M J Mahoney

Yale-New Haven Hospital, New Haven, Connecticut, United States

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Publications (109)872.16 Total impact

  • [show abstract] [hide abstract]
    ABSTRACT: In this study we report a new triple test that combines serum AFP, urine beta-core fragment of hCG, total urine estriol, and maternal age for calculating individual Down syndrome odds in the second trimester. The urine beta-core fragment/estriol ratio was used as a single screening variable. Analyte levels were measured prospectively in 10 Down syndrome cases and 346 normals. Individual Down syndrome odds were calculated by multiplying the product of the Down syndrome likelihood ratios of serum AFP and urine beta-core/estriol levels by the age-related midtrimester risk. The screening efficiency of an algorithm that combines urine beta-core/estriol with maternal age was compared to one that included serum AFP data. A 90% detection rate for Down syndrome was obtained at a 4.65% false positive rate. This was superior to the 75% sensitivity at 5% false positive rate observed when beta-core/estriol and age alone were used. This new triple test has a higher screening efficiency than that generally reported for the traditional serum triple screen and other urine tests, and it also provides information on the risk of neural tube defects. If confirmed in larger trials, the new algorithm could be used as an alternative to the traditional serum triple screen.
    The Journal of Maternal-Fetal Medicine 07/2009; 7(3):111-4.
  • Joe Leigh Simpson, Maurice J. Mahoney
    01/2008: pages 293 - 317; , ISBN: 9780470753293
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    ABSTRACT: The genetic sonogram is a composite algorithm combining multiple individual markers to increase Down syndrome risk prediction. Transformation of sonographic information into a standard mathematical format represented an early challenge that has now been surmounted. Using increasingly sophisticated mathematical techniques, individual patient risk can be estimated. High diagnostic accuracy comparable to standard mid-trimester serum algorithms has been reported. Most recently, a few studies have reported the ability to combine serum and biochemical markers to achieve diagnostic accuracy comparable to first-trimester screen. Even fewer studies have reported combinations of ultrasound and maternal urine markers. While it is clear that consistently high sensitivity and specificity for Down syndrome can be achieved, almost all the studies are based on high-risk groups. Studies in low-risk populations have suffered from lack of standardization. The relevance of genetic sonogram in a low-risk population thus remains to be proven. The most significant challenge, however, remains the development of uniform and reproducible sonographic and measurement standards. This is likely to be the most important factor in optimizing the accuracy of the mid-trimester genetic sonogram.
    Seminars in Perinatology 09/2005; 29(4):209-14. · 2.81 Impact Factor
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    ABSTRACT: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses. First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective multicenter National Institute of Child Health and Human Development study for Down syndrome prediction. The study, which was conducted between May 1998 and December 2000, was restricted to singleton pregnancies. Gestational age was determined by crown rump length measurements. Perinatal outcomes were determined and included the frequency of major congenital heart defect, which was defined as those cases that potentially could require surgery, intensive medical therapy, or prolonged follow-up time. Logistic regression analysis was used to determine whether nuchal translucency was a significant predictor of congenital heart defect. There were 8167 chromosomally normal pregnancies, of which 21 cases of major congenital heart defect were identified at follow-up examination (incidence, 2.6/1000 pregnancies). The risk of congenital heart defect rose with increasing nuchal translucency measurements. The mean nuchal translucency value for the normal and congenital heart defect groups were 1.5 mm and 1.9 mm, respectively (P = .05). With a nuchal translucency measurement of < 2.0 mm, the incidence of congenital heart defect was 13 of 6757 pregnancies (1.9 of every 1000 pregnancies). At 2.0 to 2.4 mm, the incidence was 5 of 1032 pregnancies (4.8 of every 1000 pregnancies). At 2.5 to 3.4 mm, the incidence was 2 of 335 pregnancies (6.0 of every 1000 pregnancies). At > or = 3.5 mm, the incidence was 1 of 43 pregnancies (23 of every 1000 pregnancies). Logistic regression analysis confirmed that nuchal translucency was associated significantly with congenital heart defect (odds ratio, 2.1; 95% CI, 1.4-3.1; P = .0004). Increased first trimester nuchal translucency measurement was associated with a higher risk of major congenital heart defect in chromosomally normal pregnancies. The practical implications of our findings are that patients with unexplained elevations of nuchal translucency may need referral for a fetal echocardiogram.
