Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (4287) 4287
Book Review (491) 491
Publication (203) 203
Book Chapter (28) 28
Book / eBook (16) 16
Magazine Article (6) 6
Reference (4) 4
Conference Proceeding (3) 3
Newsletter (2) 2
Dissertation (1) 1
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (3614) 3614
index medicus (3612) 3612
female (2944) 2944
trisomy (2109) 2109
pregnancy (1970) 1970
genetics & heredity (1516) 1516
adult (1512) 1512
male (1335) 1335
obstetrics & gynecology (1201) 1201
prenatal diagnosis (961) 961
karyotyping (831) 831
trisomy 21 (768) 768
aneuploidy (765) 765
down syndrome (742) 742
down syndrome - diagnosis (735) 735
trisomy - diagnosis (704) 704
chromosomes, human, pair 18 (698) 698
trisomy - genetics (641) 641
infant, newborn (598) 598
diagnosis (576) 576
mosaicism (513) 513
middle aged (498) 498
in situ hybridization, fluorescence (481) 481
prenatal diagnosis - methods (481) 481
chromosome aberrations (463) 463
adolescent (462) 462
chromosomes (461) 461
maternal age (453) 453
infant (452) 452
fetuses (436) 436
child (429) 429
ultrasonography, prenatal (425) 425
down-syndrome (418) 418
phenotype (418) 418
down syndrome - genetics (404) 404
gestational age (399) 399
amniocentesis (392) 392
child, preschool (382) 382
pregnant women (377) 377
trisomy 18 (376) 376
pediatrics (375) 375
retrospective studies (366) 366
analysis (356) 356
abridged index medicus (352) 352
abnormalities, multiple - genetics (350) 350
prenatal-diagnosis (337) 337
chromosomes, human, pair 13 (335) 335
risk (322) 322
abnormalities (317) 317
pregnancy trimester, first (308) 308
ultrasound (293) 293
risk factors (285) 285
children (272) 272
oncology (272) 272
chromosome disorders - diagnosis (262) 262
young adult (254) 254
trisomy 18 syndrome (253) 253
age (248) 248
trisomy-21 (247) 247
radiology, nuclear medicine & medical imaging (242) 242
chromosome disorders (241) 241
cytogenetics (241) 241
translocation, genetic (241) 241
chromosomes, human, pair 18 - genetics (237) 237
nuchal translucency (236) 236
fetus (233) 233
acoustics (230) 230
dna (230) 230
research (230) 230
genetics (224) 224
chromosome deletion (215) 215
pregnancy trimester, second (213) 213
aged (211) 211
trisomy 13 syndrome (209) 209
sensitivity and specificity (207) 207
down's syndrome (201) 201
syndrome (201) 201
down syndrome - diagnostic imaging (199) 199
trisomy 13 (197) 197
downs-syndrome (191) 191
deoxyribonucleic acid--dna (189) 189
chromosome disorders - genetics (184) 184
genetic counseling (182) 182
genetic disorders (180) 180
comparative genomic hybridization (177) 177
prospective studies (176) 176
infants (173) 173
cell-free dna (172) 172
chromosome banding (172) 172
translocation (172) 172
genetic aspects (170) 170
gestation (169) 169
medicine & public health (162) 162
hematology (161) 161
genes (160) 160
prognosis (159) 159
nuchal translucency measurement (156) 156
survival (155) 155
prenatal screening (154) 154
chorionic gonadotropin, beta subunit, human - blood (153) 153
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (13) 13
Collection Dvlpm't (Acquisitions) - Closed Orders (2) 2
Robarts - Stacks (2) 2
Baycrest Hospital - Stacks (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
OISE - Stacks (1) 1
Providence Healthcare - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (4187) 4187
German (38) 38
French (28) 28
Chinese (25) 25
Spanish (15) 15
Polish (10) 10
Japanese (6) 6
Bulgarian (5) 5
Russian (5) 5
Italian (4) 4
Korean (4) 4
Hebrew (3) 3
Hungarian (3) 3
Portuguese (3) 3
Romanian (3) 3
Turkish (3) 3
Czech (2) 2
Dutch (1) 1
Slovenian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data... 
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 | CHROMOSOMAL MICROARRAY | TRISOMIES 21 | FREE DNA | RISK | CLINICAL-EXPERIENCE | OBSTETRICS & GYNECOLOGY | FETAL ANEUPLOIDIES | 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
Details down arrow
Digital rights down arrow
loading Loading Rights
2. 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
Purpose: The purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as... 
