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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
Journal Article
Journal Article
Journal Article
Human Reproduction, ISSN 0268-1161, 10/2015, Volume 30, Issue 10, pp. 2419 - 2426
Journal Article
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2006, Volume 91, Issue 10, pp. 3897 - 3902
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2003, Volume 88, Issue 2, pp. 622 - 626
Journal Article
International Journal of Cardiology, ISSN 0167-5273, 2012, Volume 168, Issue 2, pp. 754 - 759
Journal Article
BMJ (Clinical research ed.), ISSN 1756-1833, 2012, Volume 345, Issue 7889, pp. e7558 - e7558
  Here, Blevins and Wilson discusses Klinefelter's syndrome. Klinefelter's syndrome is the clinical result of an additional X chromosome in males (47,XXY),... 
Klinefelter Syndrome - diagnosis | Adult | Male | Delayed Diagnosis | Diagnostic Errors | Humans | Medical diagnosis | Medical treatment | Genetic disorders | Index Medicus | Abridged Index Medicus
Journal Article
Journal of International Medical Research, ISSN 0300-0605, 4/2017, Volume 45, Issue 2, pp. 621 - 630
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal... 
cffDNA | High-throughput sequencing | prenatal diagnosis | sex chromosomal aneuploidies | noninvasive prenatal testing | prenatal screening | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | TRISOMIES 21 | POSITION STATEMENT | CLINICAL-EXPERIENCE | INACTIVATION | PLASMA | PREGNANCIES | ABNORMALITY | CONFINED PLACENTAL MOSAICISM | PHARMACOLOGY & PHARMACY | CELL-FREE DNA | Predictive Value of Tests | Pregnancy Trimester, Second | XYY Karyotype - pathology | Humans | Sex Chromosomes - pathology | Aneuploidy | Sex Chromosome Disorders - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Sex Chromosome Disorders of Sex Development - blood | Noonan Syndrome - blood | DNA - blood | Klinefelter Syndrome - blood | Noonan Syndrome - pathology | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Karyotyping | Sex Chromosome Disorders - blood | Adult | Female | Fetus | Sex Chromosome Disorders - genetics | Sex Chromosome Disorders of Sex Development - pathology | Trisomy - pathology | Noonan Syndrome - diagnosis | Sex Chromosomes - chemistry | Prenatal Diagnosis - statistics & numerical data | Klinefelter Syndrome - pathology | Sex Chromosome Disorders - pathology | Chromosomes, Human, X - genetics | Noonan Syndrome - genetics | XYY Karyotype - diagnosis | DNA - genetics | Pregnancy | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | XYY Karyotype - genetics | XYY Karyotype - blood | Klinefelter Syndrome - diagnosis | High-Throughput Nucleotide Sequencing | Index Medicus | Research Reports
Journal Article