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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: Apr 25, 2024
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Pregnancy Loss[original query]>>Original Studies[Product Type]
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Rick Essers et al. Nat Med 2023
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Non-invasive cell-free DNA-based approach for the diagnosis of clinical miscarriage: A retrospective study.
Nuria Balaguer et al. BJOG 2023
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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
TS Hartwig et al, The Lancet, February 2, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne Alicia B et al. Nature medicine 2023
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A Multi-centre Experience of Trans-abdominal Chorionic Villus Sampling in Pakistan.
Baqai Shehla et al. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2023 33(1) 37-40
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Patients with Recurrent Pregnancy Loss Have Similar Embryonic Preimplantation Genetic Testing Aneuploidy Rates and In Vitro Fertilization Outcomes to Infertility Patients.
Kornfield Molly Siegel et al. F&S reports 2022 3(4) 342-348
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Association of Inherited Thrombophilia with Recurrent Pregnancy Loss in A Population of Lebanese Women: A Case Control Study.
Khalife Sara et al. International journal of fertility & sterility 2022 16(3) 247-251
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Association of the IL-6 gene rs1800796 polymorphism with recurrent pregnancy loss in a population of women from northwestern China: a case-control study.
Liu Qian et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2022 1-6
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The genomic basis of sporadic and recurrent pregnancy loss: a comprehensive in-depth analysis of 24,900 miscarriages.
Finley Jenna et al. Reproductive biomedicine online 2022
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The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.
Pantou Amelia et al. Journal of assisted reproduction and genetics 2022
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Use of Machine Learning to Estimate the Per-Protocol Effect of Low-Dose Aspirin on Pregnancy Outcomes: A Secondary Analysis of a Randomized Clinical Trial.
Zhong Yongqi et al. JAMA network open 2022 5(3) e2143414
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Preconception leukocyte telomere length and pregnancy outcomes among women with demonstrated fecundity.
Purdue-Smithe Alexandra C et al. Human reproduction (Oxford, England) 2021
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Cytogenetic Screening in Couples with Recurrent Pregnancy Loss: A Single-Center Study and Review of Literature.
Frikha Rim et al. Journal of human reproductive sciences 2021 14(2) 191-195
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Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Najafi Kimia et al. Scientific reports 2021 11(1) 6952
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Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
C Zhao et al, Genetics in Medicine, October 26, 2020
Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss.
Volozonoka Ludmila et al. Systems biology in reproductive medicine 2020 Oct 1-11
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Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism.
Gaddh Manila et al. TH open : companion journal to thrombosis and haemostasis 2020 Jul 4(3) e153-e162
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Machine learning algorithms to predict early pregnancy loss after in vitro fertilization-embryo transfer with fetal heart rate as a strong predictor.
Liu Lijue et al. Computer methods and programs in biomedicine 2020 Jun 196105624
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Machine Learning (ML) based-method applied in recurrent pregnancy loss (RPL) patients diagnostic work-up: a potential innovation in common clinical practice.
Bruno V et al. Scientific reports 2020 May 10(1) 7970
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Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Yaron Yuval et al. Human reproduction (Oxford, England) 2020 May
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Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss.
Zhou Yulin et al. The Journal of molecular diagnostics : JMD 2020 Apr
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A genomics approach to females with infertility and recurrent pregnancy loss.
Maddirevula Sateesh et al. Human genetics 2020 Mar
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First custom next-generation sequencing infertility panel in Latin America: design and first results.
Lorenzi Daniela et al. JBRA assisted reproduction 2020 Mar
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Attitudes toward preimplantation genetic testing for aneuploidy among patients with recurrent pregnancy loss in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2020 Feb
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Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Sato Takeshi et al. Human reproduction (Oxford, England) 2020 Jan
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Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Sato Takeshi et al. Human reproduction (Oxford, England) 2019 Dec
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Preimplantation Genetic Testing for Aneuploidy Improves Clinical, Gestational, and Neonatal Outcomes in Advanced Maternal Age Patients Without Compromising Cumulative Live-Birth Rate.
Sacchi Laura et al. Journal of assisted reproduction and genetics 2019 Nov
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Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Ahangari Najmeh et al. Archives of gynecology and obstetrics 2019 Jul
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The demise of preimplantation genetic testing for aneuploidy (PGT-A) in Hungary and its effect on patient care.
Varga Karolina et al. European journal of medical genetics 2019 May 103669
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The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening.
Evans Mark I et al. Prenatal diagnosis 2018 Sep 38(10) 730-734
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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
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National Center on Birth Defects and Developmental Disabilities
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