39 岁特纳综合征（染色体部分单体型）患者行单枚整倍体冷冻胚胎移植后临床妊娠并分娩活婴
Live birth after single euploid frozen embryo transfer in a 39-year-old woman with high-grade mosaic Turner syndrome.
机构信息
Department of Gynecology and Obstetrics, Reproductive Medicine Division, University of São Paulo, Ribeirão Preto Medical School, São Paulo,Brazil.
Department of Collective Health, Faculdade de Medicina do ABC, São Paulo, Brazil.
出版信息
J Matern Fetal Neonatal Med. 2023 Dec;36(2):2261064. doi: 10.1080/14767058.2023.2261064. Epub 2023 Sep 24.
OBJECTIVE
To describe the reproductive and obstetric outcomes of an intracytoplasmic sperm injection cycle with preimplantation genetic testing for aneuploidy in an advanced reproductive-age woman with high-grade mosaic Turner syndrome.
METHODS
Case report of a 39-year-old woman diagnosed with mosaic Turner Syndrome 45,X[90]/46,XX[10] karyotype who underwent fertilization treatment with blastocyst trophectoderm biopsy for preimplantation genetic testing using next-generation sequencing.
RESULT(S): Two of the four blastocysts biopsied were euploid. The patient achieved ongoing pregnancy after the first single euploid frozen embryo transfer, followed by the birth of a healthy child.
CONCLUSION
Autologous intracytoplasmic sperm injection cycles can be considered in a select group of advanced reproductive-age women diagnosed with high-grade mosaic Turner syndrome.
目的
描述一例高龄特纳综合征（嵌合型 45,X[90]/46,XX[10]）患者行卵胞浆内单精子注射，并对胚胎进行植入前遗传学检测（使用新一代测序技术）后，妊娠和分娩的结局。
方法
对一例诊断为嵌合型特纳综合征的 39 岁女性进行卵胞浆内单精子注射受精治疗，胚胎培养至囊胚阶段，取滋养外胚层细胞进行活检，行植入前遗传学检测。
结果
活检的 4 枚囊胚中，有 2 枚为整倍体。患者首次行单枚整倍体冷冻胚胎移植后获得临床妊娠，并分娩一健康婴儿。
结论
对于诊断为高级别嵌合型特纳综合征的部分高龄患者，可以考虑进行自体卵胞浆内单精子注射周期。
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