Down syndrome | NIPT | reflex DNA screening | trisomy 13, 18, 21 | prenatal screening | DOWN-SYNDROME | GENETICS & HEREDITY | ANEUPLOIDIES | CELL-FREE DNA | 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
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Prenatal diagnosis of trisomy 18 rescue resulting in mosaic of two different diploid cell lines in a hydropic fetus
by Deng, Qiong and Li, Fa-tao and Li, Ru and Fu, Fang and Jing, Xiang-yi and Liao, Can
European Journal of Obstetrics and Gynecology, ISSN 0301-2115, 05/2018, Volume 224, pp. 209 - 211
Hydrops Fetalis - genetics | Humans | Prenatal Diagnosis | Trisomy 18 Syndrome - genetics | Adult | Female | Mosaicism | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Cell‐free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy
by Le Conte, G and Letourneau, A and Jani, J and Kleinfinger, P and Lohmann, L and Costa, J.‐M and Benachi, A
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 09/2018, Volume 52, Issue 3, pp. 318 - 324
To evaluate in twin pregnancy the utility of non-invasive prenatal testing using circulating cell-free fetal DNA (cfDNA) in screening for the three main... 
cell‐free DNA | non‐invasive prenatal testing | twin pregnancy | non-invasive prenatal testing | cell-free DNA | Multivariate Analysis | Predictive Value of Tests | Prospective Studies | Humans | Middle Aged | Gestational Age | Trisomy 18 Syndrome - diagnosis | Karyotyping - methods | Pregnancy | Trisomy 18 Syndrome - blood | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Down Syndrome - blood | Adult | Female | Trisomy 13 Syndrome - diagnosis | Retrospective Studies | Down Syndrome - diagnosis | Pregnancy, Twin - blood | Multiprocessing | Pregnant women | Analysis | DNA | Medical tests | Medical screening | Trisomy | Test procedures | Fetuses | Regression analysis | Patients | Genetic screening | Weight | Screening | Reproduction | Ultrasonic imaging | Failure analysis | Reproductive technologies | Twins | Ultrasound | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics
by Catic, Aida and Gurbeta, Lejla and Kurtovic-Kozaric, Amina and Mehmedbasic, Senad and Badnjevic, Almir
BMC Medical Genomics, ISSN 1755-8794, 02/2018, Volume 11, Issue 1, pp. 19 - 19
Background: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been... 
Feedback neural network | Trisomy | Prenatal diagnosis | Artificial neural networks | Fetal aneuploidy | Combined test | Feedforward neural network | GUIDELINES | CHROMOSOMES | ANEUPLOIDY | COMMON EUROPEAN FRAMEWORK | GENETICS & HEREDITY | SYSTEMS | PRENATAL-DIAGNOSIS | Pregnancy Trimester, First - blood | Demography | Humans | Middle Aged | Male | Turner Syndrome - diagnosis | Mothers | Trisomy 18 Syndrome - diagnosis | Young Adult | Down Syndrome - diagnostic imaging | Ultrasonography | Adult | Female | Down Syndrome - diagnosis | Neural Networks (Computer) | Computational Biology - methods | Trisomy 13 Syndrome - diagnostic imaging | Prenatal Diagnosis | Trisomy 18 Syndrome - diagnostic imaging | Klinefelter Syndrome - diagnostic imaging | Pregnancy | Turner Syndrome - diagnostic imaging | Adolescent | Klinefelter Syndrome - diagnosis | Trisomy 13 Syndrome - diagnosis | Usage | Chromosome abnormalities | Neural networks | Research | Diagnosis | Mental retardation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Massively Parallel Sequencing (MPS) of Cell-Free Fetal DNA (cffDNA) for Trisomies 21, 18, and 13 in twin pregnancies
by Du, Erqiu and Feng, Chun and Cao, Yuming and Yao, Yanru and Lu, Jing and Zhang, Yuanzhen
Twin Research and Human Genetics, ISSN 1832-4274, 06/2017, Volume 20, Issue 3, pp. 242 - 249
Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton... 
