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1. Full Text Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
by Norton, Mary E., MD|Brar, Herb, MD|Weiss, Jonathan, MD|Karimi, Ardeshir, MD|Laurent, Louise C., MD, PhD|Caughey, Aaron B., MD, PhD|Rodriguez, M. Hellen, MD|Williams, John, MD|Mitchell, Michael E., MD|Adair, Charles D., MD|Lee, Hanmin, MD|Jacobsson, Bo, MD|Tomlinson, Mark W., MD|Oepkes, Dick, MD, PhD|Hollemon, Desiree, MSN, MPH|Sparks, Andrew B., PhD|Oliphant, Arnold, PhD|Song, Ken, MD
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2012, Volume 207, Issue 2, pp. 137.e1 - 137.e8
Objective We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). Study Design A multicenter cohort... 
Obstetrics and Gynecology | aneuploidy detection | noninvasive prenatal diagnosis | Down syndrome | trisomy | cell-free fetal DNA | 1ST-TRIMESTER | MATERNAL PLASMA | DNA | DOWN-SYNDROME | OBSTETRICS & GYNECOLOGY | Predictive Value of Tests | Prospective Studies | Risk Assessment | Humans | Middle Aged | Chromosomes, Human, Pair 21 - genetics | DNA - blood | Pregnancy | Young Adult | Trisomy - diagnosis | Algorithms | Trisomy - genetics | Sensitivity and Specificity | Adolescent | Adult | Female | Down Syndrome - diagnosis | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Research | Pregnant women | Analysis | Index Medicus | Abridged Index Medicus
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2. Full Text Common variants conferring risk of schizophrenia
by Stefansson, Hreinn and Ophoff, Roel A and Steinberg, Stacy and Aneassen, Ole A and Cichon, Sven and Rujescu, Dan and Werge, Thomas and Pietiläinen, Olli P. H and Mors, Ole and Mortensen, Preben B and Sigurdsson, Engilbert and Gustafsson, Omar and Nyegaard, Mette and Tuulio-Henriksson, Annamari and Ingason, Anes and Hansen, Thomas and Suvisaari, Jaana and Lonnqvist, Jouko and Paunio, Tiina and Børglum, Anders D and Hartmann, Annette and Fink-Jensen, Anders and Nordentoft, Merete and Hougaard, David and Norgaard-Pedersen, Bent and Böttcher, Yvonne and Olesen, Jes and Breuer, René and Möller, Hans-Jürgen and Giegling, Ina and Rasmussen, Henrik B and Timm, Sally and Mattheisen, Manuel and Bitter, István and Réthelyi, János M and Magnusdottir, Brynja B and Sigmundsson, Thordur and Olason, Pall and Masson, Gisli and Gulcher, Jeffrey R and Haraldsson, Magnus and Fossdal, Ragnheidur and Thorgeirsson, Thorgeir E and Thorsteinsdottir, Unnur and Ruggeri, Mirella and Tosato, Sarah and Franke, Barbara and Strengman, Eric and Kiemeney, Lambertus A and Melle, Ingrid and Djurovic, Srdjan and Abramova, Lilia and Kaleda, Vasily and Sanjuan, Julio and de Frutos, Rosa and Bramon, Elvira and Vassos, Evangelos and Fraser, Gillian and Ettinger, Ulrich and Picchioni, Marco and Walker, Nicholas and Toulopoulou, Timi and Need, Anna C and Ge, Dongliang and Yoon, Joeng Lim and Shianna, Kevin V and Freimer, Nelson B and Cantor, Rita M and Murray, Robin and Kong, Augustine and Golimbet, Vera and Carracedo, Angel and Arango, Celso and Costas, Javier and Jönsson, Erik G and Terenius, Lars and Agartz, Ingrid and Petursson, Hannes and Nöthen, Markus M and Rietschel, Marcella and Matthews, Paul M and Muglia, Pieranea and Peltonen, Leena and St Clair, David and Goldstein, David B and Stefansson, Kari and Collier, David A and Kahn, René S and Linszen, Don H and van Os, Jim and Wiersma, Durk and Bruggeman, Richard and Cahn, Wiepke and de Haan, Lieuwe and Krabbendam, Lydia and Myin-Germeys, Inez and GROUP and Genetic Risk and Outcome in Psychosis (GROUP)
Nature, ISSN 0028-0836, 2009, Volume 460, Issue 7256, pp. 744 - 747
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally... 
