Examination of fetuses with a pre-termination diagnosis of neural tube defect or hydrocephalus.
Fifty-five fetuses with a pre-termination diagnosis of neural tube defect or hydrocephalus were examined. Termination was carried out on the basis of an elevated amniotic alpha-fetoprotein in 24 and on ultrasound examination in 31. Although pre-termination diagnosis was confirmed in 45 cases, a new or more refined diagnosis was made in 10. There was a high incidence of non-neural tube malformations. Fetuses terminated in a prenatal diagnosis screening programme should always be examined to establish the exact diagnosis for the provision of recurrence risks for genetic counselling and as a quality control for the test involved.
D000015:Abnormalities, Multiple / Q000473:pathology; D000032:Abortion, Therapeutic; D005260:Female; D005333:Fetus / Q000473:pathology*; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000473:pathology*; D009436:Neural Tube Defects / Q000175:diagnosis / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards; D011786:Quality Control