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311.
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.  相似文献   
312.
A case is described of the prenatal diagnosis of choroid plexus cysts at 17 weeks' gestation which persisted beyond 36 weeks but could not be detected after delivery. At birth the child was found to have trisomy 18.  相似文献   
313.
We describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 161 and 19-5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia.  相似文献   
314.
 Two main types of joints occur in the damselfly wing: mobile and immobile. Some longitudinal veins (RP2, RP3&4, and MP) are elastically joined with cross veins, whereas other longitudinal veins (IR1+, IR2+, MA+, CuA'+) are firmly joined with cross veins. In this study we mapped the distribution of serial elastic elements in the wing. The occurrence of resilin, a rubberlike protein, in mobile joints suggests that the automatic twisting mechanism of the leading edge by aerodynamic force works not by flexibility but by the elasticity of these joints. First, it should result in elastic energy storage in the distal areas of the wing. Second, serial elastic elements of wing presumably act as dampers of an aerodynamic force, which are responsible for gradual twisting of the leading edge. Received: 16 March 1999 / Accepted in revised form: 26 August 1999  相似文献   
315.
While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth.  相似文献   
316.
Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6-5 years revealed normal physical and intellectual development in both children.  相似文献   
317.
Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.  相似文献   
318.
319.
刘琴  吕锡武  王阿华 《环境科技》2005,18(4):19-20,23
江宁开发区污水处理厂建设规模为4万m^3/d,分两期建成,采用氧化沟处理工艺,污泥处理采用不经消化的带式脱水工艺。在此主要叙述了各工艺构筑物的设备配置、功能、设计参数及二期工程的试运行情况。  相似文献   
320.
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