Confined placental mosaicism in CVS and pregnancy outcome

The perinatal outcome of 26 patients with confined placental mosaicism (CPM) detected in chorionic villus sampling (CVS) who wished to continue their pregnancies was compared with that of two controls per patient matched for age and parity (n=52). There were no significant differences in birth weight or gestational age at delivery between patients with CPM and controls. There were no cases of intrauterine growth retardation (IUGR) in the CPM patients as compared with two (2/52, 3·8 per cent) in the control group (P>0·05). There was no significant increase in fetal loss between the study group (1/26, 3·6 per cent) and the controls (1/52, 1·9 per cent) (P>0·05).     

Prenatal ultrasound diagnosis of congenital heart disease associated with intrauterine growth retardation. A report of 2 cases

Two fetuses with extreme growth retardation (IUGR) of 31 and 34 weeks gestation were studied using a combination of two dimensional echocardiography (2DE), pulse wave Doppler (PWD) and differential measurement of the instantaneous vessel diameter techniques. The first fetus was diagnosed as having univentricular heart or possible double outlet right ventricle (DORV). Descending aorta blood flow was reduced as was indexing for weight. The second fetus was diagnosed as having univentricular heart with periodic bigeminal and trigeminal rhythm. Descending aorta blood flow was measured on two occasions and was reduced both times. Indexing for weight was within normal limits the first time and showed gross reduction on the second occasion prior to fetal demise. Fetal death occurred in both cases at 34 weeks gestation. Cardiovascular evaluation in fetuses with IUGR is useful as the detection of severe congenital cardiac abnormalities may substantially alter the management of these pregnancies, in particular caesarean section may be avoided when the prognosis for the fetus is considered hopeless.     

硝基苯在渭河沉积物中双模式吸附阻滞因子

采用批量平衡法对硝基苯在渭河沉积物中的吸附特性进行了研究, 结果表明,沉积物的有机质含量和性状对硝基苯的吸附过程具有较大的影响,有机质含量和孔隙力场对硝基苯会发生竞争吸附,以Linear和Langmuir等温吸附式耦合的双模式吸附模型可以较好地描述硝基苯在河流沉积物中的吸附特性,以此获得表征其在沉积物中吸附的特性参数,通过求解对流-弥散方程的反问题,获得了双模式吸附阻滞因子数学表达式,计算出硝基苯在该沉积物中吸附的阻滞因子,并得出阻滞因子越小,硝基苯污染的环境风险越大,不仅为硝基苯在河流-地下水系统中的迁移转化规律提供了可靠参数,而且可有效预警硝基苯污染的风险程度,为管理部门提供污染防治的决策依据。     

中国儿童铅暴露健康风险评估

通过检索中国生物医学文献数据库和中国全文期刊数据库,以及相关文献追溯等途径检索收集,并按照拟定的标准筛选国内1994-2012年公开发表的有关儿童血铅水平的论文;根据调查对象居住地点,将论文分为以城市儿童为研究对象和以农村儿童为研究对象两类.在此基础上,按照WHO推荐的评价方法,评估儿童铅暴露引起的轻度精神发育迟滞(以精神发育迟滞MMR发病率表征)及其疾病负担(以伤残调整寿命年DALYs表征),以此评价中国儿童铅暴露的健康风险.结果表明,中国城市儿童的血铅均值为7.02 μg·dL-1,MMR的发病率为17.9‰,农村儿童相应值分别为7.88 μg·dL-1和19.8‰.城市和农村儿童因铅暴露导致的DALYs损失分别为每千人39.4例和43.2例.结果提示,我国儿童铅暴露所致MMR发病率高于西太平洋区的平均水平,应采取积极的措施降低儿童铅暴露水平.     

A prospective cytogenetic study of third-trimester placentae in small-for-date but otherwise normal newborns

Data in the literature suggest that confined placental mosaicism might be associated with intrauterine growth retardation. However, this association may be coincidental and due to bias of ascertainment. We therefore started a prospective study based on the cytogenetic evaluation of placentae derived from growth-retarded newborns. We further minimized possible bias by excluding those small-for-date infants displaying findings which already could explain intrauterine growth retardation (mothers who are smokers, multiple pregnancies, gestosis, dysmorphic infants). In a collection of 71 small-for-gestational age newborns, we did not see a single case of true confined placental mosaicism.     

Prenatal diagnosis of smith–lemli–opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7-dehydrocholesterol (7-DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7-DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7-DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.     

Prenatal diagnosis of the fragile-X in male monozygotic twins: Discordant expression of the fragile site in amniocytes

A prenatal diagnosis of the fragile-X syndrome in monozygotic male twins is reported. The expression of the fragile site was discordant in amniotic cells. Fetal blood and, after therapeutic abortion, skin fibroblasts were positive in both fetuses. Our data suggest that great care should be taken when using amniocytes for prenatal diagnosis of the fragile-X syndrome.     

Confined placental mosaicism in term placentae: Analysis of 125 cases

In order to determine the incidence of confined placental mosaicism (CPM) in term placentae and to show the presence of specific sites and the effect on fetal development, 125 placentae from uneventful pregnancies were analysed by cytogenetic methods. The incidence was at least 4.8 per cent and there were no specific sites on the placenta. Although the number of cases is still too small, we found CPM to be associated with intrauterine growth retardation in six cases.     

Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18

Cytogenetic analysis in three pregnancies revealed chromosomal mosaicism confined to chorionic villi. They were ascertained in the third trimester by intrauterine growth retardation (IUGR) in otherwise normal fetuses. In case of triple trisomy 6,21,22 and trisomy 16, it was obvious that these findings were most likely restricted to the placenta. These trisomies act as early lethal factors when they occur in the embryo itself. With trisomy 18, however, the interpretation of the cytogenetic finding remains ambiguous. The question arises as to whether an abnormal karyotype may be the cause of placenta insufficiency or is just coincidentally associated.