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Biomedical subjects

K Spencer

Publications and source records attributed to K Spencer.

At least 109 records · Page 6Linked to original sources
PubMed1996

Free beta hCG screening of hydropic and non-hydropic Turner syndrome pregnancies.

Fourteen cases of Turner syndrome (45,X), two cases of mosaic Turner syndrome (45,X/47,XXX and 45,X/ 46,XX), and one case of Turner syndrome involving an isochromosome X [46,X,i(X)(q10)] were ascertained by prenatal maternal serum alpha-fetoprotein (MSAFP) and free beta human chorionic gonadotropin (hCG) screening or by ultrasound. Patient-specific risks for Down syndrome were calculated and used as the criteria to determine offering further testing. Eleven of the 17 cases had hydrops and presented with an increased Down syndrome risk based on MSAFP and free beta hCG screening. The median MOM level was 0.98 and 4.04 for MSAFP and free beta hCG, respectively. Three cases had hydrops but screened negative. The two cases of mosaic Turner syndrome were non-hydropic and screened positive. The 46,X,i(X)(q10) case was non-hydropic but had elevated MSAFP and free beta hCG levels. These data suggest that Turner syndrome pregnancies do not appear to screen positive due to hydrops alone, but screening may also be influenced by the inherent genetic imbalance in the fetus and placenta. Because the MSAFP levels in our series were within the normative range in all except one case with an elevated MSAFP, free beta hCG alone was the most effective screening marker for Turner syndrome pregnancies.

Adolescent↗
PubMed1996

Second-trimester dimeric inhibin-A in Down's syndrome screening.

Initial studies of immunoreactive inhibin using a commercial assay have shown levels to be increased in three second-trimester series of maternal samples from Down's syndrome-affected pregnancies. This assay detected non-specifically all forms of circulating inhibin, dimeric and free alpha subunits, whether fully or partially processed. More recently, a new specific assay for dimeric inhibin-A has shown elevated results in both a first-trimester and a second-trimester series of cases. In order to assess the value of dimeric inhibin-A as a potential marker in the second trimester, we have analysed 157 Down's syndrome cases and used 367 unaffected cases across the gestational range 14-20 weeks to establish control medians and population parameters. In our series, the median MOM in Down's cases was 1.77, significantly higher than in the controls. At a 5 per cent false-positive rate, dimeric inhibin-A alone identified 37 per cent of cases. When used in conjunction with maternal age and other marker combinations, mathematical modelling showed detection rates rising from 48 per cent (inhibin-A plus age) to 61 per cent (inhibin-A, free beta hCG, age) and 68 per cent (inhibin-A, AFP, free beta hCG, age). Our data suggest that dimeric inhibin-A may have greater potential earlier in gestation when median levels at 14-16 weeks are 1.92 compared with 1.46 at 17-23 weeks. Dimeric inhibin-A may be a valuable addition to screening protocols, particularly in early gestations.

Biomarkers↗
PubMed1995

The influence of gravidity on Down's syndrome screening with free beta hCG.

Total human chorionic gonadotropin (hCG) levels have been shown in one previous small study to vary with gravidity. In order to establish if maternal serum free beta hCG was similarly affected, approximately 4500 pregnancies of varying gravidity were analysed. The results indicated that there was a 6 per cent higher median MOM in primigravid compared with multigravid women. The impact of such elevation in Down's syndrome screening programmes will be minimal.

Body Weight↗
PubMed1994

Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome.

The median maternal serum free beta human chorionic gonadotropin (hCG) multiple of the median (MOM) of 480 Down syndrome cases in the second trimester was 2.64, significantly greater than the reported median MOM of intact hCG (p < 0.0001). In 234 of these cases from retrospective and prospective studies, the effectiveness of maternal serum free beta hCG was evaluated in combination with alpha-fetoprotein (AFP) and maternal age in second-trimester Down syndrome screening. Down syndrome detection in the gestational age range of 14-16 weeks was 82 per cent. In all gestational weeks (14-22), a 77.7 per cent Down syndrome detection rate was achieved. In prospective screening of 44,272 patients under the age of 35 years, 69 per cent of Down syndrome cases were detected (73 per cent in gestational weeks 14-16). The false-positive rate for the prospective study was 3.8 per cent. The use of free beta hCG combined with maternal serum AFP and maternal age-related risk for Down syndrome in a screening population (i.e., women under 35 years) yields an improved detection efficiency over other protocols.

