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1. 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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2. 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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3. Full Text Screening for fetal aneuploidies at 11 to 13 weeks
by Nicolaides, Kypros H
Prenatal diagnosis, ISSN 0197-3851, 01/2011, Volume 31, Issue 1, pp. 7 - 15
serum free β‐hCG | serum PAPP‐A | nuchal translucency | aneuploidies | trisomy 21 | first‐trimester screening | Trisomy 21 | Nuchal translucency | First-trimester screening | Serum free β-hCG | Aneuploidies | Serum PAPP-A | Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy-Associated Plasma Protein-A - analysis | Humans | Chorionic Gonadotropin, beta Subunit, Human - blood | Aneuploidy | False Positive Reactions | Gestational Age | Pregnancy | Ultrasonography, Prenatal | Nuchal Translucency Measurement | Female | Down Syndrome - diagnosis | Prenatal Diagnosis - methods | Twins | Trisomy | Prenatal diagnosis | tricuspid valve | Fetuses | Pituitary (anterior) | Bone | hepatic artery | Ultrasound | Index Medicus
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4. Trisomy 13 and 18-treatment decisions in a stable gray zone
by Lantos, John D
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 07/2016, Volume 316, Issue 4, pp. 396 - 398
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Trisomy | Chromosomes, Human, Pair 18 | Surgical Procedures, Operative - mortality | Humans | Chromosomes, Human, Pair 13 | Female | Male | Medical treatment | Congenital diseases | Prophecies
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5. Full Text Dilated Fourth Ventricle in Fetuses with Trisomy 18, Trisomy 13 and Triploidy at 11–13 Weeks’ Gestation
by Loureiro, Teresa and Ferreira, Ana Fatima A and Ushakov, Fred and Montenegro, Nuno and Nicolaides, Kypros H
Fetal diagnosis and therapy, ISSN 1015-3837, 11/2012, Volume 32, Issue 3, pp. 186 - 189
Original Paper | Trisomy 21 | Aneuploidy | First trimester ultrasound | Neurosonography | Pyramid of pregnancy care | Cerebral ventricles | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Gynecology. Andrology. Obstetrics | General aspects | Delivery. Postpartum. Lactation | Medical genetics | Biological and medical sciences | Medical sciences | Chromosome aberrations | Humans | Pregnancy Trimester, First | Young Adult | Fourth Ventricle - abnormalities | Fourth Ventricle - diagnostic imaging | Down Syndrome - diagnostic imaging | Adult | Chromosome Disorders - diagnostic imaging | Female | Triploidy | Trisomy - pathology | Dilatation, Pathologic - diagnostic imaging | Imaging, Three-Dimensional | Down Syndrome - pathology | Chromosome Disorders - pathology | Dilatation, Pathologic - embryology | Hospitals, University | Chromosome Disorders - embryology | Gestational Age | Pregnancy | Down Syndrome - embryology | Chromosomes, Human, Pair 13 - diagnostic imaging | Fourth Ventricle - embryology | Crown-Rump Length | Ultrasonography, Prenatal | Trisomy 13 Syndrome | Chromosomes, Human, Pair 18 - genetics | Index Medicus
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6. 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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7. 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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8. Full Text Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant
by Abuhamda, Allam and Elsous, Aymen and Sharif, Fadel A
Case reports in medicine, ISSN 1687-9627, 2/2019, Volume 2019, pp. 4561761 - 4
Hernia | Genetic research | Child development | Chromosomes | Heart | Trisomy | Craniosynostosis | Vagina | Stenosis | Septum | Families & family life | Microcephaly | Babies | Parents & parenting | Ultrasonic imaging | Microencephaly | Consent | Nose | Chromosome 8 | Chromosome 13 | Birth weight | Palate | Patau's syndrome | Ventricle | Age | Monosomy
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9. Full Text Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis
by Goel, Nitin and Morris, Joan K and Tucker, David and de Walle, Hermien E. K and Bakker, Marian K and Kancherla, Vijaya and Marengo, Lisa and Canfield, Mark A and Kallen, Karin and Lelong, Nathalie and Camelo, Jorge L and Stallings, Erin B and Jones, Abbey M and Nance, Amy and My-Phuong Huynh and Martinez-Fernandez, Maria-Luisa and Sipek, Antonin and Pierini, Anna and Nembhard, Wendy N and Goetz, Dorit and Rissmann, Anke and Groisman, Boris and Luna-Munoz, Leonora and Szabova, Elena and Lapchenko, Serhiy and Zarante, Ignacio and Hurtado-Villa, Paula and Martinez, Laura E and Tagliabue, Giovanna and Landau, Danielle and Gatt, Miriam and Dastgiri, Saeed and Morgan, Margery
American journal of medical genetics. Part A, ISSN 1552-4825, 09/2019, Volume 179, Issue 12, pp. 2382 - 2392
SURVIVAL | Patau syndrome | trisomy 13 | PREVALENCE | TRENDS | congenital anomaly register | CHILDREN | MATERNAL AGE | trisomies | DOWN-SYNDROME | EXPERIENCE | TRISOMIES 13 | ENGLAND | trisomy 18 | Edwards syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy | Trisomy | Congenital defects | Mortality | Fetuses | Births | Infants | Patau's syndrome | Survival | Index Medicus
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10. Full Text Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation
by Kagan, K. O and Valencia, C and Livanos, P and Wright, D and Nicolaides, K. H
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 01/2009, Volume 33, Issue 1, pp. 18 - 22
free β‐hCG | tricuspid regurgitation | PAPP‐A | nuchal translucency | trisomy 21 | first‐trimester screening | Trisomy 21 | Nuchal translucency | PAPP-A | First-trimester screening | Free β-hCG | Tricuspid regurgitation | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Cardiology. Vascular system | Heart | Gynecology. Andrology. Obstetrics | Endocardial and cardiac valvular diseases | Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance | Medical genetics | Biological and medical sciences | Medical sciences | Chromosome aberrations | Trisomy | Heart Rate, Fetal - physiology | Humans | Middle Aged | Chorionic Gonadotropin, beta Subunit, Human - blood | Nuchal Translucency Measurement - methods | Tricuspid Valve Insufficiency - blood | Tricuspid Valve Insufficiency - genetics | Pregnancy Trimester, First | Young Adult | Maternal Age | Down Syndrome - blood | Adult | Female | Down Syndrome - diagnosis | Pregnancy | Turner Syndrome - diagnostic imaging | Algorithms | Chromosomes, Human, Pair 18 | Epidemiologic Methods | Adolescent | Chromosomes, Human, Pair 13 | Turner Syndrome - genetics | Pregnancy-Associated Plasma Protein-A - metabolism | Prenatal Diagnosis - methods | Tricuspid Valve Insufficiency - diagnostic imaging | Index Medicus
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