Prenatal diagnosis of the fragile X using thymidine induction

Eleven pregnancies in ten patients at risk for the fragile X were monitored by amniocentesis or chorion villus biopsy and induction of the fragile site using thymidine, methotrexate and FUdR. Three female fetuses and one male fetus were found to have the fragile X. The results obtained using thymidine induction were superior to those using methotrexate induction and probably better than those obtained using FUdR induction.     

Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report

Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.     

近期和长远时段内北极生态系统功能受到的影响

长期以来,就营养物质和碳循环而言,北极生态系统降低了初级生产力；能量,水和温室气体交换的水平已引起了局部和区域性的小幅度降温.大气CO2中的碳沉积在广袤而寒冷的有机土壤中,冰雪覆盖的低矮植被产生高的反射率,都影响了局部气候.然而,北极生态系统功能的许多方面都对气候变化及其产生的生物多样性影响敏感.当前的北极气候导致了低的有机物质分解速率,因此,尽管有机物和元素输入量较低,但北极生态系统还是趋向于积累有机物和元素,土壤中氮和磷等可利用元素结果成为促进碳固定以及生物量和有机物进一步积累的关键性限制因素.气候变暖可能增加特别是土壤中的碳和元素的周转,起初可能导致元素的丢失,但最后会慢慢的恢复.在北极生态系统中,单个物种和物种多样性已经明显地影响了元素的输入和滞留,另一方面,从长远来看,尽管CO2和紫外线增加对植物组织化学、分解和氮固定的影响可能变得重要,但对整个生态系统来说,影响可能很小.碳循环的示踪气体主要形式是CO2和CH4,大多数碳以CO2的形式损失,这些CO2是由植物和土壤生物产生.来自潮湿苔原生态系统以CH4形式释放的碳大约是CO2形式的5％,而且在没有任何其他变化的情况下,对变暖作出响应.冬天过程和植物类型也影响CH4释放和能量在生物圈和大气之间的交换,因为反射率从冬末到夏天存在很大的变化,在冬末,雪反射了入射的大部分光线,在夏天,生态系统吸收了入射的大部分光线,所以在所有的陆地生态系统中,北极生态系统在能量交换方面表现出巨大的季节性变化.植被深刻地影响北极生态系统水和能量交换.在冰雪覆盖期间,反射率从苔原、森林苔原、落叶林、常绿林依次降低.灌木和树增加了雪的深度,反过来又使冬天的土壤温度增加,因此,由气候变化而引起的未来植被方面的变化很可能深远地改变区域的气候.     

Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.