Adult↗
PubMed1994

Down's syndrome screening in multiple pregnancies using alpha-fetoprotein and free beta hCG.

Second-trimester distributions of the free beta human chorionic gonadotrophin (hCG) and alpha-fetoprotein (AFP) levels in 420 twin and 19 triplet pregnancies were measured and compared with the distributions in 6661 singleton pregnancies. On average, the levels of both analytes were twice as high and over three times as high in triplets. Eight sets of twins discordant for Down's syndrome showed elevated levels of free beta hCG and reduced levels of AFP after correction of the multiple of the median for the presence of a twin pregnancy. Screening for Down's syndrome using the twin correction of the multiple of the median is expected to achieve a 51 per cent detection rate at a 5 per cent false-positive rate using these two markers.

Chorionic Gonadotropin↗
PubMed1994

First trimester biochemical screening for trisomy 21: the role of free beta hCG, alpha fetoprotein and pregnancy associated plasma protein A.

The potential efficacy of screening for trisomy 21 in the first trimester, using maternal serum markers alpha fetoprotein, free beta human chorionic gonadotropin, unconjugated oestriol and pregnancy associated plasma protein A, was studied in an unselected population of women between the seventh and fourteenth week of gestation. Using a combination of alpha fetoprotein and free beta human chorionic gonadotropin, 53% of affected pregnancies could be identified at a false positive rate of 5%. Unconjugated oestriol and pregnancy associated plasma protein A levels were lower in cases of trisomy 21, but their inclusion with other markers did not significantly improve detection rate. Monitoring the same pregnancies also in the second trimester showed that screening in the first trimester identified the same cases as in the second. We conclude that first trimester screening using free beta human chorionic gonadotropin and alpha fetoprotein, is a viable possibility and will lead to detection rates in excess of 50%. Prospective studies are needed to confirm these observations.

Adolescent↗
PubMed1993

Prenatal screening for trisomy 18 with free beta human chorionic gonadotrophin as a marker.

OBJECTIVE: To determine the relation between maternal serum alpha fetoprotein and free beta human chorionic gonadotrophin concentrations in pregnancies complicated by trisomy 18 and establish whether prenatal biochemical screening for this condition could be developed in a way similar to that proposed for trisomy 21. DESIGN: Serum alpha fetoprotein and free beta human chorionic gonadotrophin concentrations in women with singleton pregnancies affected by cytogenetically confirmed trisomy 18, uncomplicated by neural tube defect or ventral wall defect, were identified from prospective trisomy 21 screening programmes. Additionally, stored maternal serum from similar pregnancies was analysed retrospectively. Analyte concentrations from singleton unaffected pregnancies were identified from a prospective screening programme as controls. Statistical parameters of the affected and unaffected populations were compiled. SETTING: Biochemical screening laboratories in Britain and the United States. SUBJECTS: 52 women with singleton pregnancies complicated by trisomy 18; control population of 6661 women with unaffected singleton pregnancies. MAIN OUTCOME MEASURES: Median values of each analyte and their distribution in the affected and unaffected populations; detection rate of trisomy 18 and the false positive rate. RESULTS: Maternal serum alpha fetoprotein and free beta human chorionic gonadotrophin concentrations were significantly lower in pregnancies complicated by trisomy 18 (median values 0.71 and 0.37 respectively). By using a multivariate risk algorithm incorporating maternal age risk of trisomy 18 and the concentration of the two biochemical markers it was predicted that 50% of trisomy 18 cases (unaffected by neural tube defect or ventral wall defect) could be detected with a 1% false positive rate. CONCLUSION: Second trimester biochemical screening for trisomy 18 could be a valuable addition to trisomy 21 screening programmes.

Adolescent↗
PubMed1993

Prospective study of prenatal screening for Down's syndrome with free beta human chorionic gonadotrophin.

