Transvaginal ultrasonography and transabdominal embryoscopy in the first-trimester diagnosis of Smith-Lemli-Opitz syndrome, type II.
OBJECTIVE
Our goal was to demonstrate the efficacy of transabdominal embryoscopy in the first trimester of pregnancy.


METHODS
A patient at risk for Smith-Lemli-Opitz syndrome, type II, was referred for prenatal diagnosis at 11 weeks 5 days of gestation.


RESULTS
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.


CONCLUSIONS
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.
Hobbins
J C
JC
Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, Denver 80262.
Jones
O W
OW
Gottesfeld
S
S
Persutte
W
W
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005332:Fetoscopy / Q000379:methods; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging; D008831:Microcephaly / Q000000981:diagnostic imaging; D017689:Polydactyly / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D013577:Syndrome; D016216:Ultrasonography, Prenatal