    American Journal of Obstetrics and Gynecology 05/2005; 192(5):1357-61. · 3.88 Impact Factor
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    ABSTRACT: To evaluate the potential relationship between placental disruption in weeks 13 and 14 and the subsequent development of gestational hypertension or preeclampsia. Using subjects recruited during a randomized trial funded by the National Institute of Child Health and Human Development, which compared early amniocentesis and late transabdominal chorionic villus sampling (CVS) in weeks 13 and 14, rates of gestational hypertension and preeclampsia were compared between cases with varying degrees of placental disruption. A total of 3,698 of 3,775 randomized subjects had cytogenetically normal pregnancies and were analyzed. A significantly higher rate of hypertension/preeclampsia was observed in the late CVS group (5.4%, n = 1,878) compared with the early amniocentesis cohort (3.5%, n = 1,820; P = .005). This difference persisted after controlling for maternal age, body mass index, parity, previous preterm delivery, smoking, and fetal gender. Early amniocentesis cases were further stratified on the basis of whether the placenta had been penetrated (n = 460) or not (n = 1,360). Risk of hypertensive complications was lowest if the placenta was not traversed (3.4%), greater with placental penetration (3.9%), and highest when the placenta was directly sampled during CVS (5.4%, P = .02). We hypothesize that focal disruption of the placenta at 13-14 weeks may increase the risk of hypertension/preeclampsia. These findings provide support for the theory that disturbances in early placentation lead subsequently to maternal hypertension.
    Obstetrics and Gynecology 04/2005; 105(3):587-92. · 4.80 Impact Factor
  • Ugeskrift for laeger 04/2005; 167(11):1293-6.
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    ABSTRACT: The purpose of this study was to determine the association between first-trimester trisomy 21 screening markers (free human chorionic gonadotropin-beta [hCG], pregnancy-associated plasma protein A [PAPP-A], and nuchal translucency) and adverse pregnancy outcome. This was a cohort study of 8012 patients enrolled in a National Institute of Child Health and Human Development-sponsored study of first-trimester trisomy 21 and 18 screening. Trisomy 21 and 18 risk results and individual marker levels in unaffected pregnancies and pregnancies with adverse outcomes were evaluated. PAPP-A <1st percentile (OR 5.4, 95% CI 2.8-10.3) and PAPP-A <5th percentile (OR 2.7, 95% CI 1.9-3.9) and free beta-hCG <1st percentile (OR 2.7, 95% CI 1.3-5.9) were associated with increased risk of intrauterine growth restriction (IUGR) with positive predictive values of 24.1%, 14.1%, and 14.3%, respectively. PAPP-A <5th percentile (OR 2.3 95% CI 1.1-4.7) and nuchal translucency >99th percentile (OR 3.5, 95% CI 1.1-11.3) were associated with increased risk of preterm delivery before 34 weeks. Increased risk at screening for trisomy 21 and 18 identified 16 of the 29 other chromosomal abnormalities (55%). Low free beta-hCG, low PAPP-A, and increased nuchal translucency were all associated with an increased rate of fetal abnormality. Extreme values of first-trimester free beta-hCG, PAPP-A, and nuchal translucency are all associated with adverse outcomes. The especially high predictive value for IUGR of PAPP-A levels below the 1st percentile suggests that patients within this group may benefit from increased surveillance for this condition.
