Guibaud P, Auvinet M, Bozon D, Maire I, Chambon V, Chevallier F, Mathieu M, André J, Cordier-Alex M P, Chazalette J P
Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon.
J Genet Hum. 1989 Jan;37(1):43-9.
Enzymatic prenatal diagnosis of cystic fibrosis was performed in 113 amniotic fluids and DNA polymorphism was studied in 104 families, including 28 cases with prenatal material analysis. According to the results, the enzymatic diagnosis should be cautiously interpreted when the risk is less than 1/4. In these situations DNA analysis in the parents is very helpful to assess the reliability of enzymatic diagnosis.
对113份羊水进行了囊性纤维化的酶法产前诊断,并对104个家庭进行了DNA多态性研究,其中28例进行了产前材料分析。根据结果,当风险小于1/4时,酶法诊断的解读应谨慎。在这些情况下,对父母进行DNA分析有助于评估酶法诊断的可靠性。