Spence J E, Buffone G J, Rosenbloom C L, Fernbach S D, Curry M R, Carpenter R J, Ledbetter D H, O'Brien W E, Beaudet A L
Hum Genet. 1987 May;76(1):5-10. doi: 10.1007/BF00283042.
Prenatal diagnosis was performed for 47 pregnancies with 1 in 4 risk of cystic fibrosis, including 7 cases analyzed with linked DNA markers, 16 cases analyzed by microvillar intestinal enzyme testing, and 24 cases where both methods of testing were attempted. DNA was obtained by chorionic villus sampling in 10 cases and by amniocentesis in 21 cases, and diagnosis was based on analysis with the tightly linked DNA markers D7S8 and met. DNA analysis using these probes was fully informative in 74.4% of 90 couples with 1 in 4 risk. In 18 cases where both DNA results and microvillar intestinal enzyme data were diagnostic, there was agreement regarding the predicted status of the fetus. No adequate diagnosis was achieved in two cases where both diagnostic tests were attempted. Outcome is known for 24 pregnancies including 10 where DNA analysis was diagnostic, and no errors in diagnosis were detected. Prenatal diagnosis of cystic fibrosis using DNA markers is highly informative and accurate, but microvillar intestinal enzyme analysis remains a valuable part of a complete diagnostic program.
对47例胎儿进行了产前诊断，这些胎儿患囊性纤维化的风险为四分之一，其中7例采用连锁DNA标记进行分析，16例通过小肠微绒毛酶检测进行分析，24例尝试了两种检测方法。10例通过绒毛取样获取DNA，21例通过羊膜穿刺术获取DNA，诊断基于紧密连锁的DNA标记D7S8和met进行分析。在90对风险为四分之一的夫妇中，使用这些探针进行DNA分析的信息完整率为74.4%。在18例DNA结果和小肠微绒毛酶数据均具有诊断价值的病例中，关于胎儿的预测状态达成了一致。在尝试了两种诊断测试的2例病例中，未获得充分诊断。已知24例妊娠的结局，其中10例DNA分析具有诊断价值，未检测到诊断错误。使用DNA标记进行囊性纤维化的产前诊断信息丰富且准确，但小肠微绒毛酶分析仍然是完整诊断程序的重要组成部分。
