Maurice J Mahoney
Department of Genetics, Yale University School of Medicine, New Haven, CT, United States | Department of Genetics, School of Medicine, Yale University, New Haven, CT, USA | ...
KOL Resume for Maurice J Mahoney
Department of Genetics, Yale University School of Medicine, New Haven, CT, United States
Department of Genetics, School of Medicine, Yale University, New Haven, CT, USA
Departments of Genetics, Pediatrics, and Obstetrics & Gynecology, Yale University School of Medicine, New Haven, Connecticut
Department of Genetics, Yale University, New Haven, Connecticut, USA
Yale University, Department of Obstetrics and Gynecology, Stratford, CT
Department of Genetics, Yale School of Medicine, New Haven, Connecticut
Department of Genetics, Yale University School of Medicine, P.O. Box 208005, New Haven, CT 06520-8005, USA
From Genetic Services and Molecular Diagnostic Laboratory, Genzyme Genetics, Westborough, Massachusetts; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Department of Genetics, Yale University School of Medicine, New Haven, CT
Yale University, New Haven, Conn
From the *Rigshospitalet, Copenhagen, Denmark; †Evanston Hospital of Northwestern University Medical School, Evanston, Illinois; ‡BC Women's Hospital, Vancouver, BC; §The Biostatistics Center, George Washington University, Rockville, Maryland; ¶McMaster University Medical Centre, Hamilton, Ontario; ∥Yale University, New Haven, Connecticut; **Baylor College of Medicine, Houston, Texas; ††Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California; ‡‡Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois; §§Prenatal Diagnosis of Northern California Medical Group, Sacramento, California; ¶¶UCLA Center for the Health Sciences, Los Angeles, California; ∥∥Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan; ***University of Tennessee, Memphis, Tennessee; and †††Drexel University College of Medicine, Philadelphia, Pennsylvania.
Yale University, New Haven, Conn. (M.M.)
Department of Obstetrics and Gynecology, University of Cincinnati, OH. 45 267-0526, USA
New Haven, Conn, Albuquerque, NM, and Mersin, Turkey
From the Departments of Obstetrics and Gynecology, Yale University School of Medicine,a Akdeniz University,b Chosun University Hospital,c and Mersin University.d
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Yale University School of Medicine. New Haven, Connecticut
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut, USA
Department of Obstetrics and Gynecology, Yale University School Of Medicine. New Haven, Connecticut
Genetics, Yale University School of Medicine, New Haven, CT 06510
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510, U.S.A.
New Haven, Connecticut
New Haven, Connecticut, New York, New York,and Los Angeles, California
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, U.S.A
Section of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Yale University School of Medicine New Haven, Connecticut, USA
Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Yale University School of Medicine, P.O. Box 208063, New Haven, CT 06520‐8063, U.S.A
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Northwestern University and Illinois Masonic Hospital, Chicago, IL
Yale University, New Haven, CT
University of California at San Francisco, San Francisco, CA
Baylor College of Medicine, Houston, TX
National Institutes of Health, Belhesda, MD, U.S.A.
Department of Human Genetics, Yale University School of Medicine, P.O. Box 333, New Haven, CT 06510, U.S.A.
Division of Maternal‐Fetal Medicine, Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT, U.S.A.
Yale University, New Haven, Connecticut
Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut
Yale Fetal Cardiovascular Center, Department of Obstetrics and Gynecology, Yale University School of Medicine New Haven, Connecticut, USA.
The Departments of Obstetrics and Gynecology and of Genetics, Yale University School of Medicine, New Haven, Connecticut
Department of Human Genetics, P.O. Box 3333 New Haven, CT 06510, U.S.A
Departments of Obstetrics and Gynecology and Human Genetics, Yale University School of Medicine, New Haven, Connecticut
The Departments of Obstetrics and Gynecology and Human Genetics, Yale University School of Medicine, New Haven, Connecticut
the Department of Neonatology, Arnot-Ogden Memorial Hospital Elmira, New York USA.
