First-trimester needle embryofetoscopy and prenatal diagnosis.

Objective: To demonstrate the efficacy of first-trimester needle embryofetoscopy (or embryoscopy) for prenatal diagnosis in a continuing pregnancy.
Study Design: A patient at risk for giving birth to an infant with Robert's syndrome was referred for prenatal diagnosis at 12 weeks of gestation.
Results: Transabdominal embryoscopy and amniocentesis were performed. Direct visualization of the embryo was achieved and no gross limb or facial abnormalities were seen. Chromosome studies of the amniotic fluid revealed a normal male 46, XY. Special studies with C-banding and DAPI techniques revealed no evidence of premature separation of centromeres. Two- and three-dimensional ultrasound also demonstrated no gross limb or facial abnormalities.
Conclusions: This case confirms the efficacy of embryoscopy as a simple and relatively low-risk approach to first-trimester diagnosis for continuing pregnancies.