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1. Full Text Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
by Petersen, Andrea K and Cheung, Sau Wai and Smith, Janice L and Bi, Weimin and Ward, Patricia A and Peacock, Sandra and Braxton, Alicia and Van Den Veyver, Ignatia B and Breman, Amy M
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis | Index Medicus | Abridged Index Medicus
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2. Full Text The trisomy 18 syndrome
by Cereda, Anna and Carey, John C
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 81 - 81
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Diagnosis, Differential | Trisomy | Prognosis | Chromosomes, Human, Pair 18 | Humans | Female | Male | Genetic Counseling | Syndrome | Pregnancy | Genetic disorders | Pregnant women | Patient outcomes | Infants | Congenital heart disease | Diagnosis | Health aspects | Index Medicus
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3. 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
false negative | clinical performance | low‐risk population | cell‐free DNA | mosaicism | CNV | NIPT | trisomy | false positive | cell-free DNA | low-risk population | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | 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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4. Common Genetic and Epigenetic Syndromes
by Adams, Darius J and Clark, David A
The Pediatric clinics of North America, ISSN 0031-3955, 2015, Volume 62, Issue 2, pp. 411 - 426
Genetic | Microdeletion | Epigenetic | Imprinting | Syndrome | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Williams Syndrome - genetics | Epigenesis, Genetic | Humans | Angelman Syndrome - diagnosis | Beckwith-Wiedemann Syndrome - diagnosis | Turner Syndrome - diagnosis | Genetic Counseling | WAGR Syndrome - diagnosis | Beckwith-Wiedemann Syndrome - genetics | Klinefelter Syndrome - genetics | Smith-Magenis Syndrome - genetics | Alagille Syndrome - genetics | DNA Methylation | Angelman Syndrome - genetics | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Down Syndrome - diagnosis | DiGeorge Syndrome - genetics | WAGR Syndrome - genetics | Chromosome Deletion | Prader-Willi Syndrome - diagnosis | Classical Lissencephalies and Subcortical Band Heterotopias - genetics | Classical Lissencephalies and Subcortical Band Heterotopias - diagnosis | Smith-Magenis Syndrome - diagnosis | Trisomy - diagnosis | Williams Syndrome - diagnosis | DiGeorge Syndrome - diagnosis | Alagille Syndrome - diagnosis | Chromosomes, Human, Pair 18 | Trisomy 18 Syndrome | Chromosomes, Human, Pair 13 | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Trisomy 13 Syndrome | Chromosome Disorders - genetics
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5. Full Text Radial Ray Malformation
by Gandhi, Manisha and Rac, Martha W.F and McKinney, Jennifer and Society for Maternal-Fetal Medicine (SMFM) and Soc Maternal-Fetal Med SMFM
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
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6. 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
fetal DNA | massively parallel shotgun sequencing | trisomy 13 | clinical validation | false-positive rate | detection rate | prenatal screening | trisomy 18 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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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7. Full Text Prenatal reflex DNA screening for trisomies 21, 18, and 13
by Wald, Nicholas J and Huttly, Wayne J and Bestwick, Jonathan P and Old, Robert and Morris, Joan K and Cheng, Ray and Aquilina, Joe and Peregrine, Elisabeth and Roberts, Devender and Alfirevic, Zarko
Genetics in medicine, ISSN 1098-3600, 08/2018, Volume 20, Issue 8, pp. 825 - 830
Down syndrome | NIPT | reflex DNA screening | trisomy 13, 18, 21 | prenatal screening | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Trisomy 13 Syndrome - genetics | Pregnancy Trimester, First - blood | Humans | Pregnancy-Associated Plasma Protein-A | Trisomy 18 Syndrome - diagnosis | DNA - blood | Pregnancy | Trisomy - diagnosis | Maternal Age | Trisomy - genetics | Diagnostic Tests, Routine - methods | Nuchal Translucency Measurement | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Adult | Female | Trisomy 13 Syndrome - diagnosis | Chorionic Gonadotropin, beta Subunit, Human | Down Syndrome - diagnosis | Prenatal Diagnosis - methods | Sequence Analysis, DNA - methods | Diagnostic tests | Deoxyribonucleic acid--DNA | Index Medicus
