Houston Fertility Institute, New Houston Health, 2500 Fondren Rd,, Suite 350, Houston, TX 77063, USA.
J Ovarian Res. 2013 Oct 8;6(1):70. doi: 10.1186/1757-2215-6-70.
High proportions of human embryos produced by in vitro fertilization are aneuploidy and mosaic. DNA microarray is one of the most practical screening methods to select euploid embryos for transfer. However, mosaic pregnancy is still possible due to embryonic mosacism. Here we report a successful pregnancy after transfer of a mosaic blastocyst with euploid inner cell mass.
A woman with a previous trisomy 13 pregnancy pursued infertility treatment with preimplantation genetic screening by a trophectoderm biopsy and DNA microarray. NimbleGen oligonucleotide DNA microarray was applied to biopsied samples from 13 blastocysts. A euploid blastocyst was transferred to the patient and subsequent prenatal cytogenetic tests were performed by FISH and/or G banding.
Following DNA microarray, it was found that 5 blastocysts were euploid and 8 were aneuploidy. Transfer of one euploid blastocyst resulted in a clinical pregnancy. Prenatal cytogenetic tests of samples biopsied from chorionic villi sample showed both trisomy 21 (47 XX, +21) and euploid (46, XX) cells. Further prenatal cytogenetic test with a sample from amniotic fluid indicated that all cells were euploid (46, XX). The pregnancy was continued and a healthy girl was delivered after 41 weeks of gestation.
This is the first report to indicate a mosaic pregnancy after transfer of a "euploid" blastocyst that was screened by DNA microarray, and the case further confirms that mosaicism is present in human blastocysts produced by in vitro fertilization.
体外受精产生的胚胎中，高比例为非整倍体和嵌合体。DNA 微阵列是筛选可用于移植的整倍体胚胎的最实用的方法之一。然而，由于胚胎嵌合性，仍然可能发生嵌合妊娠。在此，我们报告了一例成功的妊娠，该妊娠是通过转移具有整倍体内细胞团的嵌合囊胚实现的。
一名妇女曾怀有三体 13 妊娠，她通过滋养外胚层活检和 DNA 微阵列进行了不孕治疗的胚胎植入前遗传学筛查。应用 NimbleGen 寡核苷酸 DNA 微阵列对 13 个囊胚的活检样本进行分析。将一个整倍体囊胚转移给患者，并随后通过荧光原位杂交（FISH）和/或 G 带对产前细胞遗传学检测进行检测。
进行 DNA 微阵列分析后，发现 5 个囊胚为整倍体，8 个为非整倍体。转移一个整倍体囊胚后，临床妊娠成功。对绒毛膜取样的活检样本进行产前细胞遗传学检测，结果显示既有三体 21（47 XX，+21）细胞，也有整倍体（46，XX）细胞。进一步对羊水样本进行产前细胞遗传学检测，表明所有细胞均为整倍体（46，XX）。妊娠继续进行，在 41 周妊娠后分娩出一名健康女婴。
这是首例通过 DNA 微阵列筛选出“整倍体”囊胚并进行转移后发生嵌合妊娠的报告，该病例进一步证实了体外受精产生的人类囊胚中存在嵌合现象。