Department of Human Genetics, Yale Medical School, United Kingdom
Maurice J Mahoney: Influence Statistics
|cases clinical challenges||#1|
|methylmalonic acid 23||#1|
|roc analysis cent||#1|
|extra derivative chromosome||#1|
|gonadotropin chromosomes prenatal||#1|
|surgical intervention delivery||#1|
|trisomy calculated risk||#1|
|cystic newborn lymphangioma||#1|
|methylmalonic acid content||#1|
|mma amniotic fluids||#1|
|urea valerates acidosis||#1|
|ultrasonography prenatal alphafetoproteins||#1|
|women syndrome cases||#1|
|substitution triple screen||#1|
|maternal urine testing||#1|
|midtrimester sonographic markers||#1|
|infancy cbl patients||#1|
|fetal biopsy fetoscopy||#1|
|cases 60 microliters||#1|
|triple screen test||#1|
|studies risk groups||#1|
|controlled directvision blood||#1|
|trisomy 15 fibroblasts||#1|
|adr genomic disorders||#1|
|initially unknown origin||#1|
|metabolism accurate culturing||#1|
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Prominent publications by Maurice J Mahoney
Association of extreme first-trimester free human chorionic gonadotropin-β, pregnancy-associated plasma protein A, and nuchal translucency with intrauterine growth restriction and other adverse pregna
[ PUBLICATION ]
OBJECTIVE: 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.
STUDY DESIGN: 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 ...
|Known for Nuchal Translucency | Intrauterine Growth Restriction | Trimester Free | Plasma Protein | Adverse Pregnancy|
The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities
[ PUBLICATION ]
Chorionic villus sampling is a method of prenatal diagnosis in the first trimester of pregnancy in which tissue for genetic study is aspirated from the developing placenta by means of a catheter inserted transcervically under the guidance of ultrasonography. In this seven-center study, we compared the safety and efficacy of chorionic villus sampling in 2278 women with those of amniocentesis at 16 weeks' gestation in 671 women. Both groups were made up primarily of well-educated private ...
|Known for Chorionic Villus Sampling | Women Amniocentesis | Cytogenetic Abnormalities | Trimester Pregnancy | Early Prenatal Diagnosis|
First-Trimester Screening for Trisomies 21 and 18
[ PUBLICATION ]
BACKGROUND: 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.
METHODS: 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 ...
|Known for Trimester Screening | False Positive Rate | Trisomies 21 | Beta Subunit | Human Pair|
Cytogenetic results from the U.S. collaborative study on CVS
[ PUBLICATION ]
Cytogenetic data are presented for 11,473 chorionic villus sampling (CVS) procedures from nine centres in the U.S. NICHD collaborative study. A successful cytogenetic diagnosis was obtained in 99.7 per cent of cases, with data obtained from the direct method only (26 per cent), culture method only (42 per cent), or a combination of both (32 per cent). A total of 1.1 per cent of patients had a second CVS or amniocentesis procedure for reasons related to the cytogenetic diagnostic ...
|Known for Culture Method | Collaborative Study | Cases Mosaicism | Maternal Cell Contamination | Trisomy Case|
Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: A new basis for gestational Down syndrome screening.
[ PUBLICATION ]
BACKGROUND: Serum human chorionic gonadotropin (hCG) and hCG free beta-subunit tests are used in combination with unconjugated estriol and alpha-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: approximately 40% for hCG or free beta-subunit alone, approximately 60% for the triple screen test, and approximately ...
|Known for Syndrome Screening | Invasive Trophoblast Antigen | Hyperglycosylated Hcg | Chorionic Gonadotropin | Trimester Pregnancy|
Variable results have been reported using urine beta-core fragment as a marker for fetal Down syndrome. Initial studies by Cuckle et al. (1994) and Canick et al. (1995) indicated that beta-core fragment was an outstanding marker, detecting >80 per cent of Down syndrome cases. Since these reports, widely varying results have been published, indicating between 20 per cent and 66 per cent detection of cases at 5 per cent false-positive rate. The wide variation in the reported data has led ...
|Known for Core Fragment | Syndrome Cases | Median Mom | Urinary Screening Tests | Urine Samples|
An alternative for women initially declining genetic amniocentesis: Individual Down syndrome odds on the basis of maternal age and multiple ultrasonographic markers
[ PUBLICATION ]
OBJECTIVE: Our purpose was to develop a method of calculating the individual odds of Down syndrome on the basis of a combination of maternal age and multiple ultrasonographic parameters that can be used to counsel women at high risk who initially decline amniocentesis.
STUDY DESIGN: Maternal age and ultrasonographic biometry data were collected prospectively on 3254 normal and 30 Down syndrome singleton fetuses between 15 and 24 weeks' gestation. Humerus length data were expressed as ...
|Known for Maternal Age | Likelihood Ratios | Humerus Length | Ultrasonographic Parameters | Genetic Amniocentesis|
The Stable Isotope Dilution Method for Measurement of Methylmalonic Acid: a Highly Accurate Approach to the Prenatal Diagnosis of Methylmalonic Acidemia
[ PUBLICATION ]
Summary: We report a stable isotope dilution method for the accurate measurement of methylmalonic acid (MMA) in amniotic fluid and its successful application to the prenatal diagnosis of methylmalonic acidemia. The stable isotopically-labeled analogue of MMA, (2-[2H3]methyl)malonic acid, was synthesized and used as an internal standard. Samples were extracted, methylated, and analyzed by chemical ionization gas chromatography-mass spectrometry (CI-GC-MS) operated in the selected ion ...
|Known for Prenatal Diagnosis | Methylmalonic Acid | Isotope Dilution | Amniotic Fluid | Normal Pregnant Women|
OBJECTIVE: 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.