    American Journal of Obstetrics and Gynecology 11/2004; 191(4):1452-8. · 3.88 Impact Factor
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    ABSTRACT: To evaluate the performance and use of second-trimester multiple-marker maternal serum screening for trisomy 21 by women who had previously undergone first-trimester combined screening (nuchal translucency, pregnancy-associated plasma protein A, and free beta-hCG), with disclosure of risk estimates. In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with alpha-fetoprotein, unconjugated estriol, and total hCG was performed in 4,145 (7 with trisomy 21) of 7,392 (9 with trisomy 21) women who were first-trimester screen-negative and 180 (7 with trisomy 21) of 813 (52 with trisomy 21) who were first-trimester screen-positive. Second-trimester risks were calculated using multiples of the median and a standardized risk algorithm with a cutoff risk of 1:270. Among the first-trimester screen-negative cohort, 6 of 7 (86%) trisomy 21 cases were detected by second-trimester multiple-marker maternal serum screening with a false-positive rate of 8.9%. Among the first-trimester screen-positive cohort, all 7 trisomy 21 cases were also detected in the second trimester, albeit with a 38.7% false-positive rate. Our data demonstrate that a sequential screening program that provides patients with first-trimester results and offers the option for early invasive testing or additional serum screening in the second trimester can detect 98% of trisomy 21-affected pregnancies. However, such an approach will result in 17% of patients being considered at risk and, hence, potentially having an invasive test. II-2
    Obstetrics and Gynecology 11/2004; 104(4):661-6. · 4.80 Impact Factor
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    ABSTRACT: To estimate the likelihood of clinical early and late pregnancy loss as a function of first-trimester maternal serum analytes and fetal nuchal translucency measurements. Study subjects were recruited for a National Institute of Child Health and Human Development-sponsored multicenter cohort study initially designed to study the detection of Down syndrome during the first trimester of pregnancy. The cohort consisted of women who had a live fetus between 10 and 14 weeks of gestation and had no significant vaginal bleeding. Women with prior fetal trisomy (T21/18) and those with structural or chromosomal abnormalities in the index pregnancy were excluded. First-trimester screening consisted of pregnancy-associated plasma protein A (PAPP-A), free beta-hCG, and nuchal translucency. Pregnancy loss rates in women with various levels of PAPP-A, free beta-hCG, or nuchal translucency (less than 1st, less than 5th, more than 95th, and more than 99th percentile) were compared with losses in women with normal values (5th to 95th percentile). The mean gestational age at screening of 7,932 women meeting study criteria was 12.1 weeks. Loss rates were only 0.36% at less than 20 weeks after normal free beta-hCG, PAPP-A, and nuchal translucency. Conversely, low levels of PAPP-A and free beta-hCG as well as increased nuchal translucency were individually associated with increased early loss. These associations persisted after controlling for maternal age and race using logistic regression analysis. Normal values of PAPP-A, free beta-hCG, and nuchal translucency are associated with a very low risk of pregnancy loss at less than 20 weeks.
    Obstetrics and Gynecology 08/2004; 104(1):30-6. · 4.80 Impact Factor
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    ABSTRACT: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic analysis was employed. The primary outcome measure was a composite of fetal loss plus preterm delivery before 28 weeks of gestation in cytogenetically normal pregnancies. We randomized 3,775 women into 2 groups (1,914 to CVS; 1,861 to amniocentesis), which were comparable at baseline. More than 99.6% had the assigned procedure, and 99.9% were followed through delivery. In contrast to previous thinking, in the cytogenetically normal cohort (n = 3,698), no difference in primary study outcome was observed: 2.1% (95% confidence interval 1.5, 2.8) for CVS and 2.3% (95% confidence interval, 1.7, 3.1) for amniocentesis. However, spontaneous losses before 20 weeks and procedure-related, indicated terminations combined were increased in the amniocentesis group (P =.07, relative risk 1.74). We found a 4-fold increase in the rate of talipes equinovarus after amniocentesis (P =.02) overall and in week 13 (P =.03, relative risk = 4.65), but data were insufficient to determine this risk in week 14. Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss. I
    Obstetrics and Gynecology 07/2004; 103(6):1164-73. · 4.80 Impact Factor
  • American Journal of Obstetrics and Gynecology - AMER J OBSTET GYNECOL. 01/2004; 191(6).
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    ABSTRACT: Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 percent. First-trimester markers of aneuploidy have been developed, but their use in combination has not been adequately evaluated in clinical practice. We conducted a multicenter study of screening for trisomies 21 and 18 among patients with pregnancies between 74 and 97 days of gestation, based on maternal age, maternal levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A, and ultrasonographic measurement of fetal nuchal translucency. A screening result was considered to be positive for trisomy 21 if the calculated risk was at least 1 in 270 pregnancies and positive for trisomy 18 if the risk was at least 1 in 150. Screening was completed in 8514 patients with singleton pregnancies. This approach to screening identified 85.2 percent of the 61 cases of Down's syndrome (95 percent confidence interval, 73.8 to 93.0), with a false positive rate of 9.4 percent (95 percent confidence interval, 8.8 to 10.1). At a false positive rate of 5 percent, the detection rate was 78.7 percent (95 percent confidence interval, 66.3 to 88.1). Screening identified 90.9 percent of the 11 cases of trisomy 18 (95 percent confidence interval, 58.7 to 99.8), with a 2 percent false positive rate. Among women 35 years of age or older, screening identified 89.8 percent of fetuses with trisomy 21, with a false positive rate of 15.2 percent, and 100 percent of fetuses with trisomy 18. First-trimester screening for trisomies 21 and 18 on the basis of maternal age, maternal levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A, and measurement of fetal nuchal translucency has good sensitivity at an acceptable false positive rate.
