Abnormal pregnancy sonogram: selective indication for fetal karyotype.
The inability to make a definitive diagnosis in the fetus with a sonographically identified abnormality often results in parental and physician uncertainty. An antenatal chromosome evaluation could resolve this uncertainty. Forty-one fetuses with an abnormal ultrasound examination were tested for karyotypic abnormality using a variety of specimens. Nearly one-third (13 of 41) of these fetuses had various chromosome abnormalities. There were only seven survivors in this series, underscoring the often poor prognosis when a significant ultrasound defect is detected antenatally. Knowledge of the fetal chromosome constitution in the setting of an abnormal ultrasound has important epidemiologic, cost-benefit, counseling, and pregnancy management implications.
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography