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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: Apr 25, 2024
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Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Hoda Zakaria et al. Prenat Diagn 2024
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Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.
Mangalore S Shravya et al. Clin Dysmorphol 2023
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
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Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.
J-Y Su et al. Eur Rev Med Pharmacol Sci 2023 27(15) 7101-7106
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Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.
Amanda J H Kim et al. Am J Perinatol 2023
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22
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A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.
Jiajie Tang et al. Biomedicines 2023 11(6)
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Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.
Luigia De Falco et al. Genes (Basel) 2023 14(5)
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Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study.
Lorraine Dugoff et al. American journal of obstetrics and gynecology 2023
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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan Jeffrey S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile.
Zhang Min et al. Journal of translational medicine 2022 20(1) 536
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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Ranza Emmanuelle et al. American journal of medical genetics. Part A 2022
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Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China.
Li XiaoZe et al. Journal of medical biochemistry 2022 41(3) 341-346
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Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.
Ankathil R et al. The Malaysian journal of pathology 2022 44(2) 235-244
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A study on non-invasive prenatal screening for the detection of aneuploidy.
Chen Yao et al. Ginekologia polska 2022
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The role of first-trimester ultrasound screening for women with positive noninvasive prenatal testing results.
Saito Mizue et al. The journal of obstetrics and gynaecology research 2021
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Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.
Wang Chaohong et al. BMC medical genomics 2021 14(1) 292
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Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.
Jin Xiao-Xiao et al. International journal of women's health 2021 131167-1174
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[Analysis of the results of chromosomal trisomies 21, 18 and 13 screening among 40 628 women by non-invasive prenatal testing].
Wang Dongmei et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 38(11) 1045-1050
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Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.
Gormus Uzay et al. Current issues in molecular biology 2021 43(2) 958-964
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Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Monier Isabelle et al. American journal of obstetrics and gynecology 2021
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Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders.
Qi Qi-Ge et al. International journal of general medicine 2021 141811-1817
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Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
van Riel Margot et al. Obstetrics and gynecology 2021
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Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study.
Huang Hailong et al. Risk management and healthcare policy 2021 141533-1540
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[Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome].
Hu Rui et al. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021 52(2) 319-325
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Non-invasive Prenatal Screening in Twin Pregnancies with cell-free DNA using the IONA Test: a prospective multicentre study.
Khalil Asma et al. American journal of obstetrics and gynecology 2021 Jan
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[Application of Array-based Comparative Genomic Hybridization in the Prenatal Diagnosis of Fetal Chromosomal Aberration in Gravidas with Advanced Age].
Hu Rui et al. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021 Jan 52(1) 117-123
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National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.
Lund Ida C B et al. Acta obstetricia et gynecologica Scandinavica 2020 Nov
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[Confirmation and analysis of 2 398 positive results of cell-free fetal DNA].
Zhao J H et al. Zhonghua fu chan ke za zhi 2020 Oct 55(10) 679-684
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First-Trimester Nonvisualization of the Parotid Gland and Aneuploidy in Fetuses With Increased Nuchal Translucency: A Prospective Cohort Study.
Perlman Sharon et al. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2020 Jun
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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