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8. Full Text TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
by van der Meij, Karuna R.M and Sistermans, Erik A and Macville, Merryn V.E and Stevens, Servi J.C and Bax, Caroline J and Bekker, Mireille N and Bilardo, Caterina M and Boon, Elles M.J and Boter, Marjan and Diderich, Karin E.M and de Die-Smulders, Christine E.M and Duin, Leonie K and Faas, Brigitte H.W and Feenstra, Ilse and Haak, Monique C and Hoffer, Mariëtte J.V and den Hollander, Nicolette S and Hollink, Iris H.I.M and Jehee, Fernanda S and Knapen, Maarten F.C.M and Kooper, Angelique J.A and van Langen, Irene M and Lichtenbelt, Klaske D and Linskens, Ingeborg H and van Maarle, Merel C and Oepkes, Dick and Pieters, Mijntje J and Schuring-Blom, G. Heleen and Sikkel, Esther and Sikkema-Raddatz, Birgit and Smeets, Dominique F.C.M and Srebniak, Malgorzata I and Suijkerbuijk, Ron F and Tan-Sindhunata, Gita M and van der Ven, A. Jeanine E.M and van Zelderen-Bhola, Shama L and Henneman, Lidewij and Galjaard, Robert-Jan H and Van Opstal, Diane and Weiss, Marjan M and The Dutch NIPT Consortium and Dutch NIPT Consortium
American journal of human genetics, ISSN 0002-9297, 12/2019, Volume 105, Issue 6, pp. 1091 - 1101
rare autosomal trisomies | genome-wide | cfDNA | NIPS | NIPT | prenatal screening | common trisomies | fetal trisomy | first tier test | implementation study | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Follow-Up Studies | Humans | Middle Aged | Netherlands - epidemiology | Genetic Testing - methods | Pregnancy Trimester, First | Trisomy 13 Syndrome - epidemiology | Trisomy 18 Syndrome - diagnosis | Young Adult | Adult | Female | Trisomy 18 Syndrome - epidemiology | Down Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Health Plan Implementation | Down Syndrome - epidemiology | Pregnancy | Trisomy 18 Syndrome - genetics | Adolescent | Chromosome Aberrations | Down Syndrome - genetics | Trisomy 13 Syndrome - diagnosis | Genome, Human | Prenatal Diagnosis - methods | Genome-wide association studies | Methods | Prenatal diagnosis | Index Medicus
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9. Using patient-centered care after a prenatal diagnosis of Trisomy 18 or Trisomy 13 a review
by Haug, Shelly and Goldstein, Mitchell and Cummins, Denise and Fayard, Elba and Merritt, T. Allen
JAMA pediatrics, ISSN 2168-6203, 04/2017, Volume 171, Issue 4, pp. 382 - 387
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Humans | Infant | Pregnancy | Trisomy - diagnosis | Patient-Centered Care - methods | Chromosomes, Human, Pair 18 | Trisomy 18 Syndrome | Chromosome Disorders - diagnosis | Chromosomes, Human, Pair 13 | Quality of Life | Female | Trisomy 13 Syndrome | Prenatal Diagnosis - methods | Infant, Newborn
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10. 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 and Brar, Herb, MD and Weiss, Jonathan, MD and Karimi, Ardeshir, MD and Laurent, Louise C., MD, PhD and Caughey, Aaron B., MD, PhD and Rodriguez, M. Hellen, MD and Williams, John, MD and Mitchell, Michael E., MD and Adair, Charles D., MD and Lee, Hanmin, MD and Jacobsson, Bo, MD and Tomlinson, Mark W., MD and Oepkes, Dick, MD, PhD and Hollemon, Desiree, MSN, MPH and Sparks, Andrew B., PhD and Oliphant, Arnold, PhD and Song, Ken, MD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2012, Volume 207, Issue 2, pp. 137.e1 - 137.e8
Obstetrics and Gynecology | aneuploidy detection | noninvasive prenatal diagnosis | Down syndrome | trisomy | cell-free fetal DNA | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Chromosome aberrations | Medical genetics | 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 | DNA | Analysis | Index Medicus | Abridged Index Medicus
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