Yilmaz E, Ozgüç M, Coşkun T, Beksaç S, Cakar N, Ayter S, Ozalp I
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 1991 Apr-Jun;33(2):79-84.
Prenatal diagnosis of cystic fibrosis (CF) was made in a Turkish family whose first born child was diagnosed at necropsy as having CF. Two consecutive pregnancies followed. The fetus of the second pregnancy was diagnosed as having CF by the microvillar enzyme assay and was aborted. The diagnosis was verified by the DNA polymerase chain reaction analysis using chorionic villi from the abortus. In the third pregnancy, amniocentesis was performed in the 17th week, and KM19 polymorphism linked to CF was used to assess the status of the fetus. Since the fetus was determined to be a carrier, the family was advised to continue with the pregnancy.
在一个土耳其家庭中对囊性纤维化(CF)进行了产前诊断,该家庭的第一个孩子在尸检时被诊断为患有CF。随后又有两次连续妊娠。第二次妊娠的胎儿通过微绒毛酶测定被诊断为患有CF并终止妊娠。通过对流产胎儿的绒毛膜进行DNA聚合酶链反应分析验证了诊断结果。在第三次妊娠中,于第17周进行了羊膜穿刺术,并使用与CF相关的KM19多态性来评估胎儿状况。由于确定胎儿为携带者,建议该家庭继续妊娠。