    New England Journal of Medicine 11/2003; 349(15):1405-13. · 51.66 Impact Factor
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    ABSTRACT: Experience gathered over the last decade from high-risk centers provide strong evidence that mid-trimester sonographic markers are sensitive for Down syndrome prediction. More recent data indicate that combining mid trimester sonography with traditional serum markers significantly improves diagnostic accuracy over either group of markers by themselves.
    Seminars in Perinatology 05/2003; 27(2):145-51. · 2.81 Impact Factor
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    ABSTRACT: The purpose of this study was to determine the Down syndrome sensitivity of early genetic sonography (14-<16 weeks of gestation) and to compare its diagnostic accuracy with that later in the mid trimester (16-24 weeks of gestation). Nuchal thickness, humerus and femur lengths, hyperechoic bowel, hypoplastic fifth digit (clinodactyly), and any gross anatomic defects were measured or ascertained in singleton pregnancies that were undergoing genetic amniocentesis. Multiple stepwise logistic regression analysis was used to determine the significant sonographic markers for Down syndrome detection in each group. Multivariate gaussian algorithms that included maternal age were used to estimate patient-specific Down syndrome risk. Sensitivity and false- positive rates, receiver-operating characteristic curves, and area under the curves were calculated and compared for both groups. There were 1,727 pregnancies with 22 Down syndrome fetuses (1.27%) in the early group versus 3,914 pregnancies with 86 Down syndrome fetuses (2.2%) in the later group. The mean +/- SD ages were 15.5 +/- 0.4 weeks versus 17.6 +/- 1.4 weeks, respectively. Early genetic sonography (14-<16 weeks) had a 100% detection rate, with a 21.2% false-positive rate. The early versus later genetic sonography had an 81.8% versus 61.6% detection rate, respectively, at a fixed 4.8% false-positive rate. Early sonography had significantly higher diagnostic accuracy (area under the curve, 0.962 vs 0.871, respectively; P =.005). In fetuses at 14 to 15 weeks, the genetic sonography was also highly accurate, with 100% detection with a 21.9% false-positive rate. Early genetic sonography is highly sensitive and statistically superior to later ultrasonography for Down syndrome detection. Early midtrimester sonography achieved a diagnostic accuracy similar to that currently reported for first-trimester nuchal translucency.
    American Journal of Obstetrics and Gynecology 11/2002; 187(5):1235-8. · 3.88 Impact Factor
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    ABSTRACT: The purpose of this study was to develop a highly sensitive algorithm for midtrimester Down syndrome detection. Urine (hyperglycosylated human chorionic gonadotropin, beta-core fragment of human chorionic gonadotropin), serum (alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol [uE(3)]), and ultrasound biometry (nuchal thickness, humerus length, the presence of gross ultrasonographic anomalies), and maternal age were measured at genetic amniocentesis. Stepwise logistic regression analysis was used to identify the most significant markers. A multivariate Gaussian algorithm plus age was used to derive patient-specific Down syndrome risk. Sensitivity and false-positive rates at different risk thresholds and the area under the receiver-operating characteristic curve were determined. A probability value of <.05 was significant. There were 568 study cases with 17 Down syndrome cases (3.0%). The mean (+/-SD) maternal and gestational ages for the study group were 36.9 (+/-3.5) years and 16.2 (+/-1.4) weeks, respectively. The significant markers were nuchal thickness (P =.0001), hyperglycosylated human chorionic gonadotropin(P <.001), and beta-core fragment (P <.002). Neither maternal age nor gross sonographic anomaly contributed significantly to Down syndrome detection. The comprehensive midtrimester test was extremely efficient for Down syndrome detection in advanced maternal age only cases with a sensitivity of 92.3% at a 0.8% false-positive rate. In women <35 years old, all the Down syndrome cases were detected at 2.2% false positive rate. For the overall population, the sensitivity was 93.7% at 5% false-positive rate. In a preliminary study, the comprehensive midtrimester test appeared highly sensitive in different age groups. Gross anomaly detection was not required for high performance, which makes the comprehensive midtrimester test potentially suitable for low-risk screening and as an alternative to amniocentesis in women who wish to avoid the procedure. This was a small study; thus, the clinical value of this test can only be established in large trials.
