Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

• Published in: American journal of medical genetics Vol. 64; no. 1; p. 187
• Main Authors: Grasso, M, Perroni, L, Colella, S, Piombo, G, Argusti, A, Lituania, M, Buscaglia, M, Giussani, U, Grimoldi, M G, Bricarelli, F D
• Format: Journal Article
• Language: English
• Published: United States 12.07.1996
• Subjects: Chorionic Villi Sampling; DNA Methylation; Female; Fragile X Syndrome - diagnosis; Fragile X Syndrome - genetics; Genetic Carrier Screening; Humans; Male; Pregnancy; Prenatal Diagnosis
• ISSN: 0148-7299
• DOI: 10.1002/(SICI)1096-8628(19960712)64:1<187::AID-AJMG33>3.0.CO;2-H

The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was terminated. For 1 diagnosis, linkage analysis was used: the female fetus turned out to be normal. In 24 fetuses, the direct analysis of the mutation by StB12.3 probe was performed: 6 female and 3 male fetuses were found to carry a full mutation and 1 female fetus was found to carry a premutation. In 3 cases, the diagnoses were verified on fetal blood samples. Several tissues of 2 aborted male fetuses were analyzed for the fragile X mutation. The results are reported and discussed.