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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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Prenatal aneuploidy screening and its impact on stillbirth etiology evaluation.
Gianna L Wilkie et al. Minerva Obstet Gynecol 2023
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Experts say Found’s story highlights the extraordinary complexity of the problem for pregnant people living with SCD – and the critical importance of receiving proper, specialized care as early as possible. This is especially true now that medical advances in care and disease-modifying therapies have helped many people living with SCD survive well through their reproductive years. For parents-to-be, that means awareness is key. Individuals with SCD are at higher risk than the general population for preeclampsia, as Found discovered; but those with preeclampsia can go on to develop a condition called eclampsia, which can lead to seizures and even coma. People with SCD are also at higher risk for sepsis and blood clots. And there are risks for the fetus, such as lower-than-normal growth in the womb, preterm delivery, and stillbirth.
K Miller, Self, September 2023
Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results.
Mary E Norton et al. American journal of obstetrics and gynecology 2023
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Intergenerational trends in reproduction: Infertility and pregnancy loss.
Woolner Andrea Mf et al. Best practice & research. Clinical obstetrics & gynaecology 2023 102305
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Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.
Avram Carmen M et al. American journal of obstetrics & gynecology MFM 2022 100724
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Mendelian randomization study of maternal coffee consumption and its influence on birthweight, stillbirth, miscarriage, gestational age and pre-term birth.
Brito Nunes Caroline et al. International journal of epidemiology 2022
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A systematic review to guide future efforts in the determination of genetic causes of pregnancy loss.
Carey Andrew Z et al. Frontiers in reproductive health 2022 3
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Preconception leisure-time physical activity and family history of stroke and myocardial infarction associate with preterm delivery: findings from a Norwegian cohort.
Engen Tone et al. BMC pregnancy and childbirth 2022 22(1) 341
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Causal Genetic Variants in Stillbirth
KE Stanley et al, NEJM, August 12, 2020
Genomic Insights into Stillbirth
MH Wojick, NEJM, August 12, 2020
Application of Non-Invasive Prenatal Tests in Serological Preclinical Screening for Women with Critical-Risk and Low-Risk Pregnancies but Abnormal Multiple of the Median Values.
Yin Lianli et al. Clinical laboratory 2020 Jul 66(7)
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Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
Marquès Borja et al. Fetal diagnosis and therapy 2020 Jan 1-6
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Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work-up: systematic review and meta-analysis.
Martinez-Portilla R J et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 May 53(5) 590-597
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Mothers with long QT syndrome are at increased risk for fetal death: Findings from a multicenter international study.
Cuneo Bettina F et al. American journal of obstetrics and gynecology 2019 Sep
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CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
Fundamental Knowledge of Microbes Shedding New Light on Human Health
F Collins, NIH Director blog, May 29, 2019
Exposure to tobacco smoke and low birth weight: from epidemiology to metabolomics.
Dessì Angelica et al. Expert review of proteomics 2018 Jul
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Implementing a Protocol to Optimize Detection of Chromosome Abnormalities in Cases of Miscarriage or Stillbirth at a Midwestern Teaching Hospital.
Kubendran Shobana et al. The Permanente journal 2018 Jul 22
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Genomic testing for the causes of stillbirth should be considered for routine use
Eureka Alert, June 18, 2018
In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.
Campbell Jamie et al. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 21(3) 308-318
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Evaluation of stillbirth.
Page Jessica M et al. Current opinion in obstetrics & gynecology 2018 Apr 30(2) 130-135
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Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe Patricia B et al. Circulation. Genomic and precision medicine 2018 Jan 11(1) e001817
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Reciprocal Relationships: the Genetic Counselor-Patient Relationship Following a Life-Limiting Prenatal Diagnosis.
Williams S R et al. Journal of genetic counseling 2017 Apr 26(2) 337-354
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Diagnostic Tests for Evaluation of Stillbirth: Results From the Stillbirth Collaborative Research Network.
Page Jessica M et al. Obstetrics and gynecology 2017 Apr 129(4) 699-706
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Diagnostic utility of microarray testing in pregnancy loss.
Rosenfeld J A et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 Oct (4) 478-86
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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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