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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)
Reproductive and Child Health
Last data update: May 07, 2024
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Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study.
Sangeetha Arumugam et al. Cureus 2024 16(3) e56932
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Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
Miruna Gug et al. J Pers Med 2024 14(4)
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Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
Erica Soster et al. Mol Cytogenet 2024 17(1) 9
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Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761
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Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting.
Sarah Burzynski et al. J Genet Couns 2024
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Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.
Kara Bellai-Dussault et al. JAMA Netw Open 2024 7(3) e243689
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A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.
Hong Su et al. Medicine (Baltimore) 2024 103(13) e37610
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Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
Xuan-Hong To-Mai et al. Sci Rep 2024 14(1) 7461
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Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Enrica Marchionni et al. Eur J Hum Genet 2024
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
Nchangwi Syntia Munung et al. Eur J Hum Genet 2024
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Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States.
Shameka P Thomas et al. AJOB Empir Bioeth 2024 1-10
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Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis.
et al. Nat Med 2024
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The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.
Yimei Li et al. Heliyon 2024 10(2) e24155
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Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.
Hyunjin Kim et al. BMC Pregnancy Childbirth 2024 24(1) 93
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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Joie O Olayiwola et al. Mol Genet Genomic Med 2024 e2349
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Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
Changhong Wang et al. Mol Genet Genomic Med 2024 12(1) e2352
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Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Jinglan Zhang et al. Nat Med 2024
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Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.
Olivia M Moran et al. F S Rep 2024 4(4) 353-360
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Prenatal Genetic Testing Is Rapidly Evolving. Here’s Why That Matters.
M Holmes, Huffington Post, January 12, 2024
Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR.
Sona Laššáková et al. Sci Rep 2023 13(1) 22948
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Perceptions and Attitudes Toward Genetic Counselors and Genetic Testing Among Certified Professional Midwives in Vermont: A Modified Grounded Theory Study.
Jazmine L Gabriel et al. Qual Health Res 2023 10497323231222395
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Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study.
Iris M Bakkeren et al. Eur J Hum Genet 2023
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Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
Kimberly Martin et al. Prenat Diagn 2023
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Prenatal aneuploidy screening and its impact on stillbirth etiology evaluation.
Gianna L Wilkie et al. Minerva Obstet Gynecol 2023
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Non-invasive prenatal testing: a revolutionary journey in prenatal testing.
Malak Abedalthagafi et al. Front Med (Lausanne) 2023 101265090
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Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.
Irina Ioana Iordanescu et al. Front Genet 2023 141258752
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Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study
IM Bakkeren et al, EJHG, December 7, 2023
A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
Wei Luo et al. BMC Pregnancy Childbirth 2023 23(1) 791
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Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.
Adeline Perrot et al. J Genet Couns 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 07, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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