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In a study of amniotic fluid from 91 Down's syndrome cases and 240 controls, we have shown that the median values of four biochemical markers (AFP, total hCG, free beta hCG, and unconjugated oestriol) in the amniotic fluid of pregnancies affected by Down's syndrome on the whole reflect those observed in the maternal serum of affected cases. The median MOM for AFP was lower than average (0·56), as was that for unconjugated oestriol (0·55), whilst those for total hCG (1·82) and free beta hCG (2·10) were increased on average. The width of the distribution of marker levels in amniotic fluid is similar to that in serum for free beta hCG and total hCG but between 1·5 and 2 times wider for unconjugated oestriol and AFP. Analysis of data by fetal sex showed a significantly higher median MOM in female control cases compared with male controls for the analytes free beta hCG, total hCG, and unconjugated oestriol, but not for AFP. Amongst the Down's syndrome cases, this trend was not statistically significant and we cannot confirm a previous study which reported that elevated levels of amniotic fluid total and free beta hCG were associated only with female fetuses. © 1997 by John Wiley & Sons, Ltd.
In a study of amniotic fluid from 91 Down's syndrome cases and 240 controls, we have shown that the median values of four biochemical markers (AFP, total hCG, free beta hCG, and unconjugated oestriol) in the amniotic fluid of pregnancies affected by Down's syndrome on the whole reflect those observed in the maternal serum of affected cases. The median MOM for AFP was lower than average (0·56), as was that for unconjugated oestriol (0·55), whilst those for total hCG (1·82) and free beta hCG (2·10) were increased on average. The width of the distribution of marker levels in amniotic fluid is similar to that in serum for free beta hCG and total hCG but between 1·5 and 2 times wider for unconjugated oestriol and AFP. Analysis of data by fetal sex showed a significantly higher median MOM in female control cases compared with male controls for the analytes free beta hCG, total hCG, and unconjugated oestriol, but not for AFP. Amongst the Down's syndrome cases, this trend was not statistically significant and we cannot confirm a previous study which reported that elevated levels of amniotic fluid total and free beta hCG were associated only with female fetuses. © 1997 by John Wiley & Sons, Ltd.
In women who have an increased Down syndrome risk in a first pregnancy there is a five‐fold greater chance of also having an increased Down syndrome risk in a second subsequent pregnancy. Similarly, in women who have a high alpha‐fetoprotein (AFP) level in the first pregnancy, suggesting an increased risk of a neural tube defect (NTD), there is also a five‐fold greater chance of them also having a high result in a second subsequent pregnancy. Such a biological association of serum marker levels between pregnancies suggests that there are additional maternal or genetic factors influencing the levels of these serum markers, other than the physiological factors which in themselves are poorly understood. In theory, it is possible to correct for high/low marker results in a previous pregnancy and to do so, I estimate, would reduce the overall Down syndrome screening false‐positive rate by about 0·2 per cent. There are insufficient data to make any prediction regarding the impact on detection rates. The small reduction in false‐positive rate is unlikely to be a feature worth implementing in Down syndrome screening programmes. © 1997 by John Wiley & Sons, Ltd.
Objective To assess the utility of biochemical antenatal screening for Down's syndrome in a socioeconomically deprived area with a high proportion of Asian women from the Indian Subcontinent. Design Audit of Down's syndrome biochemical screening service over a four-year period.Setting Teaching hospital and community antenatal clinic in inner city Birmingham.Population Women booked between October 1992 and December 1996. Methods Blood for screening was collected between 14 and 21 weeks gestation, alpha-fetoprotein and intact human chorionic gonadotrophin were measured in serum and the risk of Down's syndrome was calculated.Main outcome measures Uptakes of screening and amniocentesis, screen positive rate, odds of being affected given a positive result, miscarriages associated with amniocentesis offered following a high risk result, detection rate, number of Down's cases prevented and a cost analysis. Outcome measures were compared between Asians and Caucasians.Results Overall 1 1,974 women (71y0) accepted serum screening. The screen positive rate was 8.3% in Asians and 5.0% in Caucasians. The uptake of amniocentesis in women following a high risk result was 54% overall (35% Asian, 67% Caucasian). Nineteen cases of Down's syndrome were identified, of which 13 occurred in women who opted for biochemical screening. The detection rate of the biochemical screening programme was 85% (1 1/13). Of these 11 cases, six (none of whom were Asian) elected to have an amniocentesis, of whom four thereafter had a termination. ConclusionIn this study the public health benefits of screening for Down's syndrome in a socioeconomically deprived area with a high Asian population, were small.
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