Sepulveda W, Leung K Y, Robertson M E, Kay E, Mayall E S, Fisk N M
Centre for Fetal Care, Royal Postgraduate Medical School, Queen Charlotte's and Chelsea Hospital, London, United Kingdom.
Obstet Gynecol. 1996 Jan;87(1):103-6. doi: 10.1016/0029-7844(95)00356-8.
To determine the prevalence of the most common cystic fibrosis mutations in pregnancies complicated by fetal echogenic bowel by using DNA testing.
Forty-five pregnancies with fetal echogenic bowel were studied prospectively for cystic fibrosis mutations. Using polymerase chain reaction, DNA from fetal amniocytes (n = 21), fetal blood (n = 5), or parental blood (n = 19) was amplified and tested for delta F508, G551D, G542X, and 621 + 1G-->T cystic fibrosis mutations, which account for about 85% of the mutations in the British population. In selected cases, further mutations were tested according to the parental ethnic background.
Only one of the 26 fetuses screened was heterozygous for cystic fibrosis mutations. Among 38 parental samples screened from the remaining 19 pregnancies, cystic fibrosis mutations were detected in two cases, only one of the parents being a carrier in each case. The prevalence of cystic fibrosis carrier status in fetal and parental samples (1:26 and 1:19, respectively) is within the expected prevalence in the British population (1:25). No fetuses were affected by cystic fibrosis in this series, but five were found to have growth restriction, two trisomy 21, two congenital infection, and two bowel obstruction.
Our results suggest that ultrasonographic detection of fetal echogenic bowel is not associated with an increased prevalence of cystic fibrosis mutations in pregnancies at low risk for this disease.
通过DNA检测确定合并胎儿肠回声增强的妊娠中最常见囊性纤维化突变的患病率。
对45例合并胎儿肠回声增强的妊娠进行前瞻性囊性纤维化突变研究。使用聚合酶链反应，对来自胎儿羊膜细胞（n = 21）、胎儿血液（n = 5）或父母血液（n = 19）的DNA进行扩增，并检测ΔF508、G551D、G542X和621 + 1G→T囊性纤维化突变，这些突变约占英国人群中突变的85%。在选定病例中，根据父母的种族背景检测其他突变。
在筛查的26例胎儿中，只有1例为囊性纤维化突变杂合子。在从其余19例妊娠中筛查的38份父母样本中，在2例中检测到囊性纤维化突变，每例中只有1名父母为携带者。胎儿和父母样本中囊性纤维化携带者状态的患病率（分别为1:26和1:19）在英国人群的预期患病率（1:25）范围内。该系列中无胎儿受囊性纤维化影响，但发现5例有生长受限，2例21三体，2例先天性感染和2例肠梗阻。
我们的结果表明，超声检查发现胎儿肠回声增强与该疾病低风险妊娠中囊性纤维化突变患病率增加无关。
