Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania.
Division of Urology, Department of Surgery, School of Medicine, University of Utah, Salt Lake City, Utah.
Fertil Steril. 2021 Mar;115(3):533-537. doi: 10.1016/j.fertnstert.2020.12.005.
Disorders affecting the sperm, oocyte, or embryo may cause a significant fraction of spontaneous miscarriages and cases of recurrent pregnancy loss (RPL). Altered chromosomal integrity of sperm and oocytes, which is highly dependent of the age of the mother, represents a major cause of miscarriage and in turn RPL. Avoiding transfers of abnormal embryos is possible with preimplantation genetic testing for aneuploidies. Chromosomal anomalies may also be caused by structural rearrangements of one or several chromosomes in either parents, a finding encountered in 12% of couples with RPL, including in those who have had one or several healthy babies. More than 40% of these chromosomal rearrangements are identifiable on regular karyotypes. When abnormal findings are made, preimplantation genetic testing for monogenic disorders allows selection of disease-free embryos. Finally, asymmetric inactivation of the X chromosome has been found more commonly in women with RPL, but no specific treatment is currently available.
影响精子、卵子或胚胎的疾病可能导致相当一部分自然流产和复发性妊娠丢失（RPL）。精子和卵子染色体完整性的改变，这在很大程度上取决于母亲的年龄，是流产和 RPL 的主要原因。通过对非整倍体进行胚胎植入前遗传学检测，可以避免异常胚胎的转移。染色体异常也可能是由父母一方或双方的一条或几条染色体的结构重排引起的，在 12%的 RPL 夫妇中发现了这种情况，包括那些已经有一个或多个健康婴儿的夫妇。超过 40%的这些染色体重排可以在常规核型中识别。当发现异常时，单基因疾病的胚胎植入前遗传学检测可以选择无疾病的胚胎。最后，在 RPL 妇女中发现 X 染色体的非对称失活更为常见，但目前尚无特定的治疗方法。