OBJECTIVE: To assess the value and impact of a screening programme for Down's syndrome that uses the two maternal serum markers: alpha fetoprotein and free beta human chorionic gonadotrophin. DESIGN: All women booked into clinics were screened. Further tests were offered to women with a risk of one in 300 or greater of having an affected baby. Follow up of outcome of all pregnancies. SETTING: Biochemical screening laboratory serving two health districts. SUBJECTS: 8179 women of all ages with singleton pregnancies screened between 15 and 22 weeks' gestation from 1 April 1991 to 31 March 1992. MAIN OUTCOME MEASURES: Detection rate of Down's syndrome, false positive rate, uptake of screening, uptake of amniocentesis in women identified as at increased risk, prevalence of Down's syndrome at birth. RESULTS: Overall 89% (8317/9345) of women underwent screening. The rate of detection of Down's syndrome was 69% (11/16; 95% confidence interval 41 to 89%) with a 5.2% false positive rate (426/179; 4.7 to 5.7%). In women under 30 the detection rate was 50% (four out of eight; 32 to 86%) Uptake of amniocentesis was 89% (389/437), resulting in a reduction of prevalence of Down's syndrome at birth from 1.1 per 1000 in previous years (66/59,696) to 0.4 per 1000 during the screening year (4/9345). Additionally, several other abnormalities were identified. CONCLUSION: The benefit of a high detection rate with this approach and the additional anomalies identified should encourage others to introduce screening programmes for Down's syndrome that use free beta human chorionic gonadotrophin and alpha fetoprotein.

Adult↗
PubMed1993

First-trimester free beta (hCG) screening for Down syndrome.

Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.

Biomarkers↗
PubMed1993

First-trimester biochemical screening for fetal chromosome abnormalities and neural tube defects.

Alpha-fetoprotein (AFP), unconjugated oestriol (UE3), intact human chorionic gonadotrophin (intHCG), and the free beta subunit of chorionic gonadotrophin (F beta HCG) were investigated in a series of 21 chromosomally abnormal and 14 open neural tube defect pregnancies ascertained from a series of 14,000 prospectively collected maternal serum samples at 6-14 weeks' gestation. In 16 cases of Down's syndrome, significant reductions were found for AFP (0.65 multiples of the normal median) and UE3 (0.67 MOM). IntHCG levels were unaltered (0.97 MOM) but a significant increase was found for F beta HCG (1.96 MOM). Significant correlations were found for AFP and UE3 in the controls and for intHCG and F beta HCG in both the control and the Down's syndrome pregnancies. In a group of five trisomy 18 pregnancies, median MOMs were for AFP 0.71, for UE3 0.34, for intHCG 0.27, and for F beta HCG 0.15. None of 13 pregnancies with open neural tube defects at 8-13 weeks gestation had elevated maternal serum AFP levels, whereas matched second-trimester samples from the same pregnancies at 16-18 weeks gestation all had significantly elevated AFP levels. Thus, biochemical screening for chromosome abnormalities may be practicable in the first trimester using free beta human chorionic gonadotrophin in combination with AFP and maternal age. However, a separate screening protocol using AFP at 15-18 weeks gestation would still be required for effective detection of neural tube defects.

Biomarkers↗
PubMed1993

Free alpha-subunit of human chorionic gonadotropin in Down syndrome.

OBJECTIVE: The purpose of this study was to evaluate the potential value of maternal serum free alpha-subunit of human chorionic gonadotropin concentrations in discriminating between pregnancies associated with Down syndrome and normal matched controls. STUDY DESIGN: Maternal serum concentrations were evaluated in 36 cases of fetal Down syndrome and compared with concentrations in 180 control unaffected pregnancies within the gestational age range 16 to 20 weeks matched for maternal age, gestational age, and storage duration. RESULTS: The results of the study indicate that free alpha-subunit of human chorionic gonadotropin concentrations in the Down syndrome group were not significantly different from those in the unaffected group (median multiple of the median: for Down syndrome group, 0.991; for unaffected group, 1.000). CONCLUSION: Caution is urged in the interpretation of published data; a case for using this subunit of human chorionic gonadotropin in Down syndrome screening protocols in the second trimester is not yet proved.

Adult↗