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Human Chorionic Gonadotrophin (human + chorionic_gonadotrophin)
Selected AbstractsUnexplained elevated maternal serum ,-HCG concentration and adverse pregnancy outcomePRENATAL DIAGNOSIS, Issue 11 2007Ramesh Ganapathy Abstract Objective To investigate the association between unexplained elevated maternal serum ,-Human chorionic gonadotrophin (HCG) in the second trimester of pregnancy and adverse pregnancy outcome. Methods In a case-controlled study of 3463 women who opted for second-trimester serum screening for Down syndrome, 142 were found to have a serum ,-HCG of ,3.5 multiples of the median (MoM), 56 of whom had a serum ,-HCG of ,5.0 MoM. These women were compared with a control group of women with serum ,-HCG within the 95% confidence interval around the median. Results In the elevated ,-HCG group (,5 MoM) significantly more babies required admission to the special care baby unit (p = 0.02) and were small for gestational age (SGA) (p = 0.03). The mean birth weight was also significantly lower in the group with elevated ,-HCG. Women with a serum ,-HCG of ,5, ,6, ,7 or ,8 MoM were associated with SGA babies in 40, 44, 64 and 86% respectively. All babies born to the six women with ,-HCG of 8.75,24.1 MoM were SGA. Conclusion Increased surveillance is necessary in pregnancies where the maternal serum ,-HCG in the second trimester is inexplicably elevated to ,5 MoM. Copyright © 2007 John Wiley & Sons, Ltd. [source] Persistent trophoblast disease following partial molar pregnancyAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 2 2006Sabien WIESMA Abstract Objective:, Human chorionic gonadotrophin (hCG) follow-up data were analysed retrospectively in all patients registered in the Hydatidiform Mole Registry at the Royal Women's Hospital, Melbourne from January 1992 to January 2001 to determine the risk of persistent trophoblast disease following partial molar pregnancy and to review the present follow-up protocol of patients suffering from partial hydatidiform molar pregnancy (PHM). Methods:, Demographic factors were determined for all 344 cases with a review diagnosis of PHM, included age, history of previous hydatidiform mole, gestation length, hCG levels and compliance with follow-up. Findings:, Six of the 344 patients diagnosed with PHM required treatment with single-agent methotrexate and folinic acid rescue. All six patients achieved and maintained a complete biochemical remission after chemotherapy. hCG regression assays were analysed for 235 patients: 225 patients had at least one normal hCG measurement during follow-up, of whom 152 (64.7%) patients obtained normal values within 2 months after evacuation. All patients obtained normal levels within 32 weeks after evacuation of the partial hydatidiform mole. Only 63 (25.6%) patients completed the recommended follow-up program. No patient who achieved normal hCG levels required chemotherapy because of a recurrent gestational trophoblastic tumour. Recommendations:, This study indicates that 1.7% of all partial mole pregnancy patients needed treatment for malignant sequelae. In contrast, no patient diagnosed with partial mole had a biochemical or clinical relapse after achieving normal levels of hCG, consistent with previous studies. Patients who have had a partial hydatidiform mole should be followed by hCG assays until normal levels are achieved and then follow-up can be safely discontinued. [source] Placental mesenchymal dysplasia associated with fetal aneuploidyPRENATAL DIAGNOSIS, Issue 3 2005Marta C. Cohen Abstract Objectives To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. Methods The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using Medline database. Results Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and ,chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32)+ 13); Klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); Beckwith,Wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. Conclusion Molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ß human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated. Copyright © 2005 John Wiley & Sons, Ltd. [source] First Service Pregnancy Rates Following Post-AI Use of hCG in Ovsynch and Heatsynch Programmes in Lactating Dairy CowsREPRODUCTION IN DOMESTIC ANIMALS, Issue 4 2010H Karami Shabankareh Contents Lactating dairy cows (n = 667) at random stages of the oestrous cycle were assigned to either ovsynch (O, n = 228), heatsynch (H, n = 252) or control (C, n = 187) groups. Cows in O and H groups received 100 ,g of GnRH agonist, i.m. (day 0) starting at 44 ± 3 days in milk (DIM), and 500 ,g of cloprostenol, i.m. (day 7). In O group, cows received 100 ,g of GnRH (day 9) and were artificially inseminated without oestrus detection 16,20 h later. In H group, cows received 1 mg oestradiol benzoate (EB) i.m., 24 h after the cloprostenol injection and were artificially inseminated without oestrus detection 48,52 h after the EB injection. Cows in C group were inseminated at natural oestrus. On the day of artificial insemination (AI), cows in all groups were assigned to subgroups as follows: human Chorionic Gonadotrophin (O-hCG) (n = 112), O-saline (n = 116), H-hCG (n = 123), H-saline (n = 129), C-hCG (n = 94) and C-saline (n = 93) subgroups. Cows in hCG and saline subgroups received 3000 IU hCG i.m. and or 10 ml saline at day 5 post-AI (day 15), respectively. Pregnancy status was assessed by palpation per rectum at days 40 to 45 after AI. The logistic regression model using just main effects of season (summer and winter), parity (primiparous and pluriparous), method1 (O, H and C) and method2 (hCG and saline) showed that all factors, except method1, were significant. Significant effects of season (p < 0.01), hCG and parity (p < 0.01), and a trend of parity and season (p < 0.1) were detected. A clear negative effect of warm period on first service pregnancy rate was noted (p < 0.01). The pregnancy rate was the lowest in the H protocol during warm period (p < 0.05). Treatment with hCG 5 days after AI significantly improved pregnancy rates in those cows that were treated with the H protocol compared with saline treatments (41.5% vs 24.8%; p < 0.01). O and H were more effective in primiparous than in pluriparous cows (46.1% vs 29.9%; p < 0.1 and 43.6% vs 24.6%; p < 0.01). First service pregnancy rates were higher in primiparous hCG-treated than in pluriparous hCG-treated cows (57.9% vs 32.3%; p < 