The history of the second-trimester sonographic markers for detecting fetal Down syndrome,and their current role in obstetric practice

This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal. More recently the role of the genetic sonogram and its markers have changed with the wide spread use of first-trimester screening. This prior screening ultimately decreases the prevalence of fetal Down syndrome in the second trimester to less than 85% of what it was in the first-trimester as most fetuses with Down syndrome are now identified early. Current interpretation of the second-trimester Down syndrome markers must be based on the result of the first trimester and combined screening to achieve the most accurate risk estimate of an affected fetus. Copyright © 2010 John Wiley & Sons, Ltd.     

Second trimester ultrasound screening for chromosomal abnormalities

The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low-risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated α-fetoprotein and cystic renal changes

We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum α-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed the cystic renal disease and showed hepatic steatosis, raising the suspicion of a metabolic disorder. The diagnosis of MADD was made by immunoblot studies on cultured fibroblasts. In the subsequent pregnancy, a sonogram at 15 weeks' gestation showed an early growth delay but normal kidneys. The maternal serum and amniotic fluid concentrations of α-fetoprotein were elevated, and the amniotic fluid acylcarnitine profile was consistent with MADD. In vitro metabolic studies on cultured amniocytes confirmed the diagnosis. A follow-up sonogram showed cystic renal changes. These cases provide additional information regarding the evolution of renal changes in affected fetuses and show a relationship with elevated α-fetoprotein, which may be useful in counseling the couple at risk. MADD should be considered in the differential diagnosis of elevated α-fetoprotein and cystic renal disease. Early growth delay may be an additional feature. Copyright © 2001 John Wiley & Sons, Ltd.     

Role of the second-trimester ‘genetic sonogram’ for Down syndrome screen in the era of first-trimester screening and noninvasive prenatal testing

Ultrasonography for the screening of Down syndrome was first introduced about 25 years ago. Different combinations of markers detectable at second-trimester ultrasonography have been proposed under the banner of ‘genetic sonogram’. In recent years, several developments in first-trimester screening and the recent introduction of noninvasive prenatal testing for aneuploidy screening have had important implications for the prevalence of these conditions in the second-trimester and the screening performance of a genetic sonogram. Several second-trimester sonographic markers for Down syndrome have been reported; meta-analysis has shown that the most powerful predictors are mild ventriculomegaly, increased nuchal fold, hyperechoic bowel, and absent or hypoplastic nasal bone. Whereas use of individual markers should be discouraged and scoring systems of multiple markers are now obsolete, use of combined likelihood ratio and logistic regression analysis formulae provides better accuracy. However, there is significant heterogeneity in results among studies. Despite such limitations, the genetic sonogram will continue to have a place in prenatal screening, particularly in twin and higher-order multiple pregnancies, in countries with limited access to the most recent genetic screening tests, in cases with borderline results at maternal serum screening tests, and as noninvasive supplementary test for high-risk women reluctant to undergo invasive diagnostic testing. © 2014 John Wiley & Sons, Ltd.     

Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.     

Maternal environment and the expression of murine neural tube defects

The role that genetic and environmental factors play in triggering neural tube defects in the mouse mutant curly-tail (ct) were investigated by transplanting curly-tail blastocysts into the uterus of either curly-tail females or females of an unrelated A strain with a low natural incidence of abnormalities of the neural tube. The percentages of fetuses with neural tube defects were found to be similar in both groups. These results show that in curly-tail mice exencephaly and spina bifida are manifested independently of the maternal environment.     

Cystic hygroma and congenital diaphragmatic hernia: Early prenatal sonographic evaluation of Fryns' syndrome

We report a case of cystic hygroma and diffuse lymphangiectasia detected by sonogram at 12 weeks' gestation. Fetal karyotype was normal. At 20 weeks' gestation, herniation of the bowel into the chest was noted. At delivery, the infant was diagnosed as having Fryns' syndrome. This is the first reported case of Fryns' syndrome presenting with cystic hygroma.     

Sonographic markers of exencephaly below 10 weeks' gestation

We report two cases of exencephaly diagnosed by transvaginal ultrasonography at 8 weeks 4 days and at 9 weeks 3 days of gestation. Both cases presented an irregular cephalic pole, and, in the case seen at 8 weeks 4 days, brain vesicles were also absent, whereas in the case seen at 9 weeks 3 days, the midline echo was indistinguishable with disorganized choroid plexuses. In both cases, anencephaly was evident at 11 and 12 weeks' gestation and the postmortem confirmed the diagnosis. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis and perinatal management of a fetal ovarian cyst

A case of a prenatally diagnosed fetal ovarian cyst is presented. The pregnancy was complicated only by polyhydramnios, and some degree of fetal bowel obstruction could be recognized on sonogram. The newborn was delivered vaginally in the 39th week of pregnancy, and the cyst was removed by laparotomy on the day of the delivery. The etiology of this rare fetal condition is unknown.     

