First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders

The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p >0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers.     

Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin,alpha-fetoprotein,and age

Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 multiples of the normal median. Significantly reduced hCG concentrations were found in a group of four trisomy 18 pregnancies (all less than 0.4 multiples of the median). Eight cases of unbalanced chromosome rearrangements appeared to show some lowering of hCG levels, while there was no significant difference in the levels in the cases of trisomy 13, balanced translocations, and sex chromosome abnormalities. Maternal serum hCG alone is a better indicator of Down's syndrome pregnancies than maternal age or maternal serum alpha-fetoprotein (AFP), either individually or in combination, and provides a further virtually independent measure of risk. On the basis of our findings, screening for Down's syndrome using hCG and AFP results combined with maternal age risks is predicted to result in a higher detection rate (57 per cent) for a lower false-positive rate (5.0 per cent) than would be attainable by combined AFP and age screening (37 per cent detection at a 6.6 per cent false-positive rate).     

A cost-benefit analysis of a population screening programme for neural tube defects

Population screening for neural tube defects is possible by measuring maternal serum alpha-fetoprotein levels with appropriate follow-up as required. British Columbia has approximately 39 000 births annually and the incidence of neural tube defects is 1–55 per 1000 births (0–94 per 1000 livebirths). Results from a cost-benefit analysis suggest that the outlined screening programme would be cost-beneficial for British Columbia. Other important factors essential to consider before instituting a population screening programme are discussed.     

Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities

The alpha subunit of human chorionic gonadotropin (alpha-hCG), human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) were measured in the serum of 25 women with chromosomally abnormal fetuses between 18 and 25 weeks of gestation and in 74 normal pregnancies. AFP levels less than 0.5 multiples of the median (MoM) or greater than 2.5 MoM were observed in 24 per cent of the abnormal pregnancies and in 6.76 per cent of the normal pregnancies. A low concentration of hCG (< 0.25 MoM) was observed in 8 per cent of abnormals and in 2.7 per cent of normals while an elevated concentration of hCG (>2.5 MoM) was observed in 56 per cent of abnormals and in 1.35 per cent of normals. Elevated hCG-alpha (>2.5 MoM) was observed in 28 per cent of abnormals and in none of the normals. Determination of elevated levels of hCG-alpha or hCG resulted in detection of 68 per cent of pregnancies with chromosomally abnormal fetuses with a false positive rate of 1.35 per cent. Determination of both elevated and depressed gonadotropin levels resulted in detection of 76 per cent of abnormal pregnancies with a false positive rate of 4.05 per cent. Measurement of hCG and hCG-alpha in maternal serum samples can be used as a screening procedure for detecting pregnancies at risk for fetal chromosome abnormalities.     

Value of maternal serum unconjugated oestriol measurement in prenatal screening for Down's syndrome

We compared the medical and financial cost-effectiveness of prenatal serum screening for Down's syndrome using maternal age, serum alpha-fetoprotein and human chorionic gonadotrophin with and without the use of unconjugated oestriol. The use of unconjugated oestriol is medically more cost-effective than screening without it at all levels of detection. The actual performance depends on whether gestational age is estimated using ‘dates’ or an ultrasound scan. At a detection rate of 60 per cent, the proportion of unaffected fetal losses per case diagnosed at amniocentesis is about 22 per cent less if gestational age is estimated using dates (time since the first day of the last menstrual period) and about 47 per cent less if it is based on an ultrasound scan examination. At this detection rate, the inclusion of unconjugated oestriol increases costs by about £2k per case diagnosed (£36k instead of £34k) if gestational age is estimated using dates, but it is no more expensive if gestational age is measured from an ultrasound scan examination (indeed, it is more cost-effective at detection rates above 60 per cent). Since there is little change in the financial cost with the inclusion of unconjugated oestriol, for the improved medical performance of screening, it is worthwhile including it in the screening test.     

