title: Transvaginal ultrasonography and transabdominal embryoscopy in the first-trimester diagnosis of Smith-Lemli-Opitz syndrome, type II.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Colorado Health Sciences Center, Denver 80262.
authors.forename: J C
authors.initials: JC
authors.lastname: Hobbins
authors.forename: O W
authors.initials: OW
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Gottesfeld
authors.forename: W
authors.initials: W
authors.lastname: Persutte
mesh_terms: 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