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1. 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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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. Full Text Occurrence of nephroblastomatosis with dup(18)(q11.2‐q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication
by Starr, Lois J and Sanmann, Jennifer N and Olney, Ann Haskins and Wandoloski, Melissa and Sanger, Warren G and Coulter, Donald W
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 1079 - 1082
partial trisomy 18 | nephroblastomatosis | trisomy 18 | 18q duplication | Wilms tumor | Nephroblastomatosis | Trisomy 18 | Partial trisomy 18 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Trisomy - genetics | Wilms Tumor - genetics | Humans | Trisomy 18 Syndrome | Child, Preschool | Fetal Macrosomia - genetics | Male | Chromosomes, Human, Pair 18 - genetics | Tumors | Index Medicus
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4. Full Text Anatomy of trisomy 18
by Roberts, Wallisa and Zurada, Anna and Zurada‐ZieliŃSka, Agnieszka and Gielecki, Jerzy and Loukas, Marios
Clinical anatomy (New York, N.Y.), ISSN 0897-3806, 07/2016, Volume 29, Issue 5, pp. 628 - 632
clenched fist | ventricular septal defect | rocker bottom feet | trisomy 18 | Edward syndrome | Life Sciences & Biomedicine | Anatomy & Morphology | Science & Technology | Trisomy - diagnosis | Trisomy - genetics | Trisomy - pathology | Chromosomes, Human, Pair 18 - genetics | Prenatal Diagnosis | Trisomy 18 Syndrome | Index Medicus
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5. 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
screening | trisomies | first trimester | cell‐free DNA | combined test | prenatal diagnosis | fetal fraction | Screening | Prenatal diagnosis | Trisomies | Fetal fraction | Cell-free DNA | Combined test | First trimester | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | 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 | DNA | Miscarriage | Premature birth | Deoxyribonucleic acid--DNA | Index Medicus
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6. 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 and Syngelaki, Argyro, RM and Wagner, Marion, MD and Birdir, Cahit, MD and Nicolaides, Kypros H., MD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2012, Volume 206, Issue 4, pp. 322.e1 - 322.e5
Obstetrics and Gynecology | first trimester | trisomy 21 | trisomy 18 | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Chromosome aberrations | Medical genetics | 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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7. 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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8. Full Text Accuracy of first‐trimester combined test in screening for trisomies 21, 18 and 13
by Santorum, M and Wright, D and Syngelaki, A and Karagioti, N and Nicolaides, K. H
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 06/2017, Volume 49, Issue 6, pp. 714 - 720
screening | chromosomal abnormalities | trisomy 13 | first‐trimester combined test | trisomy 21 | trisomy 18 | first-trimester combined test | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Heart Rate, Fetal | Predictive Value of Tests | Reproducibility of Results | Prospective Studies | Humans | Chorionic Gonadotropin, beta Subunit, Human - blood | Pregnancy Trimester, First | Pregnancy | Trisomy - diagnosis | Maternal Age | Chromosomes, Human, Pair 18 | Ultrasonography, Prenatal | Nuchal Translucency Measurement | Chromosomes, Human, Pair 13 | Adult | Female | Down Syndrome - diagnosis | Heart beat | Algorithms | Chorionic gonadotropin | Analysis | Medical tests | Glycoproteins | Chromosomes | Blood proteins | Trisomy | Syngeneic grafts | Aneuploidy | Population studies | Gestation | Birth | Abortion | Accuracy | Ultrasonic imaging | Copyrights | Risk assessment | Xenografts | Triploidy | Patau's syndrome | Monosomy | Age | Risk groups | Fetuses | Test procedures | Abnormalities | Pituitary (anterior) | Gonadotropins | Medical screening | Childbirth & labor | Heart rate | Screening | Hospitals | Diagnostic systems | Miscarriage | Compatibility | Health risk assessment | Age composition | Index Medicus
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9. Full Text False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicism
by Gao, Y and Stejskal, D and Jiang, F and Wang, W
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 04/2014, Volume 43, Issue 4, pp. 477 - 478
Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Amniocentesis | Predictive Value of Tests | Mosaicism - embryology | Humans | Prenatal Diagnosis | False Negative Reactions | Genetic Counseling | Abortion, Induced | Pregnancy | Trisomy - diagnosis | Craniofacial Abnormalities - diagnosis | Sex Chromosome Aberrations | Chromosomes, Human, Pair 18 | Intellectual Disability - diagnosis | Trisomy 18 Syndrome | Chorionic Villi Sampling | Adult | Female | Pregnant women
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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
paediatric surgery | neonatology | congenital abnorm | palliative care | Life Sciences & Biomedicine | Pediatrics | Science & Technology | 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
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11. Full Text Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors
by Dan, Shan and Wang, Wei and Ren, Jinghui and Li, Yali and Hu, Hua and Xu, Zhengfeng and Lau, Tze Kin and Xie, Jianhong and Zhao, Weihua and Huang, Hefeng and Xie, Jiansheng and Sun, Luming and Zhang, Xiaohong and Wang, Weipeng and Liao, Shixiu and Qiang, Rong and Cao, Jiangxia and Zhang, Qiufang and Zhou, Yulin and Zhu, Haiyan and Zhong, Mei and Guo, Yi and Lin, Linhua and Gao, Zhiying and Yao, Hong and Zhang, Hongyun and Zhao, Lijian and Jiang, Fuman and Chen, Fang and Jiang, Hui and Li, Songgang and Li, Yingrui and Wang, Jun and Wang, Jian and Duan, Tao and Su, Yue and Zhang, Xiuqing
Prenatal diagnosis, ISSN 0197-3851, 12/2012, Volume 32, Issue 13, pp. 1225 - 1232
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Prospective Studies | Humans | Middle Aged | Down Syndrome - epidemiology | Workflow | China - epidemiology | False Positive Reactions | Maternal Serum Screening Tests | Sequence Analysis, DNA | Pregnancy | Young Adult | Trisomy - diagnosis | Chromosomes, Human, Pair 18 | Sensitivity and Specificity | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing | Down Syndrome - diagnosis | Index Medicus
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12. Full Text The unprecedented recurrent diploid/tetraploid mosaicism of trisomy‐18 (mixoploidy; 4n+18/2n+18): Clinical report
by Ozler, Sibel and Ersoy, Ali O and Oztas, Efser and Topcu, Vehap and Celen, Sevki and Danisman, Nuri
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2015, Volume 167, Issue 7, pp. 1650 - 1653
trisomy 18 | recurrent diploid/tetraploid mosaicism | Trisomy 18 | Recurrent diploid/tetraploid mosaicism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Heart - physiopathology | Humans | Male | Pregnancy | Trisomy - genetics | Pedigree | Ultrasonography, Prenatal | Karyotyping | Ploidies | Trisomy 18 Syndrome |