Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus

We report the detection of a mosaic triple trisomy, 46, XY/49, XY, + 13, +20, +21, in two amniotic fluid specimens obtained from a pregnancy that yielded a normal infant. Traditional cytogenetic methods failed to detect the abnormal cell lineage in fetal blood, foreskin, amnion, umbilical cord, and three different biopsies of the chorion. In addition, fluorescence in situ hybridization study of cells from a buccal smear showed no evidence of cells with three copies of chromosome 20.     

Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia

Assay of dihydropteridine reductase in amniotic cells from a fetus at risk for malignant hyperphenylalaninemia is described. A normal result was obtained, this was confirmed after delivery. On two-dimensional polyacrylamide gel electrophoresis the enzyme from amniotic cells showed the same mobility as the mature liver reductase.     

Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus

A single umbilical artery resulting from absence of the umbilical arteries and persistence of the vitelline artery that arises directly from the abdominal aorta has been described only in malformed fetuses with sirenomelia or caudal regression. Such an aberrant artery was suggested to be the etiology of sirenomelia caused by a ‘steal’ mechanism of blood flow from the caudal end of the embryo. We present a case in which prenatal ultrasound showed a similar aberrant single artery arising from the abdominal aorta in an otherwise normal fetus with a normal course of pregnancy. This vessel, a continuation of the superior mesenteric artery (SMA), corresponds to a persistent vitelline artery assuming the function of the umbilical arteries. The etiology of such a finding and its possible consequences are discussed. Copyright © 2002 John Wiley & Sons, Ltd.     

Persistently elevated AFP and AChE in amniotic fluid from a normal fetus following demise of its twin

Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18·5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (AChE) band. Persistently elevated AFP and positive AChE so long after fetal demise–-6·5 and 11 weeks post IUFD–-has not, to our knowledge, been previously described. In similar cases, high level ultrasound and careful placental examination at birth should be utilized to search for fetal abnormalities or multiple pregnancy with IUFD.     

Three-dimensional ultrasound in evaluating the fetus

In recent years three-dimensional (3D) ultrasound has made a place in clinical practice and has become a major field of research in obstetrics. In this article we will review the diagnostic performance of the most widely used 3D ultrasound applications in the assessment of fetal anomalies, explain the technique to gain correct 3D images and offer some practical advice for their efficient use. Examples are given to demonstrate the applicability and vividness of 3D in daily routine. Copyright © 2010 John Wiley & Sons, Ltd.     

The normal fetus of an acardiac twin pregnancy: Perinatal management based on echocardiographic and sonographic evaluation

Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem placental and fetal angiography, and umbilical cord blood gas determination provided proof that retrograde arterial perfusion occurs in the acardiac fetus. In a fourth pregnancy, an experimental approach to occlude the acardiac twin's umbilical cord was attempted, but was unsuccessful.     

弘文重教十余年的《文教资料简报》

创刊于1972年12月的《文教资料简报》是由南京师范学院(1984年易名为南京师范大学)内部编印的资料性月刊,主要目的是为文科教研服务。本文回顾该刊从创办至拥有统一刊号、从非正式出版物至成为正式出版物的历史沿革,具体观照该刊的编辑理念,总结该刊的内容特色、文献价值及经验启示。     

基于微生物生物完整性指数的北京市城市河道生态系统健康评价

生物完整性指数（IBI）是河道生态系统健康评价的重要且被广泛应用的指标,然而,基于水体中分解者微生物群落构建IBI评价标准的研究较少。针对北京市城市河道生态系统健康状况开展评价,探索微生物生物完整性指数(M-IBI)评价流程与标准构建方法。基于沉积物中微生物Illumina高通量测序信息,筛选出关键环境因子（水质指标TN、TP、NH₃-N、NO₃-N和NO₂-N）确定候选生物指标,根据判别能力分析结果,确定Shannon指数、拟杆菌门（Bacteroidota）相对丰度、绿弯菌门（Chloroflexi）相对丰度、蓝藻门（Cyanobacteria）相对丰度、COD_Cr耐受属相对丰度和NH₃-N清洁属相对丰度6个指标,提出了指标标准化公式和健康评价标准。结果表明,以自然水体为补水的永定河各采样点评价结果均为健康状态,其他3条以城镇再生水厂出水为补水的河道中,清河4个采样点为健康至亚健康状态,凉水河5个采样点为健康至一般状态,大龙河4个采样点为亚健康至一般状态。M-IBI可以有效区分不同程度的受损点位,较合理地评价城市河道生态系统健康状况。