0.01). The pregnancy rate was higher for the hCG-treated cows compared with saline-treated cows during warm period (37.9% vs 23.6%; p < 0.001). [source] Pregnancy rates in mares after a single fixed time hysteroscopic insemination of low numbers of frozen-thawed spermatozoa onto the uterotubal junctionEQUINE VETERINARY JOURNAL, Issue 2 2003L. H. A. MORRIS Summary Reasons for performing study: To compensate for the wide variation in the freezability of stallion spermatozoa, it has become common veterinary practice to carry out repeated ultrasonography of the ovaries of oestrous mares in order to be able to inseminate them within 6,12 h of ovulation with a minimum of 300,500 × 106 frozen-thawed spermatozoa. Furthermore, in order to achieve satisfactory fertility, this requirement for relatively high numbers of spermatozoa currently limits our ability to exploit recently available artificial breeding technologies, such as sex-sorted semen, for which only 5,20 × 106 spermatozoa are available for insemination. Objectives: This study was designed to evaluate and compare the efficacy of hysteroscopic vs. conventional insemination when low numbers of spermatozoa are used at a single fixed time after administration of an ovulation-inducing agent. Methods: In the present study, pregnancy rates were compared in 86 mares inseminated once only with low numbers of frozen-thawed spermatozoa (3,14 × 106) at 32 h after treatment with human chorionic gonadotrophin (hCG), either conventionally into the body of the uterus or hysteroscopically by depositing a small volume of the inseminate directly onto the uterotubal papilla ipsilateral to the ovary containing the pre-ovulatory follicle. Results: Pregnancy rates were similarly high in mares inseminated conventionally or hysteroscopically with 14 × 106 motile frozen-thawed spermatozoa (67% vs. 64%). However, when the insemination dose was reduced to 3 × 106 spermatozoa, the pregnancy rate was significantly higher in the mares inseminated hysteroscopically onto the uterotubal junction compared to those inseminated into the uterine body (47 vs. 15%, P<0.05). Conclusions: When inseminating mares with <10 × 106 frozen-thawed stallion spermatozoa, hysteroscopic uterotubal junction deposition of the inseminate is the preferred method. Potential clinical relevance: Satisfactory pregnancy rates are achievable after insemination of mares with frozen-thawed semen from fertile stallions 32 h after administration of human chorionic gonadotrophin (Chorulon)1. Furthermore, these results were obtained when mares were inseminated with 14 × 106 progressively motile frozen-thawed spermatozoa from 2 stallions of proven fertility. [source] Intracytoplasmic sperm injection as a complement to gonadotrophin treatment in infertile men with hypogonadotrophic hypogonadismINTERNATIONAL JOURNAL OF ANDROLOGY, Issue 4 2005BRANKO ZORN Summary In this study we sought to determine whether intracytoplasmic sperm injection (ICSI) could improve the efficacy of treatment with gonadotrophins in gonadotrophin-deficient men in terms of pregnancy. A series of six adult men (aged 26,47 years) with hypogonadotrophic hypogonadism (HH) is reported: four men with prepubertal isolated idiopathic HH (IIHH) and two adult-onset HH, as part of hypopituitarism secondary to surgical treatment of a pituitary tumour. All were azoospermic. To restore spermatogenesis, all received hormonal treatment with intramuscular human menopausal gonadotrophins (HMG) and human chorionic gonadotrophin (HCG) for 2 to 23 months. High basal serum inhibin B was predictive of rapid and complete recovery of spermatogenesis. In the two adult-onset HH, a natural pregnancy was achieved within 3 months. The four men with IIHH underwent ICSI because of poor sperm quality. ICSI using fresh or frozen-thawed ejaculated spermatozoa was performed after 6,23 months of gonadotrophin treatment. ICSI provided good clinical results in terms of fertilization and embryo quality, and resulted in three pregnancies that ended in three term deliveries. In men with oligozoospermia related to prepubertal IIHH, ICSI shortens the hormonal treatment and enhances the chances of pregnancy. [source] Cost-effectiveness analysis of triple test in second-trimester maternal serum screening for Down's syndrome: an experience from Taiwan with decreasing birth rate but increasing population of old pregnant womenJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2008Hsiao-Lin Hwa PhD Objectives, We intended to assess the cost-effectiveness of adding unconjugated oestriol (uE3) in maternal serum screening for Down's syndrome in Taiwan, where there is a decreasing birth rate but an increasing trend of old women having pregnancies. Methods, We used logistic regressions to estimate the risk of Down's syndrome with maternal age and different combinations of biomarkers. Cost-effectiveness analysis was presented in terms of the average and incremental cost-effectiveness ratios. Sensitivity analyses with different parameters were performed. Results, Given a cut-off point of 1:270 for the confirmation of Down's syndrome with amniocentesis, the average cost per case averted for maternal age above 35 years only, double test [alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG)] and triple test (AFP, hCG and uE3) were estimated as $14 561, $42 367 and $37 424. The additional costs per case averted for double test and triple test (compared with maternal age above 35 years) were $135 950 and $77 394, respectively. The additional cost per case averted for triple test was $15 199 compared with double test. Conclusions, The performance of triple test is not only more effective in detecting Down's syndrome cases but also more cost-effective than double test in this study. [source] Can glycans unveil the origin of glycoprotein hormones?,human chorionic gonadotrophin as an example,JOURNAL OF MASS SPECTROMETRY (INCORP BIOLOGICAL MASS SPECTROMETRY), Issue 7 2008R. Ramírez-Llanelis Abstract Doping with (glyco)protein hormones represent an extremely challenging, analytical problem as nearly all are constitutively present at low concentrations that fluctuate according to circadian or alternative periodical, or external stimuli. Thus the mere concentration in a biological sample is only resolutive when this surpasses extreme values. As the vast majority of these molecules are produced by recombinant DNA technology it is believed that the exogenous molecules could bear the signature