METHODS: In a multicenter, first-trimester screening study sponsored by the National Institute of Child Health and Human Development, multiple-marker maternal serum screening with ...
|Known for Trimester Screening | Trisomy 21 | Sequential Pathways | United States | Total Hcg|
Screening for Fetal Down's Syndrome in Pregnancy by Measuring Maternal Serum Alpha-Fetoprotein Levels
[ PUBLICATION ]
Although the risk of Down's syndrome increases with maternal age, women under 35 bear about 80 percent of the infants born with this condition. We prospectively investigated the utility of measuring maternal serum alpha-fetoprotein during the second trimester in women under 35 in order to identify pregnancies in which the fetus was affected with Down's syndrome. Over a two-year period, 34,354 women in this age group were screened. Amniocentesis was offered when the risk of Down's ...
|Known for Women Risk | Downs Syndrome | Maternal Serum | Age Pregnancy | Fetoprotein Levels|
Elevated maternal urine level of β-core fragment of human chorionic gonadotropin versus serum triple test in the second-trimester detection of Down syndrome
[ PUBLICATION ]
OBJECTIVE: This study was undertaken to compare the Down syndrome screening efficiency of elevated maternal urine level of the beta-core fragment of human chorionic gonadotropin with that of the traditional serum triple test.
STUDY DESIGN: Urinary beta-core fragment and serum analyte levels were measured prospectively in women with singleton pregnancies who were undergoing second-trimester genetic amniocentesis. Urinary analyte levels were measured within a week of specimen collection. ...
|Known for Serum Triple | Human Chorionic | Core Fragment | Syndrome Screening | Beta Subunit|
Pregnancy-Associated Plasma Protein A, Free β-hCG, Nuchal Translucency, and Risk of Pregnancy Loss
[ PUBLICATION ]
OBJECTIVE: 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.
METHODS: 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 ...
|Known for Nuchal Translucency | Pregnancy Loss | Plasma Protein | Beta Subunit | Gestational Age|
Normal nuchal thickness inthe midtrimester indicates reduced risk of Down syndrome in pregnancies with abnormal triple-screen results
[ PUBLICATION ]
OBJECTIVE: Our purpose was to determine whether nuchal thickness measurement can identify the euploid fetuses in midtrimester pregnancies at increased risk for Down syndrome on the basis of maternal age and serum screening.
STUDY DESIGN: Nuchal thickness was obtained prospectively in 651 consecutive fetuses at 14 to 21 weeks' gestation and at > or = 1:270 risk for Down syndrome on the basis of unconjugated estriol, alpha-fetoprotein, and human chorionic gonadotropin levels. The risk of ...
|Known for Nuchal Thickness | Risk Syndrome | Basis Maternal Age | Abnormal Triple | Euploid Fetuses|
Hyperglycosylated hCG is a form of hCG with more complex oligosaccharide side chains. A specific immunoassay was developed to measure hyperglycosylated hCG. Levels were measured in urine samples from 1157 women between 11 to 22 weeks of gestation, undergoing genetic analysis because of advanced maternal age. Values were normalized to urine creatinine concentration and plotted against gestational age, median values were determined and multiples of the control median (MoM) calculated. The ...
|Known for Hyperglycosylated Hcg | Urine Samples | Syndrome Cases | Median Mom | Creatinine Concentration|
Elevated first-trimester nuchal translucency increases the risk of congenital heart defects
[ PUBLICATION ]
OBJECTIVE: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses.
STUDY DESIGN: 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 ...
|Known for Nuchal Translucency | Heart Defect | 13 Weeks | Risk Congenital | Pregnancy Trimester|
Key People For Prenatal Diagnosis
Maurice J Mahoney:Expert Impact
Concepts for whichMaurice J Mahoneyhas direct influence:Prenatal diagnosis, Nuchal thickness, Syndrome detection, Maternal age, Nuchal translucency, Triple screen, Chorionic villus sampling, Vitamin b12.
Maurice J Mahoney:KOL impact
Concepts related to the work of other authors for whichfor which Maurice J Mahoney has influence:Prenatal diagnosis, Gestational age, Chorionic villus sampling, Cystic hygroma, Pregnancy trimester, Nuchal translucency, Amniotic fluid.
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