Maternal serum CA 125 levels in pregnancies with chromosomally-normal and -abnormal fetuses

We measured the maternal serum cancer antigen 125 (MS-CA 125) levels in 98 nonpregnant women, 765 first- and second-trimester pregnancies with chromosomally-normal fetuses, and 54 chromosomally-abnormal pregnancies. To determine the MS-CA 125 concentration, we used a new automated microparticle enzyme immunoassay with low inter-assay variability. The median MS-CA 125 level decreased from the first to the second trimester of pregnancy and was higher than that in non-pregnant women. We found no difference between normal and Down's syndrome (n = 29) pregnancies ( t-test: t = 0·57, p >0·5). The MS-CA 125 levels in pregnancies with other chromosomal abnormalities showed no difference either, compared with the normals. We conclude that MS-CA 125 is not a useful marker for fetal Down's syndrome, nor for other chromosomal disorders in pregnancy.     

Human maternal uniparental disomy for chromosome 16 and fetal development

Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two-vessel cord on ultrasound, and cessation of growth at 25 weeks. At post-mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities.     

Maternal serum free α- and free β-human chorionic gonadotrophin in pregnancies with insulin-dependent diabetes mellitus: Implications for screening for Down's syndrome

A study was performed to investigate the concentrations of the α and β free sub-units of human chorionic gonadotrophin (free α-hCG and free β-hCG) in maternal serum between 15 and 22 weeks of pregnancy in 126 pregnancies among 92 women with insulin-dependent diabetes mellitus (IDDM). Each IDDM pregnancy was matched with two control singleton pregnancies for gestational age (same completed week) and duration of sample storage (same calendar quarter). The median free α-hCG level in the IDDM pregnancies was 0·86 multiples of the median (MOM) for pregnancies without IDDM at the same gestational age (P<0·002) (95 per cent confidence interval 0·80–0·94). The corresponding free β-hCG level was 0·96 MOM (95 per cent confidence interval 0·85–1·09). These results enable free α-hCG values to be adjusted so that antenatal screening for Down's syndrome can be performed using this marker in IDDM pregnancies as well as in non-diabetic pregnancies.     

化学萃取技术在重金属污染土壤修复中应用的研究

用HCl、Na2 EDTA、柠檬酸作为萃取剂在不同的萃取条件下对湘潭锰矿污染土壤进行萃取实验 ,研究 3种萃取剂对土壤中 3种重金属Mn、Pb和Cd的萃取效率。该研究表明 ,浓度是影响重金属萃取效率的主要因素     

Role of NADH-dependent chromium reductases,exopolysaccharides and antioxidants by Paenibacillus thiaminolyticus PS 5 against damage induced by reactive oxygen species

ABSTRACT

Cr (VI) being used in various activities of industries and its improper treatment lead to contamination of environment. Among different methods, biological is the most efficient method to control pollution from soils affected with metals. Present study was designed to assess the role of Paenibacillus thiaminolyticus PS5 for adsorption, Cr (VI) reduction and mechanism of reduction. Sorption of chromium (VI) by strain PS5 was obtained by batch equilibrium method. Cr (VI) reduction in both free and immobilised cells were evaluated by 1,5-Diphenyl Carbazide method. The formation of biofilm by Paenibacillus thiaminolyticus PS5 was observed for colour change as well as quantified spectrophotometrically. Analysis kits were used to measure the amount of eDNA, superoxide and malondialdehyde (MDA). Metal resistant strain PS5 was characterised as P. thiaminolyticus using 16S rRNA gene sequence. Maximum biosorption of Cr (VI) by strain PS5 was found at pH 6–8 and 100–400 µgCr/mL within 24 hours of incubation. Complete reduction of Cr (VI) by strain PS5 was achieved at pH 6–8 and100–300 µg/mL Cr (VI). Paenibacillus thiaminolyticus PS5 immmobilisation on sodium alginate and polyvinyl alcohol facilitated complete reduction of Cr (VI) within 18 hours due to the formation of more biofilm under metal stress conditions. Strain PS5 reduced almost all Cr (VI) into Cr (III) in supernatant, most of which was immobilised by cell debris. Experiments confirmed the reduction of Cr (VI) by cytosolic cell-free extracts which is a mechanism of detoxification. The release of exopolysaccharides and antioxidants by strain PS5 played a protective role against cell damage by Cr (VI) as Cr (VI) could not release the significant amount of eDNA, superoxide and MDA. The present study proved strain PS5 to be a super bioinoculant which has great capacity for adsorption, biotransformation and can activate cytosolic reductases, exopolysaccharides and antioxidants against oxidative damage.