     

Gene modification therapies for hereditary diseases in the fetus

Proof-of-principle disease models have demonstrated the feasibility of an intrauterine gene modification therapy (in utero gene therapy (IUGT)) approach to hereditary diseases as diverse as coagulation disorders, haemoglobinopathies, neurogenetic disorders, congenital metabolic, and pulmonary diseases. Gene addition, which requires the delivery of an integrating or episomal transgene to the target cell nucleus to be transcribed, and gene editing, where the mutation is corrected within the gene of origin, have both been used successfully to increase normal protein production in a bid to reverse or arrest pathology in utero. While most experimental models have employed lentiviral, adenoviral, and adeno-associated viral vectors engineered to efficiently enter target cells, newer models have also demonstrated the applicability of non-viral lipid nanoparticles. Amelioration of pathology is dependent primarily on achieving sustained therapeutic transgene expression, silencing of transgene expression, production of neutralising antibodies, the dilutional effect of the recipient's growth on the mass of transduced cells, and the degree of pre-existing cellular damage. Safety assessment of any IUGT strategy will require long-term postnatal surveillance of both the fetal recipient and the maternal bystander for cell and genome toxicity, oncogenic potential, immune-responsiveness, and germline mutation. In this review, we discuss advances in the field and the push toward clinical translation of IUGT.     

Normal blood cell values in the early mid-trimester fetus

Samples of pure fetal blood from 116 fetuses of 15–21 weeks' gestation were obtained by direct vision fetoscopy. Ninety nine of these fetuses, presumed to be haematologically normal, were suitable for analysis. The data obtained show that the erythropoietic system is evolving rapidly in this gestational age range. The myeloid series shows no significant increase or decrease in numbers apart from eosinophils and basophils which increase significantly with gestational age whereas the platelet count remains constant. The growing application of fetoscopic blood sampling to the prenatal diagnosis and management of fetal blood disorders renders mandatory a knowledge of normal fetal blood values.     

基于XBeach模型的离岸堤群防护效果评价指标

离岸堤等海岸防护工程会引起波浪的绕射和折射,改变海岸区域的水动力情况。针对XBeach模型进行扩展以提高波浪绕射作用下波浪场、流场和岸滩演变的预测精度,并利用双突堤绕射试验对模型进行验证,数值计算结果与实测结果吻合较好。同时开展了坡度为1∶50的理想平直海滩（含离岸堤）的演化数值试验,试验结果表明改进后岸滩演变更加合理。基于拓展的XBeach模型建立了考虑工程量的离岸堤群防护效果评价体系,同时在特定条件下对口门宽度及离岸堤高度对平直沙质海岸可能产生的影响进行了模拟和分析,并给出了该条件下的最优方案。所提出的指标区别于以往学者对离岸堤后沙质海滩的形态演变研究,具有较高的实际工程应用价值。     

Ultrasound demonstration of masses in a 15 week fetus: Hydrops in a fetus with umbilical cord occlusion

A fetal abnormality detected at 15 weeks by ultrasound consisted of cystic appearing masses in the neck and back region. The differential diagnosis included gonadal dysgenesis (Turner's syndrome) with cystic hygroma, neural tube defect, e.g. encephalocele or meningomyelocele, and fetal hydrops. Intrauterine fetal demise occurred at 17 weeks. The fetus had marked edema possibly related to umbilical cord occlusion.