Last Posted: Jun 10, 2021
- Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
Morshneva Alisa et al. Genes 2021 12(5)
- Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies.
Lenaerts Liesbeth et al. EClinicalMedicine 2021 35100856
- Do non-invasive prenatal tests promote discrimination against people with Down syndrome? What should be done?
Zerres Klaus et al. Journal of perinatal medicine 2021
- Moral ambivalence. A comment on non-invasive prenatal testing from an ethical perspective.
Heinrichs Bert et al. Journal of perinatal medicine 2021
- Non-invasive prenatal testing: Special interest groups vs women's autonomy.
Breimer Lars H et al. Indian journal of medical ethics 2021 V(4) 1-9
- Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
van Riel Margot et al. Obstetrics and gynecology 2021
- Practice patterns of prenatal and perinatal testing in Canadian cytogenetics laboratories.
Ashfield Tamara et al. Prenatal diagnosis 2021
- The Emergence and Global Spread of Noninvasive Prenatal Testing.
Ravitsky Vardit et al. Annual review of genomics and human genetics 2021
- Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions otherthan trisomies 13, 18, and 21 should be offered.
Christiaens Lieve et al. Prenatal diagnosis 2021
- Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.
La Verde Marco et al. BMC medical genomics 2021 14(1) 93
- Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.
Guseh Stephanie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3
- Professionally responsible management of the ethical and social challenges of antenatal screening and diagnosis of β-thalassemia in a high-risk population.
Corda Valentina et al. Journal of perinatal medicine 2021
- Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants
E Soster et al, Genetics in Medicine, March 17, 2021
- Cell-free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review.
Familiari Alessandra et al. Prenatal diagnosis 2021
- Noninvasive prenatal testing for β-thalassemia by targeted nanopore sequencing combined with relative haplotype dosage (RHDO): a feasibility study.
Jiang Fuman et al. Scientific reports 2021 11(1) 5714
- Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders.
Copeland H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb
- Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices.
Zaami Simona et al. Genes 2021 Jan 12(2)
- Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China.
Yang Jiexia et al. Journal of assisted reproduction and genetics 2021 Feb
- Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.
Chen Chao et al. Genome medicine 2021 Feb 13(1) 18
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Guadagnolo Daniele et al. Diagnostics (Basel, Switzerland) 2021 Feb 11(2)
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- Genomic Tests Evidence Synthesis (69)
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- State Public Health Genomics Programs (3)
- Ethical/Legal and Social Issues (ELSI) (26)
Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.