of the host cell. In particular, these could comprise structural differences originated from co or post-translational differences. In this study we have employed both proteomics and glycomics strategies to compare recombinant and urinary human chorionic gonadotrophin in order to evaluate this hypothesis. As anticipated the recombinant hormone could be shown to contain N -glycolyl neuraminic acid, a sialic acid that cannot be produced by humans. Furthermore, differences were observed in the overall glycosylation, in particular the presence of abundant hybrid-type glycans that were much less pronounced in the recombinant species. These differences were determined to occur predominantly in the ,-subunit for which antidoping strategies focussed on these elements could be used for both chorionic gonadotrophin and lutrophin as they share the same ,-subunit. Copyright © 2008 John Wiley & Sons, Ltd. [source] Spontaneous twin cervico-isthmic pregnancy in a grand multiparous womanJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Meral Cetin Abstract Cervico-isthmic pregnancy is a rare form of ectopic pregnancy and is defined as the implantation of a fertilized ovum in the cervico-isthmic portion. The cause is unknown; local pathology related to previous cervical or uterine surgery may play a role, given an apparent association with a prior history of curettage or cesarean delivery. Transvaginal ultrasonography and ,-human chorionic gonadotrophin assays are useful for diagnosis. Here we report a case of spontaneous twin cervico-isthmic pregnancy in a grand multiparous patient who was diagnosed early in the first trimester with transvaginal ultrasonography. The pregnancy was terminated successfully with methotrexate. Methotrexate seems to be most successful at early gestational ages. [source] Effect of human chorionic gonadotrophin on in vitro contractions of stimulated detrusor muscle strips of female ratsJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2009Diaa E. E. Rizk Abstract Aims:, We studied the effect of human chorionic gonadotrophin (hCG) on the in vitro detrusor muscle contractions in female rats. Methods:, Two adjacent detrusor muscle strips from the bladder dome of 18 female Wistar rats (230,250 gm) were mounted in an organ bath for the recording of isometric tension. Carbachol (10,9,10,3 M), ,,, methylene adenosine 5,-triphosphate (ATP) (10,9,10,3 M) and potassium chloride (KCl) (10,4,10,3 M) were applied (n = 6 × 3 groups). Concentration-response curves, before and after the addition of hCG (100 iu/mL) or oxybutynin (10,5 M) to either muscle strip, were compared. Results:, All curves were displaced to the right by hCG in a concentration-dependent manner with significant inhibition of contractions induced by carbachol (P < 0.001) and KCl (P = 0.016) but not those induced by ,,,-methylene ATP (P = 0.4). Estimated order of potency of inhibition was carbachol>KCl>,,,-methylene ATP. The overall inhibitory effect of hCG was significantly less than oxybutynin (P < 0.001). Conclusions:, hCG significantly inhibited in vitro detrusor contractions induced by depolarization (KCl) and cholinergic (carbachol) but not purinergic (,,,-methylene ATP) stimulation in a dose-dependent manner in female rats. [source] Malignant transformation of atypical endometrial hyperplasia after progesterone therapy showing germ-cell tumor-like differentiationPATHOLOGY INTERNATIONAL, Issue 6 2004Masanori Yasuda A 31-year-old woman was treated for atypical endometrial hyperplasia (AEH) with high-dose medroxyprogesterone acetate (MPA) therapy to preserve fertility. The AEH was found by repeated cytologic and histologic examinations to have completely disappeared with the therapy, but 3 years after her last follow up she required emergency surgery to treat severe genital bleeding. The hysterectomied uterus consisted mostly of poorly differentiated adenocarcinoma, G3 endometrioid type. Minor AEH was present in the exophytic area, in which some glands were cystically dilated. Part of the AEH had transformed into other histologic features with germ-cell-like differentiation, demonstrated by immunohistochemical positive reaction of placental alkaline phosphatase, alpha-fetoprotein, and human chorionic gonadotrophin. Recurrent AEH had undergone malignant transformation, resulting in the development of well- and poorly differentiated adenocarcinoma and tumor exhibiting germ-cell-like differentiation. The patient died of a massive tumor extension 7 months after surgery. The AEH before MPA therapy and the recurrent tumors had genetically different characteristics based on evidence of a loss of heterozygosity, detected at D8S1132 (chromosomal locus, 8q22.1) in the latter but not in the former, by analysis of genetic alterations using microsatellite markers. [source] Prediction of adverse pregnancy outcomes by combinations of first and second trimester biochemistry markers used in the routine prenatal screening of Down syndromePRENATAL DIAGNOSIS, Issue 5 2010Tianhua Huang Abstract Objective To investigate the associations between four defined adverse pregnancy outcomes and levels of first and second trimester maternal serum markers focusing in particular on how well combinations of markers predict these adverse outcomes. Methods This was a retrospective review of associations between first and second trimester serum markers and adverse pregnancy outcomes among 141 698 women who underwent prenatal screening for Down syndrome in Ontario, Canada. Detection rates (DR), false positive rates (FPR), and odds ratios were estimated using both single and combinations of markers for the adverse outcomes defined. Results Women with decreased second trimester unconjugated oestriol (uE3), deceased first trimester maternal serum pregnancy-associated plasma protein A (PAPP-A), increased second trimester serum alpha fetoprotein (AFP), or increased second trimester total human chorionic gonadotrophin (hCG) were at greater risk of developing adverse pregnancy outcomes. At a 5% FPR, combinations of these markers predicted at best 33.3% of fetal loss and 31.5% of preterm births (PTB) before 32 weeks of gestation. Conclusion There are significant associations between the levels of first and second trimester serum markers and adverse obstetric outcomes. However, even combinations of these markers can only predict adverse obstetric outcomes with modest accuracy. Copyright © 2010 John Wiley & Sons, Ltd. [source] Association