Experience with prenatal fragile X detection.
We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometric, bone age, anatomical and neurohistological studies were normal. Normal outcome was confirmed after birth in 2 males and one female on the basis of whole blood fra(X) studies. A presumptively positive female and a presumptively negative female await confirmation. Two presumptively negative males remain unborn. Further experience is needed to establish the reliability of the prenatal detection of fra(X) (q27).
D000302:Adrenal Cortex / Q000473:pathology; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002873:Chromosome Fragility; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011712:Pyramidal Tracts / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013737:Testis / Q000473:pathology