Guimarães Fernando, Roque Matheus, Valle Marcello, Kostolias Alessandra, Azevedo Rodrigo A de, Martinhago Ciro D, Sampaio Marcos, Geber Selmo
ORIGEN - Center for Reproductive Medicine, Rio de Janeiro/RJ - Brazil.
UFMG - Universidade Federal de Minas Gerais, Belo Horizonte/MG - Brazil.
JBRA Assist Reprod. 2016 Dec 1;20(4):253-256. doi: 10.5935/1518-0557.20160049.
Pre-implantation genetic diagnosis (PGD) or screening (PGS) technology, has emerged and developed in the past few years, benefiting couples as it allows the selection and transfer of healthy embryos during IVF treatments. These techniques can be performed in oocytes (polar-body biopsy) or embryos (blastomere or trophectoderm biopsy). In this case report, we describe the first two live births to be published in Brazil after a polar-body (PB) biopsy. In case 1, a 42-year-old was submitted to PB biopsy with PGS due to advanced maternal age and poor ovarian reserve. Five MII oocytes underwent first and second polar body biopsy and four cleavage embryos were cryopreserved. The PGS analysis resulted in two euploid embryos (next generation sequence). A frozen-thawed embryo transfer (FET) was performed after endometrial priming and a healthy baby was delivered after a cesarean section (37 weeks, female, 3390g, 47.5 cm). In case 2, a 40-year old patient with balanced translocation and poor ovarian response was submitted to PB biopsy. Two MII oocytes underwent first and second polar body biopsy and two embryos were cryopreserved in cleavage stage. The analysis resulted in one euploid embryo that was transferred after endometrial priming. A preterm healthy baby (34 weeks, female, 2100g, 40 cm) was delivered via cesarean section. In conclusion, although the blastocyst biopsy is the norm when performing PGS/PGD during IVF treatments, other alternatives (as PB biopsy) should be considered in some specific situations.
植入前基因诊断(PGD)或筛查(PGS)技术在过去几年中出现并得到发展,它使夫妇受益,因为在体外受精治疗期间,它允许选择并移植健康胚胎。这些技术可以在卵母细胞(极体活检)或胚胎(卵裂球或滋养外胚层活检)中进行。在本病例报告中,我们描述了巴西首例经极体(PB)活检后出生的两个活产婴儿。病例1中,一名42岁女性因高龄和卵巢储备功能差接受了PGS极体活检。对5个MII期卵母细胞进行了第一极体和第二极体活检,4个卵裂期胚胎被冷冻保存。PGS分析产生了两个整倍体胚胎(新一代测序)。在子宫内膜准备后进行了冻融胚胎移植(FET),剖宫产术后(37周,女婴,3390克,47.5厘米)分娩出一个健康婴儿。病例2中,一名40岁患有平衡易位且卵巢反应差的患者接受了PB活检。对2个MII期卵母细胞进行了第一极体和第二极体活检,2个胚胎在卵裂期被冷冻保存。分析产生了一个整倍体胚胎,在子宫内膜准备后进行了移植。通过剖宫产分娩出一个早产健康婴儿(34周,女婴,2100克,40厘米)。总之,尽管在体外受精治疗期间进行PGS/PGD时,囊胚活检是常规操作,但在某些特定情况下应考虑其他替代方法(如PB活检)。