    American Journal of Obstetrics and Gynecology 04/2002; 186(4):803-8. · 3.88 Impact Factor
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    ABSTRACT: Ultrasonographic biometry markers are now being used clinically to adjust Down syndrome risk. The limitations are that the definitions of "abnormal" measurements used are arbitrary, thus reducing screening performance, and also that patient-specific Down syndrome risks cannot be calculated. We report a new ultrasonographic algorithm that is sensitive for Down syndrome detection and that estimates individual risk. Overall in fetal populations with Down syndrome the humerus length is decreased, whereas the nuchal thickness is increased relative to that of a normal population. The nuchal thickness/humerus length ratio therefore shows an even greater increase and magnifies the separation between Down syndrome and healthy groups. Prospective data were collected in midtrimester amniocentesis cases. A regression equation for the median nuchal thickness/humerus length ratio based on biparietal partial diameter was generated. The Down syndrome likelihood ratio, or the odds on the basis of the nuchal thickness/humerus length ratio (multiples of the median), was multiplied by the age-related risk to give the posterior Down syndrome risk. Charts for rapid estimation of individual Down syndrome risk on the basis of maternal age and the nuchal thickness/humerus length ratio were constructed. There were 94 cases of Down syndrome and 4700 cases in which the karyotype was normal. The mean (+/-SD) gestational age of the study population was 16.1 +/- 1.6 weeks. Thirty-three fetuses with Down syndrome and 68 karyotypically normal fetuses had gross anomalies. The equation for the expected median nuchal thickness/humerus length ratio was as follows: 10e(1.7163 - 0.0292) x BPD + 0.0003 x BPD2, where BPD is the biparietal diameter. In the overall study population the nuchal thickness/humerus length ratio and maternal age had a 79.8% detection rate at a 22.1% false-positive rate, compared with maternal age plus humerus length (sensitivity, 55.1%) or maternal age plus nuchal thickness (sensitivity, 66.7%) at the same false-positive rate. For women > or =35 years old the values were 80% and 22.0%, respectively. We report an ultrasonographic biometry algorithm that, in combination with maternal age, detects 79.6% of Down syndrome cases in a high-risk group. Individual Down syndrome risk can be quickly calculated at the bedside and made available to women who desire this information before making a decision on amniocentesis. On the basis of published standards, ultrasonographic biometry as described would be a cost-effective alternative to amniocentesis in this high-risk group.
    American Journal of Obstetrics and Gynecology 05/2001; 184(6):1284-8. · 3.88 Impact Factor
  • American Journal of Obstetrics and Gynecology - AMER J OBSTET GYNECOL. 01/2001; 185(6).
  • American Journal of Obstetrics and Gynecology - AMER J OBSTET GYNECOL. 01/2001; 185(6).