offirst-trimester low PAPP-A levels with preterm birth,,PRENATAL DIAGNOSIS, Issue 4 2010Katherine R. Goetzinger Abstract Objective To determine the association of, and predictive ability of, pregnancy-associated plasma protein A (PAPP-A), free ,-human chorionic gonadotrophin (,-hCG), and nuchal translucency (NT) with preterm birth (PTB). Methods A 5-year retrospective cohort study of women who underwent first-trimester combined screening was performed. Maternal medical, antepartum, and pregnancy outcome data were obtained. PAPP-A and ,-hCG were converted to multiples of the median (MoM), and primary exposure was defined as ,10th percentile MoM for PAPP-A. Secondary exposures were defined as , 90th percentile MoM for ,-hCG and NT values of , 20 and 25 mm. The primary outcome was PTB before 35 weeks and the secondary outcome was PTB before 32 weeks. Univariate, bivariate, multivariate, and receiver,operator analyses were used. Results Of the 2231 patients meeting inclusion criteria with complete outcome data available, 222 had a PAPP-A level ,10th percentile MoM. Abnormally low PAPP-A was associated with an increased risk for PTB < 35 weeks [adjusted odds ratio (aOR) 2.0, 1.0,3.8] and < 32 weeks (aOR 2.7, 1.1,6.4), even after adjusting for prior PTB, tobacco exposure, chronic hypertension, and body mass index. PAPP-A ,10th percentile was not sufficiently predictive of PTB < 35 weeks (area under curve = 0.63, 95% CI 0.53,0.72). Neither abnormally high ,-hCG nor increased NT was associated with an increased risk for PTB. Conclusions PAPP-A ,10th percentile is associated with an increased risk for PTB, but is not sufficiently predictive to be used clinically. Copyright © 2010 John Wiley & Sons, Ltd. [source] First-trimester serum marker distribution in singleton pregnancies conceived with assisted reproductionPRENATAL DIAGNOSIS, Issue 4 2010M. A. J. Engels Abstract Objective To evaluate marker distribution of free ,-human chorionic gonadotrophin (f,-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies conceived by assisted reproduction techniques (ART). Methods In vitro fertilization (IVF) (n = 203) and intracytoplasmic sperm injection (ICSI) (n = 192) cases from a database of 14 645 first-trimester combined tests (overall study group) were selected and matched to 1164 controls for gestational age at sample date and maternal age. Results In the IVF group and ICSI group, lnPAPP-A was lower (IVF 6.74 vs 7.08; P = 0.0001; ICSI 6.59 vs 7.07; P = 0.0001) compared with the matched controls. Lnf,-hCG was lower in the IVF group (3.75 vs 3.90; P = 0.005) but not significantly different in the ICSI group (3.87 vs 3.93; P = 0.27). The computed correction factors for PAPP-A and f,-hCG were 1.42 and 1.17 for the IVF group and 1.56 and 1.05 for the ICSI group. The false-positive rate (FPR) in the IVF and ICSI group compared with the matched controls was higher (IVF 10.3% vs 8.6% and ICSI 10.9% vs 7.5%). In the overall age-biased [maternal age significantly lower compared with all ART and control groups] study group the FPR was 6.8%. Conclusion The increase in FPR in the ART groups can be explained by decreased PAPP-A values. Therefore, an adjustment in risk analysis for Down syndrome is suggested. Copyright © 2010 John Wiley & Sons, Ltd. [source] Identification of second trimester screen positive pregnancies at increased risk for congenital heart defectsPRENATAL DIAGNOSIS, Issue 6 2009Laura L. Jelliffe-Pawlowski Abstract Objective To examine whether second trimester biomarkers could be used to identify screen positive pregnancies at increased risk for congenital heart defects (CHDs) and measure the effect of using different biomarker cut points on the detection of CHDs and on the performance of predictive models. Methods Included were 19,402 pregnancies without chromosomal defects, which were screen positive for Down syndrome or other birth defects based on maternal serum measurements of alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3). Logistic regression models were built that compared biomarkers for CHD cases compared to controls. Results CHD cases were more likely to be screen positive for trisomy-18, to have a nuchal fold (NF) , 5 mm, and/or to have an hCG multiple of the median (MoM) , 95th percentile in models that considered screen positive grouping. In models that did not consider screen positive grouping, cases were more likely to have a NF , 5 mm, an AFP MoM ,10th percentile, an hCG MoM ,25th percentile, and/or an hCG MoM , 75th percentile. Conclusion Along with NF, second trimester maternal serum biomarkers may be useful indicators for fetal and newborn evaluation for CHDs in screen positive pregnancies without identified chromosomal defects. Copyright © 2009 John Wiley & Sons, Ltd. [source] Serum leptin in first-trimester Down syndrome pregnanciesPRENATAL DIAGNOSIS, Issue 6 2008Paula Hedley Abstract Background Leptin is a key regulator of satiety; and the serum concentration is considered to reflect nutritional status. Expressed predominantly by the adipocytes, leptin is also expressed in placenta, which is a major source of both leptin and the leptin receptor in pregnancy serum. As a placenta protein, leptin serum concentrations may be perturbed in Down syndrome (DS) pregnancies as seen for pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotrophin-, (hCG,). We examined whether leptin is a maternal serum marker for foetal DS in the first trimester. Materials and Methods Serum samples from 44 pregnant women with a DS foetus, and 135 control pregnant women in week 8 to 14 had the leptin concentration determined by immunoassay and the concentrations were converted into multiples of the median (MoM) of controls based on log-regression analysis. The distributions of log10 MoM leptin was compared in DS and control pregnancies. Results Serum leptin increased significantly with gestational age in controls (p = 0.02). The mean log10 MoM in controls was , 0.0486, with a median empirical MoM of 0.89, and , 0.0618, with a median empirical MoM of 0.80, in DS pregnancies. This difference was not significant. The log10 MoM leptin values in DS pregnancies did not change with gestational age (p = 0.32). Conclusion Leptin is not a first-trimester marker for foetal DS. Copyright © 2008 John Wiley & Sons, Ltd. [source] First-trimester combined screening for Down syndrome: prediction of low birth weight, small for gestational age and pre-term delivery in a cohort of non-selected womenPRENATAL