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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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article