twin pregnancies | trisomy | prenatal screening | massively parallel sequencing | DISCORDANT | RISK-FACTORS | MATERNAL PLASMA DNA | NUCHAL TRANSLUCENCY THICKNESS | MONOZYGOTIC TWINS | OBSTETRICS & GYNECOLOGY | DOWN-SYNDROME | GENETICS & HEREDITY | CONFINED PLACENTAL MOSAICISM | ANEUPLOIDIES | ZYGOSITY | BLOOD | Diseases in Twins - genetics | Humans | Cell-Free Nucleic Acids - genetics | Trisomy 18 Syndrome - diagnosis | Trisomy 18 Syndrome - pathology | Trisomy 13 Syndrome - pathology | Karyotyping | Adult | Female | Fetus | Down Syndrome - diagnosis | Pregnancy, Twin - genetics | Infant, Newborn | Amniocentesis | Down Syndrome - pathology | Trisomy 13 Syndrome - genetics | Diseases in Twins - diagnosis | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Pregnancy | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Trisomy 13 Syndrome - diagnosis | High-Throughput Nucleotide Sequencing | Diseases in Twins - pathology | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice
by Salomon, L. J and Alfirevic, Z and Audibert, F and Kagan, K. O and Paladini, D and Yeo, G and Raine‐Fenning, N and ISUGO Cinical Stand Commitee and ISUOG Clinical Standards Committee
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 06/2017, Volume 49, Issue 6, pp. 815 - 816
ACOUSTICS | RISK | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | OBSTETRICS & GYNECOLOGY | Predictive Value of Tests | Trisomy 13 Syndrome - genetics | Risk Assessment | Humans | Aneuploidy | Biomarkers - blood | Maternal Serum Screening Tests | Pregnancy Trimester, First | Consensus | Trisomy 18 Syndrome - diagnosis | DNA - blood | Pregnancy | Societies, Medical | Ultrasonography, Prenatal | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Female | Trisomy 13 Syndrome - diagnosis | Down Syndrome - diagnosis | Pregnant women | Medical tests | Screening | Policies | Medical screening | Ultrasound | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Routine first‐trimester screening for fetal trisomies in twin pregnancy: cell‐free DNA test contingent on results from combined test
by Galeva, S and Konstantinidou, L and Gil, M. M and Akolekar, R and Nicolaides, K. H
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 02/2019, Volume 53, Issue 2, pp. 208 - 213
This article's abstract has been translated into Spanish and Chinese. Follow the links from the abstract to view the translations. 
trisomy 13 | trisomy 21 | cell‐free DNA | non‐invasive prenatal testing | twin pregnancy | combined test | trisomy 18 | first‐trimester screening | non-invasive prenatal testing | cell-free DNA | first-trimester screening | MATERNAL BLOOD | TRISOMY-21 | OBSTETRICS & GYNECOLOGY | ACOUSTICS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | ANEUPLOIDIES | Predictive Value of Tests | Trisomy 13 Syndrome - genetics | Pregnancy Trimester, First - blood | Prospective Studies | Risk Assessment | Humans | Mass Screening - methods | Trisomy 18 Syndrome - diagnosis | Pregnancy | Trisomy 18 Syndrome - blood | Maternal Age | Trisomy 13 Syndrome - blood | Crown-Rump Length | Cell-Free Nucleic Acids - blood | Maternal Serum Screening Tests - statistics & numerical data | Nuchal Translucency Measurement | Trisomy 18 Syndrome - genetics | Down Syndrome - blood | Down Syndrome - genetics | Adult | Female | Trisomy 13 Syndrome - diagnosis | Down Syndrome - diagnosis | Pregnancy, Twin - statistics & numerical data | Chorionic gonadotropin | Pregnant women | Analysis | DNA | Glycoproteins | Chromosomes | Blood proteins | Neonates | Trisomy | Test procedures | Fetuses | Feasibility studies | Pituitary (anterior) | Gonadotropins | Risk | Gestation | Medical screening | Proteins | Screening | Twins | Miscarriage | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Contingent first‐trimester screening for aneuploidies with cell‐free DNA in a Danish clinical setting
by Miltoft, C. B and Rode, L and Ekelund, C. K and Sundberg, K and Kjærgaard, S and Zingenberg, H and Tabor, A
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 04/2018, Volume 51, Issue 4, pp. 470 - 479
Objectives The primary aim of this study was to compare the screening performance for trisomy 21 (T21) between combined first-trimester screening (cFTS) with... 
