Taherzadeh Boroujen Parisa, Nemati Mitra, Naderipour Fatemeh
Shahid Beheshti University of Medical Sciences, School of Medicine, Tehran, Iran.
Medicine (Baltimore). 2025 Jan 31;104(5):e37872. doi: 10.1097/MD.0000000000037872.
Despite the potential risks, assisted reproductive technology has provided hope and opportunities for individuals and couples struggling with infertility to conceive and have children. This study presents a case report that describes an occurrence where a pregnancy achieved through in vitro fertilization (IVF) and embryo transfer had to be ended because of the presence of trisomy 21 syndrome.
Two 26-year-old women who were diagnosed with primary infertility due to polycystic ovary syndrome manifested with overweight and hirsutism.
These 2 cases were regarded as a diagnosis of Down syndrome, which resulted in the decision to legally terminate the pregnancy when the mother was, in her 12th week and 4 days of gestation. Upon examining the makeup of the cells in the chorionic villi it was discovered that all cells had a chromosomal composition of 47, XX.
In these case reports, 2 26-year-old woman with polycystic ovary syndrome underwent assisted reproductive technology and IVF to conceive. The first IVF transfer was unsuccessful, but the second attempt resulted in a successful transfer in both cases. However, a positive screening for Down syndrome led to a legal abortion at 12 + 4 weeks gestation.
Genetic counseling revealed no family history of genetic diseases, and the couple opted for IVF without preimplantation genetic testing. During the trimester of their pregnancies the expectant mothers were initially screened at 12 + 4 weeks after conception. Nuchal translucency examination showed thickening of the fluid at the back of the fetal neck. Moreover, there was an increase in the levels of pregnancy related plasma protein and β human chorionic gonadotropin.
These 2 cases underscore the significance of genetic counseling and prenatal screening for couples who are undergoing assisted reproductive technologies, with the purpose of detecting and effectively addressing any possible genetic abnormalities that may arise in their progeny.
尽管存在潜在风险，但辅助生殖技术为那些与不孕症作斗争的个人和夫妇提供了受孕和生育的希望与机会。本研究呈现了一份病例报告，描述了一例通过体外受精（IVF）和胚胎移植实现的妊娠因21三体综合征而不得不终止的情况。
两名26岁女性因多囊卵巢综合征被诊断为原发性不孕症，表现为超重和多毛。
这2例被诊断为唐氏综合征，导致在母亲妊娠第12周零4天时决定合法终止妊娠。检查绒毛膜绒毛中的细胞组成时发现，所有细胞的染色体组成为47，XX。
在这些病例报告中，两名患有多囊卵巢综合征的26岁女性接受了辅助生殖技术和IVF以受孕。第一次IVF移植未成功，但第二次尝试在两例中均成功移植。然而，唐氏综合征筛查呈阳性导致在妊娠12 + 4周时进行了合法堕胎。
遗传咨询显示无遗传疾病家族史，这对夫妇选择了未进行植入前基因检测的IVF。在孕期，准妈妈们在受孕后12 + 4周时首次接受筛查。颈部透明带检查显示胎儿颈部后方液体增厚。此外，妊娠相关血浆蛋白和β人绒毛膜促性腺激素水平升高。
这2例病例强调了遗传咨询和产前筛查对接受辅助生殖技术的夫妇的重要性，目的是检测并有效解决其后代可能出现的任何潜在遗传异常。