DIAGNOSIS, Issue 3 2008Kasper Pihl Abstract Objective To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-, (,-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth weight, small for gestational age (SGA) and pre-term delivery. Methods A retrospective cohort study including 1734 non-selected singleton pregnancies consecutively enrolled into the programme of first-trimester combined screening for DS in a 12-month period at a single centre. Data from the Prenatal Patient Registry in ASTRAIA were combined with the Danish National Newborn Screening Registry and Danish Birth Registry. Results There was a significant relation between low PAPP-A MoM, low ,-hCG MoM, increased risk estimate for DS and low birth weight and SGA. Low PAPP-A MoM and increased NT showed a significant relation to pre-term and spontaneous pre-term delivery. Low PAPP-A MoM showed a significant relation to early pre-term delivery. Conclusion First-trimester screening markers exhibited a significant relation to low birth weight, SGA and to some extent, to pre-term and early pre-term delivery. The screening performance of individual markers was poor. Copyright © 2008 John Wiley & Sons, Ltd. [source] Contingent screening for Down syndrome,results from the FaSTER trialPRENATAL DIAGNOSIS, Issue 2 2008Howard S. Cuckle Abstract Objective Comparison of contingent, step-wise and integrated screening policies. Methods Mid-trimester Down syndrome risks were retrospectively calculated from FaSTER trial data. For contingent screening, initial risk was calculated from ultrasound measurement of nuchal translucency (NT), maternal serum pregnancy-associated plasma protein (PAPP)-A and free ,-human chorionic gonadotrophin (hCG) at 11,13 weeks, and classified positive (>1 in 30), borderline (1 in 30,1500) or negative. Borderline risks were recalculated using ,-fetoprotein, hCG, unconjugated estriol (uE3) and inhibin at 15,18 weeks, and reclassified as positive (>1 in 270) or negative. For step-wise screening, initial negative risks were also recalculated. For integrated screening, a single risk was calculated from NT, PAPP-A and the second trimester markers. Results There were 86 Down syndrome and 32 269 unaffected pregancies. The detection rate for contingent screening was 91% and false-positive rate was 4.5%; initial detection rate was 60%, initial false-positive rate was 1.2% and borderline risk was 23%. Step-wise screening had 92% detection rate and 5.1% false-positive rate; integrated screening had 88% and 4.9% respectively. Conclusion As predicted by modelling, the contingent screening detection rate for a fixed false-positive rate is comparable with step-wise and integrated screening, but substantially reduces the number needing to return for second trimester testing. Copyright © 2008 John Wiley & Sons, Ltd. [source] Maternal serum free-,-chorionic gonadotrophin, pregnancy-associated plasma protein-A and fetal nuchal translucency thickness at 10,13+6 weeks in relation to co-variables in pregnant Saudi womenPRENATAL DIAGNOSIS, Issue 4 2007Mohammed-Salleh M. Ardawi Abstract Objective To establish normative values and distribution parameters of first-trimester screening markers, namely, fetal nuchal translucency (NT), maternal serum free ,-human chorionic gonadotrophin (,-hCG) and pregnancy-associated plasma protein-A (PAPP-A), at 10 to 13+6 weeks of gestation in Saudi women and to evaluate the effect of co-variables including maternal body weight, gravidity, parity, fetal gender, twin pregnancy, smoking and ethnicity on these markers. Methods A cohort of Saudi women (first cohort n = 1616) with singleton pregnancies prospectively participated in the present study, and fetal NT together with maternal serum free ,-hCG and PAPP-A were determined at 10 to 13+6 weeks of gestation. The distribution of gestational age-independent multiples of the median (MoM) of the parameters was defined and normative values were established, and correction for maternal body weight was made accordingly. The influence of various co-variables was examined using the data collected from the first and the second (n = 1849) cohorts of women and 62 twin pregnancies, and compared with other studies. Results All markers exhibited log-normally distributed MoMs. Gestational age-independent normative values were established. Maternal body weight was corrected, particularly for maternal free ,-hCG and PAPP-A using standard methods. Fetal NT showed a negative relationship with increasing gravidity (r = ,0.296) or parity (r = ,0.311), whereas both free ,-hCG and PAPP-A exhibited a significant positive relationship. There was a significant increase in the MoM of free ,-hCG in female fetuses. Smoking decreased MoM values of free ,-hCG (by 14.6%; P < 0.01) and PAPP-A (by 18.8%; P < 0.001). Twin pregnancy showed significant increases in MoM values of free ,-hCG (by 1.87-fold) and PAPP-A (by 2.24-fold), with no significant changes in fetal NT MoM values. Fetal NT MoM values were lower in Africans and Asians but higher in Orientals, as compared to Saudi women (P < 0.05; in each case). MoM values (body weight-corrected) of free ,-hCG were 25.2% higher in Africans and 19.4% higher in Orientals but 6.8% lower in other Arabian and Asian (by 5.8%) women as compared to Saudi women (P < 0.05; in each case). Conclusions The normative values and distribution parameters for fetal NT, maternal serum free ,-hCG and PAPP-A were established in Saudi singleton pregnancies, the maternal body weight together with smoking, twin pregnancy and ethnicity being important first-trimester screening co-variables. Gravidity, parity and fetal gender are also considered to influence one or more of the first-trimester markers examined. Copyright © 2007 John Wiley & Sons, Ltd. [source] Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndromePRENATAL DIAGNOSIS, Issue 8 2006Chih-Ping Chen Abstract Objectives To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndrome. Methods Amniocentesis was performed at 18 weeks' gestation on a 27-year-old woman at a community hospital because of a high Down syndrome risk of 1/178, a low maternal serum ,-fetoprotein (MSAFP) level of 0.66 multiples of the median (MoM), and a high maternal serum human chorionic gonadotrophin (MShCG) level of 3.13 MoM. The karyotype was initially determined to be 46,XY. However, fetal macrocephaly and overgrowth were found at 30 weeks' gestation. Postnatally, the infant manifested characteristic features of Gorlin