NEUROGRANIN | POPULATION | DISEASES | MENTAL-RETARDATION | GENE | MEMORY | MULTIDISCIPLINARY SCIENCES | 1Q21.1 | SCAN | DELETIONS | GENOME-WIDE ASSOCIATION | Neurogranin - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Transcription Factor 4 | Major Histocompatibility Complex - genetics | Humans | Genotype | Chromosomes, Human, Pair 11 - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomes, Human, Pair 6 - genetics | Genome, Human - genetics | Schizophrenia - immunology | Schizophrenia - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | Chromosomes, Human, Pair 18 - genetics | Major histocompatibility complex | Schizophrenia | Development and progression | Genetic aspects | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Celiac disease | Genetics | Disease | Autoimmune diseases | Mass spectrometry | Index Medicus
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3. Full Text Validation of targeted sequencing of single‐nucleotide polymorphisms for non‐invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
by Nicolaides, K. H and Syngelaki, A and Gil, M and Atanasova, V and Markova, D
Prenatal Diagnosis, ISSN 0197-3851, 06/2013, Volume 33, Issue 6, pp. 575 - 579
What's already known about this topic? A novel, effective method of screening for trisomies 21, 18, and 13 is derived from examination of cell‐free DNA in... 
DIAGNOSIS | IMPACT | MATERNAL PLASMA | GENETICS & HEREDITY | RISK | FETAL DNA | TRISOMY-21 | OBSTETRICS & GYNECOLOGY | Chromosome Disorders - blood | Chromosomes, Human, Pair 13 - genetics | Chromosomes, Human, X - genetics | Humans | Middle Aged | Aneuploidy | Chromosomes, Human, Pair 21 - genetics | Chromosomes, Human, Y - genetics | Young Adult | Sensitivity and Specificity | Adolescent | Chromosome Disorders - diagnosis | Adult | Female | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 18 - genetics | Pregnancy - blood | Prenatal Diagnosis - methods | Sequence Analysis, DNA - methods | Chromosome Disorders - genetics | Genetic research | Genetic aspects | Algorithms | Pregnant women | Chromosomes | Analysis | Index Medicus
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4. Full Text Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies
by Zhang, H and Gao, Y and Jiang, F and Fu, M and Yuan, Y and Guo, Y and Zhu, Z and Lin, M and Liu, Q and Tian, Z and Zhang, H and Chen, F and Lau, T. K and Zhao, L and Yi, X and Yin, Y and Wang, W
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 05/2015, Volume 45, Issue 5, pp. 530 - 538
Linked Comment: Ultrasound Obstet Gynecol 2015; 45: 512–513 
cell‐free | false negative | clinical performance | DNA | low‐risk population | mosaicism | CNV | NIPT | trisomy | false positive | cell-free DNA | low-risk population | DIAGNOSIS | ABNORMALITIES | TRISOMY-13 | RISK | FREE FETAL DNA | OBSTETRICS & GYNECOLOGY | ACOUSTICS | ANEUPLOIDY | POSITION | FRACTION | MATERNAL PLASMA | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Chromosomes, Human, Pair 13 - genetics | Follow-Up Studies | Humans | Genetic Testing - methods | DNA Methylation | Chromosome Disorders - diagnosis | Adult | Female | Down Syndrome - diagnosis | Infant, Newborn | Reproducibility of Results | Prenatal Diagnosis | China - epidemiology | Chromosome Disorders - embryology | Maternal Serum Screening Tests | DNA - genetics | Pregnancy | Down Syndrome - embryology | Trisomy - diagnosis | Trisomy - genetics | Cell-Free System | Down Syndrome - genetics | Trisomy 18 Syndrome | Trisomy 13 Syndrome | Chromosomes, Human, Pair 18 - genetics | Chromosome Disorders - genetics | Pregnancy Outcome | Yuan (China) | Medical examination | Multiprocessing | Pregnant women | Genomics | Chromosomes | Blood | Index Medicus
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5. Full Text DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
by Palomaki, Glenn E and Deciu, Cosmin and Kloza, Edward M and Lambert-Messerlian, Geralyn M and Haddow, James E and Neveux, Louis M and Ehrich, Mathias and Van Den Boom, Dirk and Bombard, Allan T and Grody, Wayne W and Nelson, Stanley F and Canick, Jacob A
Genetics in Medicine, ISSN 1098-3600, 03/2012, Volume 14, Issue 3, pp. 296 - 305
Purpose: To determine whether maternal plasma cell free DNA sequencing can effectively identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy... 
