Hobbins J C, Jones O W, Gottesfeld S, Persutte W
Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, Denver 80262.
Am J Obstet Gynecol. 1994 Aug;171(2):546-9. doi: 10.1016/0002-9378(94)90297-6.
Our goal was to demonstrate the efficacy of transabdominal embryoscopy in the first trimester of pregnancy.
A patient at risk for Smith-Lemli-Opitz syndrome, type II, was referred for prenatal diagnosis at 11 weeks 5 days of gestation.
A transvaginal ultrasonographic examination revealed the presence of a nuchal membrane and bilateral polydactyly. A transabdominal embryoscopy confirmed the diagnosis of polydactyly. The patient had an unremarkable postprocedure course before termination of pregnancy 5 days later. In a second pregnancy embryoscopy revealed a normal fetal hand despite a suggestion on transvaginal ultrasonography that there was polydactyly. On the basis of this information the patient elected to continue the pregnancy, and a normal baby was delivered at 35 weeks.
This case validates the efficacy of noninvasive and invasive techniques, used adjunctively, in the first-trimester diagnosis of a lethal fetal condition composed of subtle phenotypic manifestations.
