体外成熟卵母细胞的嵌合体胚胎移植结合非侵入性产前检测（NIPT）：首例整倍体活产的报告。
Mosaic embryo transfer after oocyte in vitro maturation in combination with non-invasive prenatal testing (NIPT)-first report of a euploid live birth.
机构信息
PRANOR. Grupo de Reproducción Asistida, Calle los Olivos 364, San Isidro, Lima, Peru.
Reprogenetics Latinoamerica, Lima, Peru.
出版信息
J Assist Reprod Genet. 2017 Sep;34(9):1199-1205. doi: 10.1007/s10815-017-0974-7. Epub 2017 Jun 24.
PURPOSES
The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM).
METHODS
Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied.
RESULTS
One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic. However, the next-generation sequencing (NGS) re-analysis showed that embryo was a mosaic for chromosome 13 and 21. Nevertheless, pregnancy ultrasound scans and non-invasive prenatal test (NIPT-Verifi-Illumina) indicated a normal fetus development. Finally, a healthy baby was born after 38 weeks. Its weight was 4480 g, head circumference 36 cm, and total length of 51 cm. To confirm that the baby was chromosomically normal, an NGS test was performed in buccal cells, a normal profile was obtained.
CONCLUSIONS
Our finding confirmed that mosaic embryo transfer would bring a healthy offspring.
目的
本研究旨在描述体外成熟（IVM）卵母细胞中镶嵌胚胎转移后的健康生育。
方法
患者接受微刺激，从月经周期第 3 天开始。未给予 hCG 触发。进行卵母细胞采集，将卵母细胞成熟 30 小时。去透明带后，通过 ICSI 使成熟卵受精。胚胎培养至囊胚阶段并活检。
结果
经 array 综合基因组杂交（aCGH）分析后得到一个正常二倍体胚胎。然而，下一代测序（NGS）再分析显示胚胎为 13 号和 21 号染色体的镶嵌体。尽管如此，妊娠超声扫描和非侵入性产前检测（NIPT-Verifi-Illumina）表明胎儿发育正常。最终，经过 38 周后，一名健康婴儿出生。其体重为 4480 克，头围 36 厘米，总长度为 51 厘米。为了确认婴儿的染色体是否正常，对口腔细胞进行了 NGS 测试，得到了正常的图谱。
结论
我们的发现证实，镶嵌胚胎转移可以带来健康的后代。
Zotero 插件