Prenatal diagnosis in a female carrying a deletion close to the duchenne locus

Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA anaylsis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.     

The dilemma of chromosomal mosaicism in chorionic villus sampling—‘direct’ versus long-term cultures

Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.     

Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS,amnion- and placental culture

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.     

宁波杭州湾新区河网水动力及水质数值模拟研究

针对杭州湾新区水环境污染较重的现状,采用MIKE11软件构建新区河网的一维水动力——水质耦合模型,在此基础上研究分析了现状及远期规划排污条件下河网水质分布.结果表明:河道内水体流动较弱,不利于污染物迁移扩散,污水处理厂排出的处理水对排污口周围的河道的水质影响范围和程度均较大,叠加本底浓度后许多区域超过了Ⅴ类水质标准.最后提出了针对性措施以改善新区河网水质.