoë
Heung, Tracy
McAlpine, Grace
Blagojevic, Christina
Corral, Maria
Bassett, Anne S.
Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title_full Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title_fullStr Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title_full_unstemmed Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title_short Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
title_sort reproductive outcomes in adults with 22q11.2 deletion syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690993/
https://www.ncbi.nlm.nih.gov/pubmed/36421801
http://dx.doi.org/10.3390/genes13112126
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