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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 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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3. 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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4. 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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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
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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6. 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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7. 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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8. Full Text Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
by Gil, M. M and Quezada, M. S and Revello, R and Akolekar, R and Nicolaides, K. H
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 03/2015, Volume 45, Issue 3, pp. 249 - 266
fetal aneuploidy | trisomy 13 | trisomy 21 | non‐invasive prenatal testing | Turner syndrome | cell‐free fetal DNA | trisomy 18 | Non-invasive prenatal testing | Trisomy 21 | Trisomy 13 | Cell-free fetal DNA | Fetal aneuploidy | Trisomy 18 | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Chromosomes, Human, Pair 13 - genetics | Predictive Value of Tests | Humans | Prenatal Diagnosis | Maternal Serum Screening Tests - methods | Sequence Analysis, DNA | Chromosomes, Human, X | Pregnancy | Chromosomes, Human, Y | Trisomy - diagnosis | Trisomy - genetics | Cell-Free System | Sex Chromosome Aberrations | Karyotyping | Down Syndrome - genetics | Trisomy 18 Syndrome | Chromosome Disorders - diagnosis | Female | Trisomy 13 Syndrome | Down Syndrome - diagnosis | Chromosomes, Human, Pair 18 - genetics | Chromosome Disorders - genetics | Pregnant women | Chromosomes | Analysis | DNA | Index Medicus
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9. Full Text Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation
by Kagan, K. O and Cicero, S and Staboulidou, I and Wright, D and Nicolaides, K. H
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 03/2009, Volume 33, Issue 3, pp. 259 - 264
free β‐hCG | PAPP‐A | nuchal translucency | nasal bone | trisomy 21 | first‐trimester screening | Trisomy 21 | Nuchal translucency | PAPP-A | First-trimester screening | Free β-hcg | Nasal bone | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance | Chromosome aberrations | Medical genetics | Pregnancy Trimester, First - blood | Pregnancy-Associated Plasma Protein-A - genetics | Prospective Studies | Humans | Middle Aged | Chorionic Gonadotropin, beta Subunit, Human - blood | Young Adult | Maternal Age | Heart Rate, Fetal - genetics | Adult | Female | Down Syndrome - diagnosis | Chromosomes, Human, 16-18 - genetics | Pregnancy-Associated Plasma Protein-A - analysis | Risk Assessment | Nasal Bone - diagnostic imaging | Chorionic Gonadotropin, beta Subunit, Human - genetics | Nasal Bone - abnormalities | Pregnancy | Trisomy - diagnosis | Algorithms | Trisomy - genetics | Pregnancy Trimester, First - genetics | Ultrasonography, Prenatal | Nuchal Translucency Measurement | Adolescent | Turner Syndrome - genetics | Chromosomes, Human, 13-15 - genetics | Index Medicus
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