Hyett J A, Clayton P T, Moscoso G, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, Kings College Hospital Medical School, London, England.
Am J Med Genet. 1995 Sep 25;58(4):374-6. doi: 10.1002/ajmg.1320580415.
Routine ultrasound examination at 11 weeks of gestation in a woman with no family history of genetic disease demonstrated increased accumulation of fluid in the fetal nuchal region. In view of the association of this defect with chromosomal abnormalities, fetal karyotyping was performed by chorion villus sampling and this demonstrated a normal 46,XY karyotype. Subsequent scans showed resolution of the nuchal fluid, and at the 20-week scan the fetal genitalia appeared to be female. Fetal blood sampling confirmed a normal male karyotype and fetoscopy confirmed the presence of female external genitalia. The parents elected to terminate the pregnancy, and postmortem findings were indicative of Smith-Lemli-Opitz syndrome. This was confirmed by the finding of increased levels of 7-dehydrocholesterol in cultured skin fibroblasts.
一名无遗传疾病家族史的女性在妊娠11周时进行常规超声检查，发现胎儿颈部区域积液增多。鉴于此缺陷与染色体异常有关，通过绒毛取样进行胎儿核型分析，结果显示核型正常，为46,XY。随后的超声扫描显示颈部积液消失，在孕20周扫描时，胎儿生殖器外观似女性。胎儿血液取样证实核型正常为男性，胎儿镜检查证实存在女性外生殖器。父母选择终止妊娠，尸检结果提示为史密斯-利姆利-奥皮茨综合征。培养的皮肤成纤维细胞中7-脱氢胆固醇水平升高证实了这一诊断。
