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Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia

The occurrence of fetuses suspected of having ambiguous genitalia will likely increase in the future. Currently, the impact of prenatal genetic counseling on parents' understanding and psychological preparedness has not been addressed. We provided prenatal genetic counseling to parents of two f...

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Autores principales: Sato, Takeshi, Ishii, Tomohiro, Yamaguchi, Yu, Ichihashi, Yosuke, Ochiai, Daigo, Asanuma, Hiroshi, Kuroda, Tatsuo, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838588/
https://www.ncbi.nlm.nih.gov/pubmed/33520882
http://dx.doi.org/10.3389/fped.2020.569548
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author Sato, Takeshi
Ishii, Tomohiro
Yamaguchi, Yu
Ichihashi, Yosuke
Ochiai, Daigo
Asanuma, Hiroshi
Kuroda, Tatsuo
Hasegawa, Tomonobu
author_facet Sato, Takeshi
Ishii, Tomohiro
Yamaguchi, Yu
Ichihashi, Yosuke
Ochiai, Daigo
Asanuma, Hiroshi
Kuroda, Tatsuo
Hasegawa, Tomonobu
author_sort Sato, Takeshi
collection PubMed
description The occurrence of fetuses suspected of having ambiguous genitalia will likely increase in the future. Currently, the impact of prenatal genetic counseling on parents' understanding and psychological preparedness has not been addressed. We provided prenatal genetic counseling to parents of two fetuses suspected of ambiguous genitalia. Case 1: At 22 weeks of gestation, swelling of the labia majora, and a clitoris-like structure were noted despite 46,XY detected in amniotic fluid cells. Case 2: At 28 weeks of gestation, bladder exstrophy and a scrotum-like structure were noted. At 32 weeks (Case 1) and 37 weeks (Case 2) of gestation, we shared information with parents regarding the possible difficulty of legal sex assignment at birth, and a scenario for registration of the birth certificate. At birth, both babies presented with ambiguous genitalia. For both cases, the parents remained calm on seeing their baby's genitalia for the first time. After a month, we shared medical information with parents, including karyotype, testosterone production capacity, and surgical schedule. In both cases parents assigned their respective baby's legal sex as male. Several months later, parents were questioned on prenatal genetic counseling. Case 1: Mother, “I was prepared to address our baby's genitalia calmly.” Father, “I understood the procedure of legal sex assignment.” Case 2: Mother, “Without counseling, I would have been more upset and worried.” Father, “We were assured that multidisciplinary experts would support us.” Prenatal genetic counseling provides reassurance to parents, who remain informed and emotionally secure throughout the legal sex assignment of their child.
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spelling pubmed-78385882021-01-28 Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia Sato, Takeshi Ishii, Tomohiro Yamaguchi, Yu Ichihashi, Yosuke Ochiai, Daigo Asanuma, Hiroshi Kuroda, Tatsuo Hasegawa, Tomonobu Front Pediatr Pediatrics The occurrence of fetuses suspected of having ambiguous genitalia will likely increase in the future. Currently, the impact of prenatal genetic counseling on parents' understanding and psychological preparedness has not been addressed. We provided prenatal genetic counseling to parents of two fetuses suspected of ambiguous genitalia. Case 1: At 22 weeks of gestation, swelling of the labia majora, and a clitoris-like structure were noted despite 46,XY detected in amniotic fluid cells. Case 2: At 28 weeks of gestation, bladder exstrophy and a scrotum-like structure were noted. At 32 weeks (Case 1) and 37 weeks (Case 2) of gestation, we shared information with parents regarding the possible difficulty of legal sex assignment at birth, and a scenario for registration of the birth certificate. At birth, both babies presented with ambiguous genitalia. For both cases, the parents remained calm on seeing their baby's genitalia for the first time. After a month, we shared medical information with parents, including karyotype, testosterone production capacity, and surgical schedule. In both cases parents assigned their respective baby's legal sex as male. Several months later, parents were questioned on prenatal genetic counseling. Case 1: Mother, “I was prepared to address our baby's genitalia calmly.” Father, “I understood the procedure of legal sex assignment.” Case 2: Mother, “Without counseling, I would have been more upset and worried.” Father, “We were assured that multidisciplinary experts would support us.” Prenatal genetic counseling provides reassurance to parents, who remain informed and emotionally secure throughout the legal sex assignment of their child. Frontiers Media S.A. 2021-01-13 /pmc/articles/PMC7838588/ /pubmed/33520882 http://dx.doi.org/10.3389/fped.2020.569548 Text en Copyright © 2021 Sato, Ishii, Yamaguchi, Ichihashi, Ochiai, Asanuma, Kuroda and Hasegawa. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Sato, Takeshi
Ishii, Tomohiro
Yamaguchi, Yu
Ichihashi, Yosuke
Ochiai, Daigo
Asanuma, Hiroshi
Kuroda, Tatsuo
Hasegawa, Tomonobu
Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title_full Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title_fullStr Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title_full_unstemmed Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title_short Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
title_sort case report: prenatal genetic counseling to parents of fetuses suspected of having ambiguous genitalia
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7838588/
https://www.ncbi.nlm.nih.gov/pubmed/33520882
http://dx.doi.org/10.3389/fped.2020.569548
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