syndrome. High-resolution chromosomal bandings of the peripheral blood lymphocytes, polymorphic DNA marker analysis to determine the parental origin of the deletion, array comparative genomic hybridization (CGH) to determine the extent of the chromosomal deletion, and fluorescence in situ hybridization (FISH) to determine the deletion of the PTCH gene were performed. Results The 850-band level of resolution showed an interstitial deletion of 9q (9q22.3,q31.3). The parental karyotypes were normal. The karyotype of the proband was 46,XY,del(9)(q22.3q31.3)de novo. Polymorphic DNA marker analysis revealed that the deletion was of paternal origin. Array CGH revealed that the deleted region was about 12 Mb, encompassing the segment from 9q22.32 to 9q31.3. FISH analysis using the BAC probe RP11-34D4 and the probe RP11-43505 indicated the deletion of the PTCH gene. Conclusions Fetuses with an interstitial deletion of 9q (9q22.3,q31.3) may be associated with a low level of MSAFP and a high level of MShCG in the second trimester, and sonographic findings of overgrowth and macrocephaly in the third trimester. Copyright © 2006 John Wiley & Sons, Ltd. [source] Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literaturePRENATAL DIAGNOSIS, Issue 6 2004Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis of complete trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free ,-human chorionic gonadotrophin (MSfree,-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfree,-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd. [source] Prenatal screening for Down syndrome: the problem of recurrent false-positivesPRENATAL DIAGNOSIS, Issue 5 2004Nicholas J. Wald Abstract Objectives It has been reported that, in prenatal screening programmes for Down syndrome, women who have false-positive results in one pregnancy have an increased risk of a false-positive result in a subsequent pregnancy. We examined the effect of this in the screening programme conducted from the Wolfson Institute of Preventive Medicine with a view to determining the magnitude of the effect, and to describe a method of avoiding the problem. Methods Six thousand four hundred and forty-eight women were identified who had had two singleton pregnancies without Down syndrome in the screening programme based at the Wolfson Institute of Preventive Medicine, in which both pregnancies were screened using a Quadruple test (maternal age with alphafetoprotein (AFP), unconjugated oestriol (uE3), total or free ,-human chorionic gonadotrophin (hCG) and either free ,-hCG or inhibin-A as the fourth serum marker). Results Among women who had a false-positive result in their initial pregnancy, the false-positive rate in the subsequent pregnancy was high: 20% (46/229), about three times higher than both the overall observed false-positive rate (6.6%), and the expected false-positive rate, in subsequent pregnancies that were false,positive in their initial pregnancy (7.5%) (p < 0.001). This arises because serum marker levels in one pregnancy are associated with the levels in a subsequent pregnancy. Using the slope (the regression coefficient b) of each marker level in a subsequent pregnancy regressed on the value in the first pregnancy, it is possible to adjust all marker values in a subsequent pregnancy to allow for the higher-than-expected false-positive rate. This can be done by dividing the observed MoM value for each marker by the ,expected' MoM, which is the MoM value in a previous pregnancy raised to the power b. Conclusions If a woman has had a false-positive result in one pregnancy, she is much more likely to have a false-positive screening result in a subsequent pregnancy than women in general. The problem can be avoided by adjusting the serum markers in all women who have been screened in a previous pregnancy and who have not had a previous pregnancy with Down syndrome. Copyright © 2004 John Wiley & Sons, Ltd. [source] Mid-gestation Down syndrome screening test and pregnancy outcome among unstimulated assisted-conception pregnanciesPRENATAL DIAGNOSIS, Issue 8 2003Adrian Shulman Abstract Objectives Alteration of mid-gestation serum markers in assisted-conception pregnancies is believed to be attributable to ovarian superovulation treatment modalities. We compared alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3) in two groups of unstimulated assisted-conception pregnancies, that is, own-oocyte frozen embryos (own-FET) versus oocyte-donated (OD) embryos. Methods Forty-three OD-conceived and 31 own-FET-conceived singleton parturient women (aged 29 ± 4 years and 31 ± 4 years respectively, P < 0.05) were followed from embryo transfer throughout pregnancy. Results The daily pattern of first-trimester serum ,-hCG was similar in both groups. The OD group had only significantly increased AFP concentrations compared to the own-FET group (1.38 vs 0.99 median MoM respectively, P = 0.002). Although there were no chromosomal abnormalities and no fetal or neonatal deaths in either group, 12% OD women and 6.5% own-FET women were found screen-positive. Eight OD women and 11 FET women had an adverse obstetric outcome (P = NS). Conclusion OD embryos are a unique clinical model for evaluating the uterine compartment and its contribution to mid-gestation serum marker secretion. Copyright © 2003 John Wiley & Sons, Ltd. [source] Detection of maternal serum hCG glycoform variants in the second trimester of pregnancies affected by Down syndrome using a lectin immunoassayPRENATAL DIAGNOSIS, Issue 1 2003J. A. Talbot Abstract Aim To assess whether glycoform variants of human chorionic gonadotrophin (hCG) are present in altered concentrations in the maternal serum in pregnancies affected by Down syndrome. Methods In a series of 50 cases of pregnancies complicated by Down syndrome and 278 unaffected pregnancies, we have examined maternal serum levels of hCG glycoforms (GlyhCG) in samples collected in the second trimester (14 to 21 weeks) using a sialic acid binding lectin immunoassay. We have compared these levels with those of other second trimester serum markers (Free ,-hCG, alpha fetaprotein (AFP) and Total hCG) and modelled detection rates and false positive rates of various biochemical markers in conjunction with maternal age using a maternal age standardized population. Results Maternal serum GlyhCG in cases of Down syndrome was significantly elevated (Median MoM 1.81) with 15 of 50 (30%) cases above the 95th centile for unaffected pregnancies. Free ,-hCG