First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

石英羟基水-分子水的分馏系数与常规混合水δD分析的关系

采集了 4个不同地区花岗岩石英、热液脉石英 ,分析其中包裹体分子水与结构羟基水的含量、包裹体分子水的δDinclusion、结构羟基水的δDOH,计算了结构羟基水 包裹体分子水之间的D/H分馏系数αOH inclusion。考查了混合水 (结构羟基水 +包裹体分子水 )δDwhole water与单独包裹体水δDinclusion之间的差别 ,分析了这种差别与分馏系数αOH inclusion的关系。结果表明 :花岗岩样品中两种水之间的分馏系数小 ,分馏程度大 ,在常规分析中 ,若采用测定混合水δDwhole water值代表实际流体 (包裹体水 )δDinclusion值时 ,二者间有较大的差异。热液石英脉样品总体来说分馏系数接近于 1,分馏程度小 ,常规分析中引起的二者之间差异小。常规的分析方法用于分馏程度小的热液脉石英是可行的 ,但进行花岗岩石英水的氢同位素分析时有必要区分出包裹体水与羟基水。     

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

The functionality of female reciprocal calls in the Iberian midwife toad (<Emphasis Type="Italic">Alytes cisternasii</Emphasis>): female-female acoustic competition?

Female midwife toads (genus Alytes) emit highly variable reciprocal calls of unclear function prior to and during courtship. In some species, female-female competition, expressed as physical fighting, has been reported. Males of Majorcan midwife toads (Alytes muletensis) show phonotactic response to female calls, and females of Iberian midwife toads (Alytes cisternasii) respond differently according to the male call characteristics. In this study, I test the hypothesis of female-female acoustic competition as an additional function of female reciprocal calls. Playback tests indicate that female calls are not clearly involved in female acoustic competition in the Iberian midwife toad, therefore female calls could be directed at males rather than towards competitive females.     

巴西亚马孙流域热带森林的开垦与大豆生产:以朗多尼亚州维列纳市为例

近来巴西大豆生产的增长引发了环境保护团体以及一些学者对于亚马孙盆地的热带自然环境正在向大豆种植地转换的关注.大豆生产的支持者则认为大豆是区域的一种可行性农产品;对于环境的关注是没有根据的,因为新的大豆种植地正在替代已经被砍伐的林地或者是转换了的土地.两种观点虽被提出却都没有对大豆生产扩充区的土地利用与土地覆被(LULC)状况进行过综合研究与估量.本案例研究是在巴西的朗多尼亚州,亚马孙盆地西南部的维列纳市(Vimena),通过遥感手段对1996～2001年以来该市大豆种植面积的大幅度增加所伴随的土地利用与土地覆被变化状况进行评估.结果表明虽然森林变成了大豆生产基地,但是大部分的大豆生产的增长归功于对已有土地的微量扩充、已伐林地的转换以及更高的单位产量.     

Initial Homotypic Cell Pair Adhesion in Regenerating Hydra Facilitates Subsequent Adhesion of Homotypic Cells

 In Hydra vulgaris at the level of dissociated single cells endodermal cells adhere to each other more readily than to ectodermal cells at the initial adhesion. The time required for adhesion to occur between two adjacent cells is shorter for both endodermal and ectodermal homotypic cell adhesions once the initial adhesion of the first pair of cells has been established. It is confirmed that contact of an aggregated pair with additional homotypic cells facilitates the occurrence of homotypic adhesions; heterotypic adhesions are discouraged. This suggests that adhesion of homotypic cells contributes to an increased readiness for subsequent homotypic cells to adhere. Received: 25 August 1999 / Accepted in revised form: 11 January 2000     

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.