fetal DNA | massively parallel shotgun sequencing | trisomy 13 | clinical validation | false-positive rate | detection rate | prenatal screening | trisomy 18 | 1ST-TRIMESTER | MARKERS | RISK | SERUM | HUMAN CHORIONIC-GONADOTROPIN | UNCONJUGATED ESTRIOL | ANEUPLOIDY | WOMEN | NONINVASIVE PRENATAL-DIAGNOSIS | GENETICS & HEREDITY | ALPHA-FETOPROTEIN | Reproducibility of Results | United States | Humans | Middle Aged | Prenatal Diagnosis | Sequence Analysis, DNA | Case-Control Studies | DNA - blood | Pregnancy | Young Adult | Trisomy - diagnosis | Chromosomes, Human, Pair 18 | Sensitivity and Specificity | Chromosomes, Human, Pair 13 | Adult | Female | Down Syndrome - diagnosis | Trisomy | Down's syndrome | Risk groups | Fetuses | Aneuploidy | Patau's syndrome | chromosome 18 | DNA sequencing | Index Medicus | Original
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6. Full Text Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
by Chen, E.Z and Chiu, R.W and Sun, H and Akolekar, R and Chan, K.C and Leung, T.Y and Jiang, P and Zheng, Y.W and Lun, F.M and Chan, L.Y and Jin, Y and Go, A.T and Lau, E.T and To, W.W and Leung, W.C and Tang, R.Y and Au-Yeung, S.K and Lam, H and Kung, Y.Y and Zhang, X and Vugt, J.M.G. van and Minekawa, R and Tang, M.H and Wang, J and Oudejans, C.B and Lau, T.K and Nicolaides, K.H and Lo, Y.M
Plos One, ISSN 1932-6203, 2011, Volume 6, Issue 7, pp. e21791 - e21791
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal... 
AMNIOCENTESIS | WOMEN | 1ST-TRIMESTER | CHROMOSOMAL ANEUPLOIDY | BIOLOGY | BLOOD | Chromosomes, Human, Pair 13 - genetics | Humans | Fetus - pathology | Sequence Analysis, DNA | Genome, Human - genetics | DNA - blood | Pregnancy | Trisomy - diagnosis | Trisomy - genetics | Female | Base Composition - genetics | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Multiprocessing | Pregnant women | Analysis | Genomics | DNA | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Trisomy | Fetuses | Nausea | Medical diagnosis | Gene sequencing | Prenatal diagnosis | Instructional design | DNA methylation | Rapid prototyping | Patau's syndrome | Diagnosis | Bioinformatics | Deoxyribonucleic acid--DNA | Index Medicus | Deoxyribonucleic acid
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7. Full Text Screening for trisomies 21, 18 and 13 by cell‐free DNA analysis of maternal blood at 10–11 weeks' gestation and the combined test at 11–13 weeks
by Quezada, M. S and Gil, M. M and Francisco, C and Oròsz, G and Nicolaides, K. H
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 01/2015, Volume 45, Issue 1, pp. 36 - 41
This article has been selected for Journal Club. Click here to view slides and discussion points. 
cell‐free | screening | trisomies | first trimester | DNA | combined test | prenatal diagnosis | fetal fraction | Screening | Prenatal diagnosis | Trisomies | Fetal fraction | Cell-free DNA | Combined test | First trimester | ACOUSTICS | FETAL ANEUPLOIDIES | cell-free DNA | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | OBSTETRICS & GYNECOLOGY | Chromosomes, Human, Pair 18 - metabolism | Decision Making | Chromosomes, Human, Pair 21 - metabolism | Humans | Prenatal Diagnosis | Chromosomes, Human, Pair 13 - metabolism | Maternal Serum Screening Tests | Genetic Counseling | Pregnancy Trimester, First | Pregnancy | Trisomy - diagnosis | Cell-Free System | Sensitivity and Specificity | Adult | Female | Pregnant women | Chromosomes | Analysis | Miscarriage | Premature birth | Deoxyribonucleic acid--DNA | Index Medicus
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8. Full Text Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18
by Ashoor, Ghalia, MD|Syngelaki, Argyro, RM|Wagner, Marion, MD|Birdir, Cahit, MD|Nicolaides, Kypros H., MD
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2012, Volume 206, Issue 4, pp. 322.e1 - 322.e5
Objective The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18 and the false-positive rate by chromosome-selective... 