screening | nuchal translucency | trisomy 21 | cell‐free DNA | first‐trimester risk assessment | prenatal screening | first‐trimester screening | cell-free DNA | first-trimester screening | first-trimester risk assessment | FETAL FRACTION | METAANALYSIS | RISK | TRISOMY-21 | OBSTETRICS & GYNECOLOGY | ACOUSTICS | MATERNAL PLASMA | GESTATION | COHORT | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | BLOOD | AGE | Predictive Value of Tests | Humans | Nuchal Translucency Measurement - statistics & numerical data | Pregnancy Trimester, First | Pregnancy Outcome - epidemiology | Trisomy 18 Syndrome - diagnosis | Maternal Age | Down Syndrome - blood | Adult | Female | Down Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Risk Assessment | Down Syndrome - epidemiology | Pregnancy | Trisomy 18 Syndrome - blood | Trisomy 13 Syndrome - blood | Analysis of Variance | Cell-Free Nucleic Acids - blood | Maternal Serum Screening Tests - statistics & numerical data | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Denmark - epidemiology | Trisomy 13 Syndrome - diagnosis | Cohort Studies | Chorionic gonadotropin | Pregnant women | DNA | Glycoproteins | Chromosomes | Blood proteins | Trisomy | Congenital diseases | Fetuses | Sex | Karyotypes | Aneuploidy | Pituitary (anterior) | Gonadotropins | Protein A | Medical screening | Blood | Prenatal care | Screening | Sensitivity | Risk assessment | Strategy | Patau's syndrome | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Trisomy 18: palliative surgical intervention
by Spierson, Hannah and Masood, Yasser and Craigie, Ross J and Edi-Osagie, Ngozi
Archives of Disease in Childhood, ISSN 0003-9888, 10/2018, Volume 103, Issue 10, pp. 1001 - 1001
Correspondence to Dr Hannah Spierson, Newborn Intensive Care Unit, Manchester University NHS Foundation Trust, Manchester M23 9LT, UK; hannahspierson@gmail.com... 
paediatric surgery | neonatology | congenital abnorm | palliative care | PEDIATRICS | Prognosis | Humans | Male | Surgical Procedures, Operative - statistics & numerical data | United Kingdom | Trisomy 18 Syndrome - therapy | Trisomy 18 Syndrome - diagnosis | Patient Selection | Clinical Decision-Making | Female | Retrospective Studies | Surgical Procedures, Operative - methods | Infant, Newborn | Palliative Care - methods | Pregnancy | Babies | Amniocentesis | Trisomy | Intensive care | Surgery | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Trisomy 18 and eye anomalies
by Correia, Jamile D and da Rosa, Ernani B and Silveira, Daniélle B and Correia, Elisa P. E and Lorenzen, Marina B and Travi, Giovanni M and Rosa, Rosana C. M and Zen, Paulo R. G and Zen, Tatiana D and Rosa, Rafael F. M
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 553 - 555
SURVIVAL | CORNEAL OPACITIES | EDWARDS SYNDROME | ANOPHTHALMIA | MEMBRANE | GENETICS & HEREDITY | MICROPHTHALMIA | BRAZIL | Eye Abnormalities - diagnosis | Cataract - diagnosis | Humans | Cataract - pathology | Male | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Trisomy 18 Syndrome - pathology | Cataract - complications | Corneal Opacity - pathology | Eye Abnormalities - pathology | Corneal Opacity - diagnosis | Female | Corneal Opacity - complications | Infant, Newborn | Eye Abnormalities - complications | Trisomy | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Payer decision making for next-generation sequencing-based genetic tests: Insights from cell-free DNA prenatal screening
by Dervan, Andrew P and Deverka, Patricia A and Trosman, Julia R and Weldon, Christine B and Douglas, Michael P and Phillips, Kathryn A
Genetics in Medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 559 - 567
Purpose: Cell-free DNA (cfDNA) prenatal screening tests have been rapidly adopted into clinical practice, due in part to positive insurance coverage. We... 
cell-free DNA | next-generation sequencing | noninvasive prenatal testing | clinical utility | insurance coverage | ANEUPLOIDY | POSITION | COVERAGE | GENETICS & HEREDITY | IMPLEMENTATION | POLICIES | SOCIETY | Decision Making | Trisomy 13 Syndrome - genetics | Genetic Testing | Humans | Cell-Free Nucleic Acids - genetics | Trisomy 18 Syndrome - diagnosis | Insurance Coverage | Pregnancy | Trisomy - diagnosis | Trisomy - genetics | Clinical Decision-Making | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Female | Registries | Trisomy 13 Syndrome - diagnosis | Down Syndrome - diagnosis | High-Throughput Nucleotide Sequencing - methods | Prenatal Diagnosis - methods | Sequence Analysis, DNA - methods | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing
by Wang, Jing and Wang, Li and Wang, He and Chen, Lin and Zhou, Cong and Xie, Hanbing and Xiao, Yuanyuan and Zhu, Qian and Zhu, Hongmei and Hu, Ting and Zhang, Zhu and Liu, Zhiying and Liu, Hongqian and Liu, Shanlin and Xu, Mengnan and Ren, Zhilin and Yu, Fuli and Cram, David S
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 09/2018, Volume 219, Issue 3, pp. 287.e1 - 287.e18
Next-generation sequencing is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One... 