was also elevated (Median MoM 2.16) with 18 of 50 (36%) cases above the 95th centile. AFP levels were reduced (Median MoM 0.75) with 9 of 50 (18%) cases below the 5th centile. Total hCG levels whilst elevated (Median MoM 1.88) had only 15 of 50 (30%) cases above the 95th centile. Maternal serum GlyhCG levels showed significant correlation with total hCG and free ,-hCG (r = 0.6880 and 0.6922) in the Down group but not with AFP (r = 0.1237). When GlyhCG was combined together with AFP and maternal age, at a 5% false positive rate, the modelled detection rate was 53%, some 13% lower than when free ,-hCG was used and some 7% lower than when total hCG was used. Conclusion Maternal serum GlyhCG, as measured by the sialic acid,binding lectin immunoassay is unlikely to be of additional value when screening for Down syndrome in the second trimester. Copyright © 2002 John Wiley & Sons, Ltd. [source] Uptake of prenatal screening for chromosomal anomalies: impact of test results in a previous pregnancyPRENATAL DIAGNOSIS, Issue 13 2002Kevin Spencer Abstract Aim To assess whether the uptake of prenatal screening for trisomy 21 in a subsequent pregnancy is influenced by being classified in the ,increased risk' or ,not at increased risk' group in the first pregnancy. Setting District General Hospital Maternity Unit. Methods Amongst a group of women attending for maternity care at this hospital, the maternity records were examined to find women having at least two pregnancies. Any prenatal screening record for each pregnancy was retrieved from the prenatal screening database. Prenatal screening for trisomy 21 was by a combination of maternal serum ,-fetoprotein (AFP) and free ,-human chorionic gonadotrophin (,-hCG) in the second trimester and by maternal serum free ,-hCG and pregnancy-associated plasma protein-A (PAPP-A) and fetal nuchal translucency (NT) thickness in the first trimester. Women were stratified according to their trisomy 21 risk into an ,increased risk' group (1: <250 in the second trimester and 1: <300 in the first trimester) or ,not at increased risk' group based on their first pregnancy. In a second pregnancy, the records were examined to see if the mother accepted prenatal screening in the second pregnancy. The rate of acceptance of screening in a subsequent pregnancy, depending on whether ,at increased risk' or ,not at increased risk' in the first pregnancy, was examined using chi square tests. Results In the second trimester study, 4601 women were identified with two pregnancies during the study period. Of these, 4559 women had prenatal screening in a subsequent pregnancy. Initially, 273 women were identified in the high-risk group, and of these 252 (92.3%) elected to have prenatal screening in a subsequent pregnancy. This compared with 4307 of 4328 (99.5%) women in the low-risk group. In the first trimester study, 1077 women were identified with two pregnancies during the study period. Of these, 1072 had prenatal screening in a subsequent pregnancy. Initially, 60 women were identified in the high-risk group, and of these 56 (93.3%) elected to have prenatal screening in a subsequent pregnancy. This compared with 1016 of 1017 (99.9%) in the low-risk group. Statistically, there was no difference between the rate of declining prenatal screening in a second pregnancy amongst those in the high-risk group in a first pregnancy or those in the low-risk group (p = 0.429 for second trimester screening and p = 0.794 for first trimester screening). Similarly, no difference could be demonstrated between rates when screening in the first or second trimester (p = 0.961) for those in the high-risk group. Conclusion Despite the understandable anxiety associated with being identified in the high-risk group (as a false positive finding) in a previous pregnancy, this did not seem to deter women from accepting prenatal screening in a subsequent pregnancy. Copyright © 2002 John Wiley & Sons, Ltd. [source] Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndromePRENATAL DIAGNOSIS, Issue 8 2002Yung Hang Lam Abstract Background It is uncertain whether first trimester nuchal translucency (NT) is more effective than the well-established second trimester serum screening for fetal Down syndrome or whether their combination works best. We report data from a large multicentre non-interventional trial in which all subjects underwent both first and second trimester screening. Methods All women who attended the obstetric clinic before 15,weeks' gestation were recruited. An ultrasound examination was performed at 10 to 14,weeks to measure the NT. The nuchal measurements were not acted upon unless the fetus showed gross features of hydrops fetalis. All women had serum alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) assay at 15 to 20,weeks. The Down syndrome risk assigned by serum screening was disclosed and amniocentesis was offered if this assigned risk was ,1:250 or if the women were 35,years and older. The efficacy of different combinations of screening markers was compared. Results Between January 1997 and August 2000, 17 590 women were recruited (19% ,35,years old). After excluding subjects who miscarried, defaulted the serum test and other reasons, 16 237 pregnancies were analysed. Of these, 35 pregnancies were affected by Down syndrome (2.2 cases per 1000 pregnancies). At a false-positive rate of 5%, the detection rate of Down syndrome by NT alone, NT and age, serum hCG, AFP and age, and NT, hCG, AFP and age were 61%, 69%, 73% and 86%, respectively. Conclusion Integration of NT and second trimester serum AFP and hCG assay yielded the best screening efficacy for Down syndrome. Copyright © 2002 John Wiley & Sons, Ltd. [source] Mid-trimester triple test levels in early and late onset severe pre-eclampsiaPRENATAL DIAGNOSIS, Issue 7 2002Simon Shenhav Abstract Objective To study whether the degree of elevation of mid-trimester triple test markers differs in patients with early versus late onset severe pre-eclampsia. Methods A retrospective study of the medical records of 102 patients with severe pre-eclampsia for whom mid-trimester triple test result data were available was made. None of these patients had fetuses with abnormal karyotype nor delivered infants with malformations. Pre-eclampsia was defined as early onset when it presented before 32 weeks' gestation. The levels of mid-trimester maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotrophin (hCG) and unconjugated oestriol (MSuE3) in