Undiagnosed heterotopic pregnancy,maternal hemorrhagic shock,and ischemic stroke in the intrauterine fetus

Heterotopic pregnancy occurs rarely following natural conception; however, intrauterine embryo transfer following in vitro fertilization is a known risk factor for its occurrence. A 29-year-old woman presented with acute abdomen at 14w5d gestation following in vitro fertilization–embryo treatment. A ruptured heterotopic gestation in the left fallopian tube was identified at laparoscopy and treated by salpingectomy. Subsequently, at 21-week gestation, routine sonogram demonstrated bilateral ventriculomegaly in the intrauterine fetus. Fetal magnetic resonance imaging was highly suggestive of ischemic brain injury, most likely attributable to the maternal hypovolemic shock because of ruptured heterotopic gestation. The pregnancy was terminated by intracardiac injection and induction of labor. Timely diagnosis of heterotopic pregnancy requires a high index of suspicion as diagnostic delays can have catastrophic consequences for the mother and/or the intrauterine fetus. © 2015 John Wiley & Sons, Ltd.     

Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.     

Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.     

Hyperechoic fetal bowel: The perinatal consequences

A number of publications have reported an association between the finding of hyperechoic fetal bowel on prenatal sonogram and disorders such as aneuploidy and cystic fibrosis. To define more precisely the significance of this finding, we systematically reviewed the published material on the subject. Based on a total of 357 reported cases, we documented a high prevalence of cystic fibrosis (25·6 per cent) and chromosome abnormality (12·4 per cent) associated with increased bowel echogenicity in the fetus. High rates of intrauterine growth retardation (14·9 per cent), fetal demise (9·0 per cent), and prematurity (15·3 per cent) were also found. The data were obtained from a population at high a priori risk for aneuploidy and included fetuses at 1 in 4 risk for cystic fibrosis reported in two studies. This increased the bias towards an adverse outcome. The rate of complications when a hyperechoic abdomen is noted in a low-risk fetal population has so far not been delineated. Although the high frequency of complications found is of concern and warrants investigation, extrapolation of these risk figures to a fetal population at low a priori risk may not be appropriate.     

The significance of trisomy 7 mosaicism in chorionic villus cultures

Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46, XY. Culture metaphases were mos46,XY/47,XY, + 7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 15¹/₂ weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY, + 7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.     

综合实践活动课程的德育功能

本文从一个新的视角对综合实践活动的课程价值进行了解读,强调德育功能是课程价值的一个重要方面。综合实际活动坚持回归生活、注重体验的德育理念,突出了实践性,对于思想政治教育的改革与创新其有促进作用。认为应该将思想政治课教学与发挥综合实践活动的德育功能紧密结合起来,建立认知性德育与实践性德育紧密结合的德育新体系。     

新型絮凝剂SFC在污泥脱水中应用的研究

向污水处理厂的剩余污泥中投加相对于干污泥重量0.5％的SFC,在0.4bar的真空度下过滤,污泥的合水率由99.5％降至75％,污泥的体积降至原来的1/50,燃烧热值增大70倍,污泥比阻减少一倍多,而且泥饼的剥离性能好,滤液澄清度高.     

利用污泥残渣制备生物絮凝剂及其絮凝机理的探讨

考察了由污泥残渣制备生物絮凝剂的条件,同时对其絮凝机理进行了初步的探讨。结果表明,絮凝剂的最佳制备条件为:污泥残渣浓度100 g/L,处理方式为水洗,水洗次数为3次。该絮凝剂具有良好的热稳定性和pH稳定性,储存100 d内,絮凝剂的絮凝活性均保持在94%以上;对其成分分析的测定结果表明该絮凝剂的主要成分为多糖类物质;絮凝剂与高岭土颗粒之间通过离子键结合;利用扫描电镜观察絮体形态,发现其结构密实,有利于絮体沉降。推测其絮凝机理为絮凝剂和高岭土之间首先以离子键结合,然后通过吸附架桥作用絮凝沉淀。     

陕西省环保投资绩效DEA实证分析

为优化环保投资结构,有效使用环保投资,借助于数据包络分析方法 (DEA)对陕西省2002～2009年的环保投资绩效进行实证分析。实证分析结果表明,这些年陕西省环保投资技术效率的均值为0.985,其在规模效率上处于规模合理或规模递增阶段占75%,在技术效率上处于最佳和有效状态的占75%。说明陕西省环保投资绩效保持在一个较好的水平,但陕西省环保投资还没有充分发挥作用,环保投资对经济发展和社会进步的贡献偏低,人才队伍建设力度水平亟待提高。陕西省政府可采取一些措施使陕西环保绩效进一步提高。     

纳帕海湿地生态系统功能与服务价值评估研究

在对纳帕海湿地概况及退化动因进行解析的基础上,系统介绍了纳帕海湿地生态系统功能,定量评价了1981～2001年纳帕海湿地生态系统服务价值的变化情况。研究结果显示：1981年,纳帕海湿地生态系统服务价值总量为15.64亿元,2001年降低至1.33亿元。20a来,纳帕海湿地生态系统服务价值总量下降了91.5%。其中,下降幅度最大的为废物处理功能29%,其次为气候调节27.3%,第三为水源涵养24.7%,原材料下降幅度最小0.1%。鉴于此,为了保护纳帕海湿地资源,实现其可持续发展,应加强认识,适度控制旅游规模;严格执法,不断完善湿地保护体制机制;科学管理,引导湿地资源的合理利用。     

三沟式环形氧化沟应用前景浅探

叙述在我国石化系统污水处理过程中采用的第一套新型的三沟式环形氧化为，即融曝气与沉淀于同一构筑物内的基本布置、运行方式，并通过设计提供的资料及参数进行计算、复核其运行状况和处理效果及存在问题，结合本公司现状探讨其应用前景。