amniocentesis | copy number variation sequencing | variants of uncertain significance | microduplications | aneuploidy | chromosome anomalies | microdeletions | invasive prenatal diagnosis | HUMAN CYTOGENETICS | CLINICAL DIAGNOSTIC-TEST | ABNORMALITIES | RISK | MICROARRAY ANALYSIS | OBSTETRICS & GYNECOLOGY | DISEASES | KARYOTYPE | PRENATAL-DIAGNOSIS | Amniocentesis | Prospective Studies | Humans | Prenatal Diagnosis | Aneuploidy | In Situ Hybridization, Fluorescence | DNA Copy Number Variations - genetics | Sequence Analysis, DNA | Trisomy 18 Syndrome - diagnosis | Pregnancy | Sex Chromosome Aberrations | Microarray Analysis | China | Karyotyping | Chromosome Aberrations | Chromosome Disorders - diagnosis | Adult | Female | Trisomy 13 Syndrome - diagnosis | High-Throughput Nucleotide Sequencing | Down Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Pregnant women | Analysis | Genomics | Genetic research | Cytogenetics | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text The value of non-invasive prenatal testing: Preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access
by Birko, Stanislav and Ravitsky, Vardit and Dupras, Charles and Le Clerc-Blain, Jessica and Lemoine, Marie-Eve and Affdal, Aliya O and Haidar, Hazar and Laberge, Anne-Marie
BMC Pregnancy and Childbirth, ISSN 1471-2393, 01/2019, Volume 19, Issue 1, pp. 22 - 22
BackgroundCanadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT... 
Non-invasive prenatal testing | Equal access | Testing pathway | Prenatal screening | Insurance coverage | NIPT | Public policy | Reproductive decision-making | DIAGNOSIS | COMMON ANEUPLOIDIES | ATTITUDES | OBSTETRICS & GYNECOLOGY | CHOICE | DOWN-SYNDROME | EXPERIENCE | CELL-FREE DNA | Humans | Middle Aged | Male | Spouses | Trisomy 18 Syndrome - diagnosis | Insurance Coverage | Pregnancy, High-Risk | Sensitivity and Specificity | Down Syndrome - blood | Pregnant Women | Adult | Female | Surveys and Questionnaires | Down Syndrome - diagnosis | Health Policy | Attitude of Health Personnel | Prenatal Diagnosis | Patient Preference | Health Knowledge, Attitudes, Practice | Pregnancy | Trisomy 18 Syndrome - blood | Canada | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 13 Syndrome - diagnosis | Provinces | Psychological aspects | Medical personnel | Womens health | Decision making | Professionals | Diagnostic tests | Systematic review | Down syndrome | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text Optimization of regional median equations of prenatal screening markers for trisomy 21 in a Chinese population
by Xu, Liangpu and Huang, Hailong and Zheng, Lin and He, Deqin and Lin, Na and Wang, Linshuo and Lin, Yuan
Medicine, ISSN 0025-7974, 08/2018, Volume 97, Issue 35, pp. e12045 - e12045
To establish gestational age-specific and body weight-specific mid-trimester normal median equations for the prenatal serum markers a-fetoprotein (AFP), free... 
MEDICINE, GENERAL & INTERNAL | least square regression | MoM | median equation | DOWNS-SYNDROME | prenatal screening | Pregnancy Trimester, Second | Diagnosis, Differential | Humans | Chorionic Gonadotropin, beta Subunit, Human - blood | Reference Values | Gestational Age | Trisomy 18 Syndrome - diagnosis | alpha-Fetoproteins - analysis | Down Syndrome | Pregnancy | Neural Tube Defects - diagnosis | Prenatal Diagnosis - standards | Estriol - blood | China | Biomarkers | Adult | Female | Prenatal Diagnosis - methods | Prenatal diagnosis | Down syndrome | Diagnosis | Biological markers | Identification and classification | Innovations | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights