Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative european study on 52 965 amniocenteses

Maternal age specific rates for all major chromosome aberrations have been determined in 52 965 pregnancies in mothers 35 years of age and over at the time of amniocentesis. Rates increase exponentially with advancing maternal age for trisomies 21, 18 and 13, and for the XXX and XXY syndromes, but in the autosomal trisomies this rise appears to be followed by a levelling off at the upper end of the age range. A significant inverse relationship with maternal age is found for 45,X cases. It is postulated that these various patterns are the result of the interaction of three principal factors: a maternal age effect acting particularly on first meiotic nondisjunction: a higher spontaneous abortion rate with advancing maternal age for aneuploid as compared to euploid conceptions; and an increased probability of spontaneous abortion before the time of amniocentesis for conceptions with more extensive chromosome imbalance. A stepwise logistic regression analysis of 13 299 pregnancies in which both parental ages are known shows that the father's age does not influence these maternal age specific rates, with the possible exception of the 47,XXY syndrome.     

Maternal age-specific risks for trisomies at 9—14 weeks' gestation

This study provides data on the incidence of fetal trisomies 21, 18, and 13 at 9–14 weeks' gestation in women aged 35–45 years and estimates of maternal age-specific risks in women aged 20–45 years. Our data from 5814 singleton pregnancies undergoing first-trimester karyotyping for the sole indication of maternal age ⩾ 35 years were combined with those from two previous reports and the incidence of the trisomies was calculated from a total of 15 793 pregnancies. Comparison of incidences at 9–14 weeks' gestation with published data at 15–20 weeks' gestation and in livebirths demonstrated that at birth the maternal age-specific incidence of trisomy 21 is 33 per cent lower than at 15–20 weeks' gestation and 54 per cent lower than at 9–14 weeks' gestation. Furthermore, the relative frequency of trisomies 18 and 13 decreases from 30 per cent at 9–14 weeks to 22 per cent at 15–20 weeks and 14 per cent at birth.     

Adaptive-filtering of trisomy 21: risk of Down syndrome depends on family size and age of previous child

The neonatal incidence rate of Down syndrome (DS) is well-known to accelerate strongly with maternal age. This non-linearity renders mere accumulation of defects at recombination during prolonged first meiotic prophase implausible as an explanation for DS rate increase with maternal age, but might be anticipated from chromosomal drive (CD) for trisomy 21. Alternatively, as there is selection against genetically disadvantaged embryos, the screening system that eliminates embryos with trisomy 21 might decay with maternal age. In this paper, we provide the first evidence for relaxed filtering stringency (RFS) to represent an adaptive maternal response that could explain accelerating DS rates with maternal age. Using historical data, we show that the proportion of aberrant live births decrease with increased family size in older mothers, that inter-birth intervals are longer before affected neonates than before normal ones, and that primiparae exhibit elevated levels of DS incidence at higher age. These findings are predicted by adaptive RFS but cannot be explained by the currently available alternative non-adaptive hypotheses, including CD. The identification of the relaxation control mechanism and therapeutic restoration of a stringent screen may have considerable medical implications.     

循环式活性污泥法中厌氧生物选择区的运行条件研究

研究了循环式活性污泥法中厌氧生物选择区的停留时间、进水有机物浓度和系统中泥龄、曝气时间等运行参数对选择区内厌氧释磷以及有机物的吸收贮存的影响。结果表明，选择区停留时间lh，系统泥龄5d，曝气2h，进水有机物浓度COD／TP=60--70，选择器中释磷效果及微生物的吸附性能最优，可去除进水中78％的COD。而且污泥沉降性能良好，试验运行过程中，SVI一直保持在30--40ml／g左右。     

欧亚大陆东南缘大陆地壳基底研究与展望

本文从不同方面和断代论述了中国东南地区的基底杂岩时代、性质、构造环境、边界变质条件、地球物理场及其反映的构造格局、断裂体系、中生代火山活动的基底构造及类型分区。在此基础上提出了东南地区的构造划分及构造演化阶段和格局。并提出了不同类型的地体及其分类、大陆裂解、增生的新概念。     

江西南部鹤仔片麻状花岗岩类Pb-Pb同位素年龄及地质意义

江西南部鹤仔一带的片麻状花岗岩体是在武夷山西南坡江西境内发现的最古老的片麻状花岗岩体.选取晶形好,无磁性锆石进行了Pb-Pb同位素年龄测定,获得片麻状黑云母二长花岗岩体1848±20Ma、1774±20Ma,片麻状花岗闪长岩体为996±29Ma.它对进一步认识该区"中条"至"晋宁"期岩浆活动构造背景,中深变质岩时代确定等具有一定的意义.     

Estimating the risk of a fetal autosomal trisomy at mid-trimester using maternal serum alpha fetoprotein and age: A retrospective study of 142 pregnancies

Risks appropriate for mid-trimester prenatal screening for autosomal trisomies have been estimated from a combination of maternal age and maternal serum (MS) alpha-fetoprotein (AFP) levels at 16–20 weeks gestation. Published data on the frequency of Down's syndrome births relative to maternal age were modified to include the additional age-related frequency of trisomy 18 and trisomy 13 cases to provide an overall risk for an autosomal trisomy at midtrimester. MSAFP results from a retrospective study of 142 affected (114 trisomy 21, 19 trisomy 18, and 9 trisomy 13)and 113 000 unaffected pregnancies were converted to multiples of the appropriate gestational median (MOM). The AFP levels in the autosomal trisomy pregnancies were found to be significantly reduced at 0.72 MOM of the unaffected pregnancies. Risks (likelihood ratios) were derived from the overlapping log Gaussian distributions for affected and unaffected pregnancies and combined with maternal age risks to give the overall odds of an affected pregnancy. A mid-trimester cut-off risk of 1:280 gave an estimated 37 per cent detection rate for autosomal trisomies in the west of Scotland population for a follow-up (false-positive) rate of 6.6 per cent. These figures compare with a 30 per cent detection and 6.7 per cent false-positive rate if age 35 years and over is used as the sole criterion for selection of at-risk pregnancies.     

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age

One hundred and fifty-one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.     

新疆尼勒克南部地区花岗斑岩锆石U-Pb年龄

对巴斯陶萨依、莫斯早特套花岗斑岩地质、地球化学特点,锆石的特征进行了详细的研究和单颗粒锆石U-Pb同位素年龄测定。获得巴斯陶萨依岩浆结晶锆石U-Pb同位素年龄为241.3±3.6 Ma,以及继承性锆石U-Pb同位素年龄为292.3±5.6 Ma。综合各方面因素认为这两个岩体侵位时代为早三叠世(印支早期)。     

湖北黄梅乱泥滩花岗岩体的同位素年龄及成因初析

黄梅乱泥滩花岗岩侵入年龄为124.1Ma,完全冷却暴露地表年龄为80Ma,据岩石化学、稀土元素地球化学、~(87)Sr/~(86)Sr初始比值、∈Nd值、δ~(18)0值等综合分析,均显示该岩体具有“S”型花岗岩类的特征,其原始物质来自地壳。岩浆侵位深度为4.8km,结晶温度为798℃,氧逸度fO_2=1×10~(-11)a,压力P=6.57×10~8Pa岩体侵位时处于张性构造环境的陆内碰撞带。