patients with early and late onset severe pre-eclampsia were compared. Results Twenty-five patients had early onset and 77 patients had late onset severe pre-eclampsia. The two groups did not differ significantly with regard to age, weight, parity and severity of pre-eclampsia. The mean MSAFP in patients with early onset was significantly higher than in patients with late onset severe pre-eclampsia (1.46 MoM, SE 0.12 versus 1.16 MoM, SE 0.05; p=0.01). The mean hCG in the early onset group was also significantly higher than in the late onset group (1.71 MoM, SE 0.18 versus 1.21 MoM, SE 0.07; p=0.03). Mean MSuE3 levels in patients with early onset were significantly lower than in patients with late onset severe pre-eclampsia (0.83 MoM, SE 0.05 versus 1.02 MoM, SE 0.03; p=0.04). Conclusions Higher MSAFP and hCG, and lower MSuE3, may be more significant markers of early rather than late onset severe pre-eclampsia. Copyright © 2002 John Wiley & Sons, Ltd. [source] Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21PRENATAL DIAGNOSIS, Issue 3 2002Vivienne L. Souter Abstract Objective The aim of the present study was to assess possible correlations between ultrasound findings and maternal serum biochemical (,triple test') markers among fetuses with trisomy 21 in the second trimester of pregnancy. Methods The study was a retrospective cohort study of 72 pregnancies affected by trisomy 21 who had a second trimester ultrasound and biochemical screen performed at a single center between 1990 and 1999. The biochemical screen consisted of alpha-fetoprotein (AFP), total beta human chorionic gonadotrophin (hCG) and estriol (uE3). Marker levels were expressed in multiples of the median (MoM). The ultrasound findings assessed were major structural anomalies, short humerus length, short femur length, increased nuchal fold thickness (NF), hyperechoic bowel, echogenic intracardiac focus (EIF), ventriculomegaly, choroid plexus cysts and renal pyelectasis. Results Second trimester maternal serum biochemical markers and ultrasound findings appeared to be largely independent of each other. However, some significant correlations were observed. Estriol was significantly lower when a fetal cystic hygroma was detected on ultrasound compared to those with no cystic hygroma (0.40 vs 0.70 MoM, p<0.05). The median hCG level was significantly lower in those pregnancies with a normal second trimester fetal ultrasound compared to those with positive ultrasound findings (2.07 vs 2.87 MoM, p<0.05). Median hCG levels were also significantly higher in those cases with NF,5,mm as compared to those with NF<5,mm (2.99 vs 2.49 MoM, p<0.05). This difference persisted after exclusion of the five cases with cystic hygromas (2.99 vs 2.49 MoM, p<0.05). A significant positive correlation was observed between log10 hCG and log10 NF MoM (Spearman's ,=0.252, p<0.05). NF was significantly greater among fetuses with an identifiable cardiac defect compared with those without a detectable cardiac defect (median of 7.0,mm vs 3.8,mm, p<0.01). This difference persisted when expressed as multiples of the median (2.8 vs 1.3 MoM, p<0.01). Conclusion Second trimester ultrasound and biochemical markers are largely independent in fetuses with trisomy 21, however significant correlations between the two were observed in the present series. These may be important in screening protocols that combine second trimester ultrasound and biochemical markers. Copyright © 2002 John Wiley & Sons, Ltd. [source] Maternal serum human chorionic gonadotrophin and pregnancy-associated plasma protein A in twin pregnancies in the first trimesterPRENATAL DIAGNOSIS, Issue 3 2002Marko Niemimaa Abstract Objectives To determine the levels of free ,-human chorionic gonadotrophin (,-hCG) and pregnancy-associated plasma protein A (PAPP-A) in twin pregnancies in the first trimester. Methods Serum samples were obtained from 67 pregnant women with twin pregnancies and maternal serum free ,-hCG and PAPP-A concentrations were compared with those of 4279 singleton controls between the 8th and 13th weeks of gestation. Results The geometric means of chromosomally normal twin pregnancies were 1.85 MoM for free ,-hCG and 2.36 MoM for PAPP-A. There were no cases affected by Down syndrome in either group. Conclusion Twin pregnancies secrete more PAPP-A than expected on the basis of singleton controls whereas free ,-hCG production is not increased. The results of the present study can be used to establish normal reference values when introducing first trimester Down syndrome screening in prenatal care. Copyright © 2002 John Wiley & Sons, Ltd. [source] The first trimester ,combined test' for the detection of Down syndrome pregnancies in 4939 unselected pregnanciesPRENATAL DIAGNOSIS, Issue 3 2002K. Schuchter Abstract The high detection rate (DR) for Down syndrome (DS) pregnancies which can be achieved by measuring fetal nuchal translucency (NT) early in pregnancy can be improved by combining it with placental hormones [pregnancy-associated plasma protein A (PAPP-A) and free ,-human chorionic gonadotrophin (f,-hCG)] and maternal age (,combined test'). In this study we wanted to assess the DR using the ,combined test' in an unselected population of self-referred pregnant women at a false-positive rate (FPR) of about 5%. NT, PAPP-A, f,-hCG and maternal age were measured in all women with singleton pregnancies who booked for delivery in our hospital from 1 December 1997 to 31 April 2000 and who were between 10 and 13 completed weeks of gestation [crown,rump length (CRL) 35,70,mm]. The specific DS risk was calculated using the computer program Alpha Version 5aa (Logical Medical Systems, London, UK). A total of 4939 women were tested. Out of 14 DS pregnancies that occurred during this period of time, 12 were detected with the test. A total of 246 women had a false-positive test result in a non-DS pregnancy (FPR 5.0%). This makes the ,combined test' by far the best test for the detection of DS pregnancies in a low-risk population. The constant increase in maternal age at the time of delivery can also lead to an improved DR if a simple age-dependant protocol for DS detection is used, but only at the price of a much higher number of amniocenteses and subsequent abortions. The DR for DS can be increased much more markedly using the ,combined test' with a FPR that still remains at the level as it was in the early 1970s. Copyright © 2002 John Wiley & Sons, Ltd. [source] | ||||||||||||||||||||||