Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy

A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post-mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.     

Carrier screening for cystic fibrosis

A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. Only in the latter form of screening has sufficient data been collected to allow conclusions to be reached on the optimum mode of delivery. It seems very probable that when CF carrier screening passes into routine service, it will be the antenatal couple model that is used.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

Prenatal diagnosis of cystic fibrosis using linked DNA probes

This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.     

Resolution of DNA linkage discrepancies through analysis of a VNTR locus in a family study of cystic fibrosis

First-trimester prenatal diagnosis of a fetus at 25 per cent risk for cystic fibrosis (CF) was performed by indirect linkage analysis of polymorphic markers using Southern blotting and polymerase chain reaction (PCR) amplification. The results revealed discrepancies in the allelic patterns between the father and the affected child, thereby complicating the prediction of fetal outcome. Analysis of a highly polymorphic VNTR locus within the human retinoblas-toma (RB) gene on chromosome 13 showed that the affected child and the fetus did not have the same biological father, and therefore the affected child could not be used to determine linkage of markers in the father of the fetus. The analysis of VNTR loci can be an effective method of resolving conflicting data during prenatal diagnosis of monogenic diseases.     

Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

宁东能源化工基地大气PM2.5中硝基多环芳烃污染特征及呼吸暴露风险

利用大气主动采样技术对宁东能源化工基地大气PM_(2.5)中硝基多环芳烃(NPAHs)的污染特征、一次排放和二次形成源贡献及呼吸暴露风险进行了观测研究.结果表明,宁东能源化工基地大气PM_(2.5)中Σ _(12)NPAHs质量浓度在2. 06～37. 14ng·m~(-3)之间,其中基于能源产业的宝丰采样点冬、夏季采样期Σ _(12)NPAHs的平均质量浓度分别为(25. 57±5. 76) ng·m~(-3)和(6. 22±1. 74) ng·m~(-3).以化工、电力产业为主的英力特采样点冬、夏季Σ _(12)NPAHs平均质量浓度分别为(7. 13±1. 44)ng·m~(-3)和(2. 58±0. 39) ng·m~(-3),两采样点均表现出冬季高于夏季的季节特征,推测为冬季取暖造成较高的NPAHs一次排放所致.宝丰采样点Σ _(12)NPAHs浓度水平明显高于英力特,可能与宝丰的煤炭开采及焦炭生产的能源产业较化工产业造成更高的NPAHs一次排放相关,因而造成了Σ _(12)NPAHs浓度水平的空间差异.两个采样点PM_(2.5)中Σ _(12)NPAHs浓度的夜昼比表明,夏季Σ _(12)NPAHs浓度日间明显高于夜间而冬季则相反,表明夏季日间较夜间存在更活跃的大气光化学反应,较夜间贡献更多二次形成的NPAHs. NPAHs族谱特征的时空差异表现为:宝丰和英力特采样点冬夏季均以一次排放标识物2N-FLO和6N-CHR为主要占比,其中宝丰采样点冬季2N-FLO和6N-CHR总占比为46%,夏季为73%,英力特采样点冬季总占为59%,夏季为55%.但英力特采样点夏季二次形成的标识物3N-PHE浓度占比较宝丰更高,表明基于化工产业的英力特较宝丰存在更高的前体物排放,由此贡献更多二次形成的NPAHs.本研究还借助Σ _(12)NPAHs/Σ _(16)PAHs比值对NPAHs可能的来源贡献进行了分析研究,结果表明宁东能源化工基地夏季较高的温度促进了PAHs的降解以及NPAHs的二次形成,较冬季贡献更多二次形成源的NPAHs.基于BaP等效毒性因子评价法估算了PM_(2.5)中Σ _5NPAHs的呼吸暴露肺癌风险,结果表明,宝丰采样点PM_(2.5)中Σ _5NPAHs的肺癌风险值冬季为(3. 06×10~(-5)±1. 36×10~(-5)),夏季为(1. 79×10~(-5)±0. 80×10~(-5)),英力特采样点冬季为(2. 85×10~(-5)±1. 20×10~(-5)),夏季为(1. 86×10~(-5)±0. 83×10~(-5)).宝丰和英力特肺癌风险值均高于Cal/EPA规定的1. 00×10~(-5)的限值,表明宁东能源化工基地人群存在一定程度的大气PM_(2.5)中NPAHs呼吸暴露肺癌风险.