  • [show abstract] [hide abstract]
    ABSTRACT: Both modest screening performance and declining patient and physician acceptance have stimulated interest in alternative markers to the triple screen for the detection of Down syndrome. Our purpose was to compare the concentration of a single urinary analyte, hyperglycosylated human chorionic gonadotropin, with the serum triple screen (alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol concentrations combined with age) for second-trimester Down syndrome detection. Urine and blood were obtained from pregnant women in the second trimester undergoing genetic amniocentesis. Urinary hyperglycosylated human chorionic gonadotropin concentration and serum triple-screen values were measured. Individuals undergoing amniocentesis because of abnormal triple-screen results were excluded. Individual Down syndrome risks on the basis of urinary hyperglycosylated human chorionic gonadotropin concentration plus maternal age and on the basis of the triple-screen results were calculated. For each algorithm the sensitivity and false-positive rate for Down syndrome detection at different risk thresholds were determined. From these values receiver operating characteristic curves were constructed, and the area under the curve was determined for each algorithm. Finally, the performance of a new combination in which urinary hyperglycosylated human chorionic gonadotropin concentration replaced serum human chorionic gonadotropin concentration in the triple screen was ascertained. We studied 24 pregnancies complicated by Down syndrome and 500 unaffected pregnancies between 14 and 22 weeks' gestation in a mostly white (93.5%) population undergoing amniocentesis primarily because of advanced maternal age. The sensitivity and false-positive rate for urinary hyperglycosylated human chorionic gonadotropin concentration were 75. 0% and 5.6%, respectively, whereas those for the triple screen were 75.0% and 33.2%, respectively. Urinary hyperglycosylated human chorionic gonadotropin concentration was superior to the triple screen (area under the curve, 0.9337 vs 0.7887; P =.02). The substitution of urinary hyperglycosylated human chorionic gonadotropin concentration for serum human chorionic gonadotropin concentration in the triple screen resulted in a 91.7% sensitivity at a 10.0% false-positive rate, versus a 54.2% sensitivity for the traditional triple screen at the same false-positive rate. The performance of urinary hyperglycosylated human chorionic gonadotropin concentration was statistically superior to that of the serum triple screen in a high-risk population. The use of urinary hyperglycosylated human chorionic gonadotropin concentration as an alternative test or substitution of this measurement for serum human chorionic gonadotropin concentration in the triple screen would improve diagnostic accuracy and address many current concerns related to the triple screen.
    American Journal of Obstetrics and Gynecology 12/2000; 183(5):1114-8. · 3.88 Impact Factor
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    ABSTRACT: To evaluate measurement of levels of urine hyperglycosylated hCG, a form of hCG with abnormally branched oligosaccharide side chains, in conjunction with ultrasound biometry for Down syndrome risk prediction in an at-risk group. We prospectively measured urine hyperglycosylated hCG levels, humeral length, and nuchal thickness in women who had second-trimester amniocentesis. Urine hyperglycosylated hCG levels were measured by a two-step enzyme-immunometric assay using monoclonal antibody beta152. Humeral length, nuchal thickness, and hyperglycosylated hCG values were expressed as multiples of the median, and the Down syndrome screening efficiency of the three analytes plus age was determined. A receiver operating characteristic (ROC) curve was generated, and the area under the curve was used to assess the Down syndrome screening performance of the algorithm. There were 23 cases of Down syndrome among 1016 singleton pregnancies. Mean gestational age (+/- standard deviation) was 16.1 +/- 1.2 weeks at the time of amniocentesis. Mean maternal age was 37.1 +/- 3.2 years. Biometry and measurement of hyperglycosylated hCG levels had a 91.3% detection rate at a 3.2% false-positive rate and a 100% detection rate at a 10.7% false-positive rate. The area under the ROC curve was 0.986 (P <.001), and that for measurement of hyperglycosylated hCG levels plus age was 0.941 (P <.001). The area under the curve was significantly larger with combined biochemical and biometry markers compared with measurement of hyperglycosylated hCG levels plus age alone (P <.02), proving that the former was superior to the latter. A new Down syndrome biochemical marker combined with ultrasound biometry had a high screening efficiency in a high-risk group. All cases of Down syndrome in this study population would have been detected at an amniocentesis rate of less than 10.7%. Our results appear superior to those found with other second-trimester algorithms. The combination is promising as an alternative to "automatic" genetic amniocentesis in women of advanced maternal age and other high-risk groups.
    Obstetrics and Gynecology 07/2000; 95(6 Pt 1):889-94. · 4.80 Impact Factor

Publication Stats

3k Citations
872.16 Total Impact Points

Institutions

  • 1985–2009
    • Yale-New Haven Hospital
      New Haven, Connecticut, United States
  • 2008
    • Loyola University Maryland
      Baltimore, Maryland, United States
  • 2003–2005
    • University of Cincinnati
      • Department of Obstetrics and Gynecology
      Cincinnati, OH, United States
  • 1984–2005
    • Yale University
      • • Department of Genetics
      • • Department of Laboratory Medicine
      New Haven, Connecticut, United States
  • 2004
    • Baylor College of Medicine
      Houston, Texas, United States
  • 1998
    • Thomas Jefferson University
      • Department of Obstetrics & Gynecology
      Philadelphia, PA, United States
  • 1990
    • Bridgeport Hospital
      Bridgeport, Connecticut, United States
  • 1988
    • Danbury Hospital
      Danbury, Connecticut, United States