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两例宫内移植嵌合非整倍体囊胚后的妊娠结局及脐血与绒毛膜绒毛的产后染色体分析

Pregnancy Outcome and Postnatal Chromosome Analysis of the Cord Blood and Chorionic Villi in Two Cases after Intrauterine Transfer of Mosaic Aneuploid Blastocysts.

作者信息

Ito Yuki, Kamide Taizan, Taniguchi Kosuke, Sato Taisuke, Yamamura Michihiro, Konishi Akiko, Takahashi Ken, Kishi Hiroshi, Hata Kenichiro, Samura Osamu, Okamoto Aikou

机构信息

Department of Obstetrics and Gynaecology, The Jikei University School of Medicine, 3-25-8, Nishi-Shinbashi, Minato-ku, Tokyo, Japan 105-8461.

Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan.

出版信息

Case Rep Obstet Gynecol. 2022 Jul 19;2022:1763948. doi: 10.1155/2022/1763948. eCollection 2022.

Abstract

The long-term prognosis and genetic mechanism of pregnancy after intrauterine mosaic aneuploid blastocyst transfer remain unknown. We report the case of two babies after the aforementioned procedure and chromosomal analysis of their cord blood and chorionic villi. . A 41-year-old primipara, with two previous spontaneous abortions, was pregnant after intrauterine transfer of a blastocyst carrying 40% mosaicism of long-arm monosomy of chromosome 5. The amniocentesis results were 46,XX. A cesarean section was performed at 39 weeks. The female infant was 3,315 g at birth. . A 44-year-old primipara, with two spontaneous abortions, was pregnant after intrauterine transfer of a blastocyst carrying 40% mosaicism of long-arm monosomy of chromosome 9 and monosomy of chromosome 14. After genetic counselling, she decided not to undergo amniocentesis. No abnormalities were found by ultrasound. A cesarean section was performed at 38 weeks. The male infant was 3,340 g at birth. Chromosome analyses of postnatal cord blood and chorionic villi were performed using SNP arrays. The cord blood and chorionic villi showed no chromosomal structural abnormalities or mosaicism. For both, no disorders were observed at 10 months of age. We experienced the birth of babies after intrauterine transfer of mosaic aneuploid blastocysts.

摘要

宫内镶嵌非整倍体囊胚移植后的长期预后和遗传机制尚不清楚。我们报告了上述手术后两名婴儿的病例及其脐带血和绒毛膜绒毛的染色体分析情况。一名41岁的初产妇,之前有两次自然流产史,在宫内移植了一个携带5号染色体长臂单体40%镶嵌性的囊胚后怀孕。羊水穿刺结果为46,XX。在39周时进行了剖宫产。女婴出生时体重为3315克。一名44岁的初产妇,有两次自然流产史,在宫内移植了一个携带9号染色体长臂单体40%镶嵌性和14号染色体单体的囊胚后怀孕。经过遗传咨询,她决定不进行羊水穿刺。超声检查未发现异常。在38周时进行了剖宫产。男婴出生时体重为3340克。使用单核苷酸多态性阵列对产后脐带血和绒毛膜绒毛进行了染色体分析。脐带血和绒毛膜绒毛未显示染色体结构异常或镶嵌性。两者在10个月大时均未观察到疾病。我们经历了镶嵌非整倍体囊胚宫内移植后婴儿的出生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac68/9325602/418954a3f2a7/CRIOG2022-1763948.001.jpg

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