Obstetrics and Gynecology | first trimester | trisomy 21 | trisomy 18 | MULTICENTER | ABNORMALITIES | RISK | FETAL NUCHAL-TRANSLUCENCY | MODEL | OBSTETRICS & GYNECOLOGY | ANEUPLOIDY | IMPACT | NONINVASIVE PRENATAL-DIAGNOSIS | THICKNESS | AGE | Humans | Risk | False Positive Reactions | Pregnancy Trimester, First | Case-Control Studies | DNA - blood | Pregnancy | Trisomy - diagnosis | DNA Mutational Analysis | Sensitivity and Specificity | Down Syndrome - blood | Adult | Female | Down Syndrome - diagnosis | Chromosomes, Human, Pair 18 - genetics | Genetic research | Pregnant women | DNA | Index Medicus | Abridged Index Medicus
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9. Full Text Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
by Porreco, Richard P., MD|Garite, Thomas J., MD|Maurel, Kimberly, MSN, CNS|Marusiak, Barbara, MS, CRM|Ehrich, Mathias, MD|van den Boom, Dirk, PhD|Deciu, Cosmin, MS|Bombard, Allan, MD and Obstetrix Collaborative Research N and Obstetrix Collaborative Research Network
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2014, Volume 211, Issue 4, pp. 365.e1 - 365.e12
Objective The objective of this study was to validate the clinical performance of massively parallel genomic sequencing of cell-free deoxyribonucleic acid... 
Obstetrics and Gynecology | massively parallel genomic sequencing | cell-free deoxyribonucleic acid | noninvasive prenatal screening | DIAGNOSIS | PLASMA | FETUS | CELL-FREE DNA | OBSTETRICS & GYNECOLOGY | Predictive Value of Tests | Prospective Studies | Genomics | Humans | Maternal Serum Screening Tests | Sex Chromosome Disorders - diagnosis | Chromosomes, Human, X | Pregnancy | Chromosomes, Human, Y | Trisomy - diagnosis | Sex Chromosome Aberrations | Chromosomes, Human, Pair 18 | Trisomy 18 Syndrome | Chromosome Disorders - diagnosis | Chromosomes, Human, Pair 13 | Adult | Female | Trisomy 13 Syndrome | High-Throughput Nucleotide Sequencing | Down Syndrome - diagnosis | Sequence Analysis, DNA - methods | Multiprocessing | Pregnant women | DNA | Index Medicus | Abridged Index Medicus
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10. Full Text Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
by Sparks, Andrew B., PhD|Struble, Craig A., PhD|Wang, Eric T., PhD|Song, Ken, MD|Oliphant, Arnold, PhD
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2012, Volume 206, Issue 4, pp. 319.e1 - 319.e9
Objective We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18)... 
Obstetrics and Gynecology | aneuploidy detection | noninvasive prenatal diagnostics | Down syndrome | trisomy | DIAGNOSIS | 1ST-TRIMESTER | DEFECTS | DOWNS-SYNDROME | FETAL CELLS | OBSTETRICS & GYNECOLOGY | PLASMA | CHROMOSOMAL-ABNORMALITIES | NUCHAL TRANSLUCENCY | Pregnancy Trimester, First - blood | Humans | Male | Risk | Case-Control Studies | DNA - blood | DNA - genetics | Pregnancy | Trisomy - diagnosis | Sensitivity and Specificity | Adult | Female | Fetus | Down Syndrome - diagnosis | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis - methods | Genetic research | Algorithms | Pregnant women | DNA | Index Medicus | Abridged Index Medicus
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11. Full Text Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hCG and pregnancy-associated plasma protein-A
by Kagan, Karl O and Wright, Dave and Valencia, Catalina and Maiz, Nerea and Nicolaides, Kypros H
Human Reproduction, ISSN 0268-1161, 9/2008, Volume 23, Issue 9, pp. 1968 - 1975
BACKGROUND A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of... 
Nuchal translucency | First trimester | Trisomy | Serum-free β-hCG | Pregnancy-associated plasma protein-A | MORTALITY | MULTICENTER | DEFECTS | serum-free beta-hCG | RISK | trisomy | pregnancy-associated plasma protein-A | HUMAN CHORIONIC-GONADOTROPIN | OBSTETRICS & GYNECOLOGY | IMPACT | REPRODUCTIVE BIOLOGY | nuchal translucency | first trimester | GESTATION | PAPP-A | CHROMOSOMALLY ABNORMAL FETUSES | THICKNESS | Heart Rate, Fetal | Pregnancy-Associated Plasma Protein-A - analysis | Prospective Studies | Risk Assessment | Humans | Middle Aged | Chorionic Gonadotropin, beta Subunit, Human - blood | Pregnancy | Trisomy - diagnosis | Algorithms | Maternal Age | Chromosomes, Human, Pair 18 | Nuchal Translucency Measurement | Sensitivity and Specificity | Chromosomes, Human, Pair 13 | Adult | Female | Cytogenetic Analysis | Chromosomes, Human, Pair 21 | Index Medicus
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