Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts
Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts
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DOI：
10.1016/j.fertnstert.2005.05.063
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发表时间：
2005-12-01
影响因子：
6.7
通讯作者：
Jansen, RPS
中科院分区：
文献类型：
--
作者：
McArthur, SJ;Leigh, D;Jansen, RPS
目的：比较第5天囊胚的多细胞滋养外胚层活检用于植入前遗传学诊断（PGD）与先前发表的第3天卵裂期胚胎的经验。设计：实验室和临床经验的回顾性综述。设置：悉尼IVF，澳大利亚的一家私人诊所。患者：植入前遗传学诊断（PGD）患者年龄< 44岁，至少有一个IVF囊胚适合活检，干预：在第5天或第6天从胚泡进行滋养外胚层活检，并在同一天进行PGD以进行突变检测、易位检测、非整倍体筛查或性别选择。主要结果测量：胎儿心脏阳性妊娠率和累积活产率，将特定夫妇的新鲜和冷冻囊胚活检结果相加后。结果：在231个开始的PGD治疗周期中，从1，050个活检囊胚中的974个（93%）获得明确结果;所有的胚泡通过其胚泡突出的重建而在活组织检查过程中存活。119名妇女（中位年龄36岁）有127个新鲜囊胚移植（胎心阳性植入率41%）。在146个冷冻保存的囊胚中，27个已经解冻（全部具有> 50%的细胞存活率），24个被转移（植入率，26%）。到目前为止，53例妊娠已经分娩或正在进行中，另有4例临床流产（7%）和6例亚临床流产（总流产率，包括生化妊娠，16%）。无双胎妊娠。结论：与卵裂期胚胎活检相比，通过技术上适当的囊胚培养和冷冻，囊胚活检和冷冻保存以及随后转移活检的囊胚被证明是胚胎植入前遗传学检测的实用且可能更优选的途径，伴随着高植入率（因此更有利于选择性单胚胎移植）和低双胎率和流产率。
Objective: To compare multiple-cell trophectoderm biopsy for preimplantation genetic diagnosis (PGD) from day-5 blastocysts with previously published experience with day-3 cleavage-stage embryos.Design: Retrospective review of laboratory and clinical experience.Setting: Sydney IVF, a private clinic in Australia.Patient(s): Preimplantation genetic diagnosis (PGD) patients age < 44 years with at least one IVF blastocyst suitable for biopsy, recruited from January 2002 through August 2004.Intervention(s): Biopsy of trophectoderm from blastocysts on day 5 or 6, with same-day PGD for mutation testing, translocation testing, aneuploidy screening or sex selection. Spare, normal biopsied blastocysts were cryostored for possible later transfer.Main Outcome Measure(s): Fetal heart-positive pregnancy rate and accumulating live birth rate after adding results from biopsied fresh and frozen blastocysts for particular couples.Result(s): In 231 started PGD treatment cycles, unambiguous results were obtained from 974 of 1,050 biopsied blastocysts (93%); all blastocysts survived the biopsy procedure by reconstitution of their blastocele. One hundred nineteen women (median age, 36 years) have had 127 blastocysts transferred fresh (fetal heart-positive implantation rate, 41%). Of 146 blastocysts cryostored, 27 have been thawed (all with > 50% cell survival) and 24 transferred (implantation rate, 26%). To date, 53 pregnancies have been delivered or are ongoing, with an additional 4 clinical miscarriages (7%) and 6 subclinical miscarriages (total miscarriage rate, including biochemical pregnancies, 16%). There were no twin pregnancies.Conclusion(s): With technically appropriate blastocyst culture and freezing, blastocyst biopsy and cryostorage and later transfer of biopsied blastocysts is shown to be a practical and probably preferable path to preimplantation genetic testing of embryos compared with cleavage-stage embryo biopsy, being accompanied by a high implantation rate (and hence more conducive to elective single embryo transfer) and by a low rate of twinning and miscarriage.