Devillard F, Prieur F, Delhomme-Bachy M, De Freminville B, Lauras B, Brizard C P, Fraisse J, Bertheas M F
Department of Haematology, Hôpital Nord, St-Priest-en-Jarez, France.
Prenat Diagn. 1992 Jul;12(7):613-8. doi: 10.1002/pd.1970120708.
Since 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)-positive. Results were confirmed in 10/13 cases. In these cases, we had neither false-positive nor false-negative results.
自1987年以来，我们通过对羊水培养物进行细胞遗传学研究，对11名有脆性X综合征风险的女性进行了13次产前诊断。诱导方法包括TC 199培养基和甲氨蝶呤。所有病例均获得了结果。10例为男性，其中3例产前诊断为患病。3例为女性，均为脆性X染色体阴性。13例中有10例结果得到了证实。在这些病例中，我们既没有假阳性结果，也没有假阴性结果。
