Transabdominal chorionic villus sampling: Fetal loss rate in relation to maternal and gestational age

In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing gestational age at sampling from 4.3 per cent before 9 weeks to 0.4 per cent at or after 13 weeks, the difference being statistically significant (p <0.025). The fetal loss rate increased from 1.6 per cent in women under 30 to 2.4 per cent in women of 40 years or over, but the difference was not statistically significant. Considering that the total fetal loss rate before 28 weeks' gestation was on average 1.91 percent (1.3 per cent under 35 years and 2.8 per cent in women of 35 or over), we believe that TA-CVS is a safe and effective technique for prenatal diagnosis of genetic diseases.     

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL,CLN1)

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.     

Transabdominal villus sampling in early second trimester: A safe sampling method for women of advanced age

Transabdominal chorionic villus sampling (TA-CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37·9 years); gestational age varied between 10·2 and 18·3 weeks (mean 13·3 weeks). In 639 women (90·4 per cent), a sufficient amount of chorionic tissue (⩾ 10 mg) was obtained after one needle insertion; in 66 women (9·3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2·9 per cent). Vaginal bleeding or spotting within 28 days after TA-CVS occurred in 11 cases (1·5 per cent). The completed follow-up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2·6 per cent before 28 weeks. The overall perinatal mortality was 0·9 per cent. When relating fetal loss to gestational age at TA-CVS, this was 6·6 per cent in women sampled before 12 weeks against only 1·8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA-CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.     

First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects

The aim of this study was to determine the efficacy of combined maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9·8 per cent) had either an MSAFP multiple of the median ⩽0·5 or an MShCG β/a z ratio multiple of the median ⩽ 0·25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down' s syndrome and 83 per cent with trisomy 18 were detected at a potential‘cost’ of providing chorionic villus sampling or amniocentesis in 8·6 percent of women screened.     

Open-path tunable diode laser absorption spectroscopy for acquisition of fugitive emission flux data

Air pollutant emission from unconfined sources is an increasingly important environmental issue. The U.S. Environmental Protection Agency (EPA) has developed a ground-based optical remote-sensing method that enables direct measurement of fugitive emission flux from large area sources. Open-path Fourier transform infrared spectroscopy (OP-FTIR) has been the primary technique for acquisition of pollutant concentration data used in this emission measurement method. For a number of environmentally important compounds, such as ammonia and methane, open-path tunable diode laser absorption spectroscopy (OP-TDLAS) is shown to be a viable alternative to Fourier transform spectroscopy for pollutant concentration measurements. Near-IR diode laser spectroscopy systems offer significant operational and cost advantages over Fourier transform instruments enabling more efficient implementation of the measurement strategy. This article reviews the EPA's fugitive emission measurement method and describes its multipath tunable diode laser instrument. Validation testing of the system is discussed. OP-TDLAS versus OP-FTIR correlation testing results for ammonia (R2 = 0.980) and methane (R2 = 0.991) are reported. Two example applications of tunable diode laser-based fugitive emission measurements are presented.     

Improving the extraction of tetrachloroethylene from soil columns using surfactant gradient systems

In this work, we extend the recently developed gradient approach for surfactant-enhanced remediation of dense non-aqueous phase liquid (DNAPL)-impacted sites. The goal of the gradient approach is to maximize the DNAPL solubilization capacity in swollen micelles (Type I aqueous microemulsions) while at the same time minimizing the potential for DNAPL mobilization. In this work, we introduce a modified version of the capillary/trapping curve that we refer to as the gradient curve to help interpret and/or design the gradient approach. The gradient curve presents the residual DNAPL saturation as a function of interfacial tension and microemulsion viscosity. This approach demonstrates that keeping a low viscosity of the microemulsion phase is not only important for keeping a low head loss during surfactant flooding but also to prevent oil mobilization. Eight microemulsion systems were evaluated in this research; these systems were evaluated based on their tetrachloroethylene (PCE) solubilization capacity, interfacial tension (IFT), viscosity, density, and coalescence kinetics. Two of these systems were chosen for evaluation in site-specific column tests using an increasing electrolyte gradient to produce a decreasing IFT/increasing solubilization gradient system. The column studies were conducted with media from Dover Air Force Base in Dover, DE. Both solubilized and mobilized DNAPL were quantified. During the column studies, we observed that substantial PCE was mobilized when the residual level of PCE in the column was significantly higher than the steady-state residual saturation level being approach (as predicted from the gradient curve). Four column studies were performed, three of which were used to asses the validity of the gradient curve in predicting the residual saturation after each gradient step. From these tests we observed that starting IFTs of less than 1 mN/m all produced the same mobilization potential. In the last column, we used an additional gradient step with an initial IFT above 1 mN/m to dramatically reduce the amount of PCE mobilize. Based on the good agreement between column results and projections based on the gradient curve, we propose this as a preferred method for designing gradient surfactant flushing systems.     

A cost worth paying: energetically expensive interactions with males protect females from intrasexual aggression

When approached by males, females of the Amarillo fish (Girardinichthys multiradiatus) perform a behaviour called vibration or they are aggressively challenged. We quantified vibration and assessed whether it compromises the rate of feeding attempts in dyads kept in outdoor enclosures. Male approaches resulted in female vibration and in a reduced feeding rate. Vibration was not evoked by female–female aggression, which was frequent and always ended in the subordinate fleeing from the dominant female. Using a closed respirometer we found that vibration is costly; oxygen consumption of females was greater in the presence of a male (which evoked vibration) than in the presence of a non-familiar female (when no vibration occurred). By recording interactions of females confined in aquaria in the presence and in the absence of males, we confirmed that escaping is the only available response to deal with female aggression. Females kept without males participated in frequent aggressive (even lethal) interactions that did not abate while the subordinate female was in sight of the dominant, and which caused premature births and injuries. Yet in the alternative treatment aggression ceased when a male approached, prompting vibration in both females. Thus, in the Amarillo, in as much as it evokes energetically costly female vibrations, male courtship is an expression of sexual conflict. However, in the absence of males, frequent female aggression potentially annuls the benefits of not vibrating. We propose that a complete appraisal of the consequences of sexual conflict must include an assessment of the costs imposed by intra-sexual interactions.     

Comparison of chorionic villus sampling and amniocentesis: Current status of prenatal diagnosis in Japan

Data were tabulated and compared for cases involving prenatal diagnostic procedures performed in the 8 years between January 1985 and December 1992. Of a total of 2781 pregnancies, 2546 cases (91·5 per cent) were diagnosed by amniocentesis, and 235 (8·5 per cent) by chorionic villus sampling (CVS). These findings reflect the fact that amniocentesis has taken deep root as the prenatal diagnostic procedure widely acknowledged by society, whereas even the existence of CVS has yet to be generally recognized. Analysis of our clinical and laboratory results and complication rates, however, suggests that CVS is a safe and accurate alternative to amniocentesis which should and can be positively presented to all patients who are candidates for prenatal diagnosis.     

Umbilical cord haemangioma associated with an eruptive cutaneous haemangioma in a female infant

We report a female infant noted prenatally to have an umbilical cord mass. At birth, a labial strawberry haemangioma was noted. She subsequently developed an abdominal mass which was discovered to be a proliferating haemangioma, continuous with both the labial and the umbilical stump lesions.     

45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.