Sato Takeshi, Ishii Tomohiro, Yamaguchi Yu, Ichihashi Yosuke, Ochiai Daigo, Asanuma Hiroshi, Kuroda Tatsuo, Hasegawa Tomonobu
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
The center for Differences of Sex Development, Keio University Hospital, Tokyo, Japan.
Front Pediatr. 2021 Jan 13;8:569548. doi: 10.3389/fped.2020.569548. eCollection 2020.
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.
未来，疑似生殖器模糊的胎儿的出现可能会增加。目前，产前遗传咨询对父母理解和心理准备的影响尚未得到探讨。我们为两名疑似生殖器模糊的胎儿的父母提供了产前遗传咨询。病例1：妊娠22周时，尽管羊水细胞检测显示为46,XY，但发现大阴唇肿胀，有类似阴蒂的结构。病例2：妊娠28周时，发现膀胱外翻和类似阴囊的结构。在妊娠32周（病例1）和37周（病例2）时，我们与父母分享了关于出生时法定性别指定可能存在的困难以及出生证明登记情况的信息。出生时，两个婴儿均表现为生殖器模糊。对于这两个病例，父母在首次看到婴儿生殖器时都保持冷静。一个月后，我们与父母分享了医疗信息，包括核型、睾酮生成能力和手术时间表。两个病例的父母均将各自婴儿的法定性别指定为男性。几个月后，对父母进行了关于产前遗传咨询的询问。病例1：母亲说：“我已做好冷静面对宝宝生殖器问题的准备。”父亲说：“我了解法定性别指定的程序。”病例2：母亲说：“如果没有咨询，我会更加心烦和担忧。”父亲说：“我们得到保证，多学科专家会支持我们。”产前遗传咨询为父母提供了安心感，使他们在孩子法定性别指定的整个过程中都能了解情况并保持情绪稳定。
