Franasiak Jason M, Yao Xinxin, Ashkinadze Elena, Rosen Todd, Scott Richard T
Divisions of Reproductive Endocrinology and Infertility and Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, and Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Obstet Gynecol. 2015 Feb;125(2):383-386. doi: 10.1097/AOG.0000000000000503.
Multimodal prenatal screening for developmental pathology is increasingly common. In this case, definitive prenatal diagnosis of androgen insensitivity syndrome was diagnosed after discordant results from karyotypes determined by embryonic preimplantation genetic screening and antenatal ultrasound results.
A 38-year-old woman, gravida 2 para 0010, undergoing in vitro fertilization with preimplantation genetic screening transferred one male and one female embryo. An anatomic ultrasonogram revealed two fetuses with female genitalia. Cell-free fetal DNA analyzed using noninvasive prenatal screening demonstrated Y chromosome material, and amniocentesis confirmed one 46,XX and one 46,XY fetus. Sequencing of the androgen receptor for the 46,XY fetus identified a mutation.
With increased use, discordance among prenatal testing modalities such as preimplantation genetic screening, noninvasive prenatal screening, and ultrasonography will become more common requiring expert navigation to identify true pathology.
多模式产前发育病理学筛查越来越普遍。在此病例中，胚胎植入前基因筛查确定的核型结果与产前超声结果不一致后，确诊为雄激素不敏感综合征。
一名38岁女性，孕2产0010，接受体外受精并进行植入前基因筛查，移植了一枚男性胚胎和一枚女性胚胎。解剖超声检查显示有两个胎儿，生殖器为女性。使用无创产前筛查分析的游离胎儿DNA显示存在Y染色体物质，羊膜穿刺术证实有一个46,XX胎儿和一个46,XY胎儿。对46,XY胎儿的雄激素受体进行测序发现了一个突变。
随着应用的增加，植入前基因筛查、无创产前筛查和超声检查等产前检测模式之间的不一致将变得更加常见，需要专家指导以识别真正的病理情况。
