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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| Format: | Article |
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Frontiers Media S.A.
2021-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2020.569548/full |
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| author | Takeshi Sato Takeshi Sato Tomohiro Ishii Tomohiro Ishii Yu Yamaguchi Yosuke Ichihashi Yosuke Ichihashi Daigo Ochiai Hiroshi Asanuma Hiroshi Asanuma Tatsuo Kuroda Tatsuo Kuroda Tomonobu Hasegawa Tomonobu Hasegawa |
| author_facet | Takeshi Sato Takeshi Sato Tomohiro Ishii Tomohiro Ishii Yu Yamaguchi Yosuke Ichihashi Yosuke Ichihashi Daigo Ochiai Hiroshi Asanuma Hiroshi Asanuma Tatsuo Kuroda Tatsuo Kuroda Tomonobu Hasegawa Tomonobu Hasegawa |
| author_sort | Takeshi Sato |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T06:36:47Z |
| format | Article |
| id | doaj.art-4e1f1c563d9b4c00a6c441245745778b |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-17T06:36:47Z |
| publishDate | 2021-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-4e1f1c563d9b4c00a6c441245745778b2022-12-21T21:59:59ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-01-01810.3389/fped.2020.569548569548Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous GenitaliaTakeshi Sato0Takeshi Sato1Tomohiro Ishii2Tomohiro Ishii3Yu Yamaguchi4Yosuke Ichihashi5Yosuke Ichihashi6Daigo Ochiai7Hiroshi Asanuma8Hiroshi Asanuma9Tatsuo Kuroda10Tatsuo Kuroda11Tomonobu Hasegawa12Tomonobu Hasegawa13Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanDepartment of Pediatrics, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanDepartment of Clinical Genetics, Gunma Children's Medical Center, Gunma, JapanDepartment of Pediatrics, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanDepartment of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanDepartment of Urology, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanDepartment of Pediatric Surgery, Keio University School of Medicine, Tokyo, JapanDepartment of Pediatrics, Keio University School of Medicine, Tokyo, JapanThe center for Differences of Sex Development, Keio University Hospital, Tokyo, JapanThe 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.https://www.frontiersin.org/articles/10.3389/fped.2020.569548/fullambiguous genitaliacase reportdifferences in sex developmentprenatal genetic counselingsex assignment |
| spellingShingle | Takeshi Sato Takeshi Sato Tomohiro Ishii Tomohiro Ishii Yu Yamaguchi Yosuke Ichihashi Yosuke Ichihashi Daigo Ochiai Hiroshi Asanuma Hiroshi Asanuma Tatsuo Kuroda Tatsuo Kuroda Tomonobu Hasegawa Tomonobu Hasegawa Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia Frontiers in Pediatrics ambiguous genitalia case report differences in sex development prenatal genetic counseling sex assignment |
| 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 | ambiguous genitalia case report differences in sex development prenatal genetic counseling sex assignment |
| url | https://www.frontiersin.org/articles/10.3389/fped.2020.569548/full |
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