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Abnormal Uterine Bleeding
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Category Obstetrics and Gynecology
Premenstrual Syndrome and Dysmenorrhea
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The Menstrual Cycle
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Prenatal Treatment of Genetic Diseases in the Unborn
Introduction: Benefits of Prenatal Genetic Diagnosis Beyond the Option of Termination For several decades, prenatal genetic testing was available to pregnant women in three different situations. Traditional karyotyping was offered to a large group of women at increased risk for…
Maternal Circulating Nucleic Acids as Markers of Placental Health
Introduction Adverse pregnancy outcomes are a major cause of the global burden of disease. Many of these outcomes, such as fetal growth restriction (FGR), preeclampsia, and placental abruption, are related to placental dysfunction. These complications can have profound effects on…
Cell-Based Noninvasive Prenatal Testing: A Promising Path for Prenatal Diagnosis
Introduction: The Changing Landscape of Prenatal Diagnosis In recent years, increased interest in noninvasive prenatal testing (NIPT) methods led to the commercialization and clinical implementation of NIPT based on the analysis of “fetal” cell-free DNA (cfDNA) isolated from maternal blood…
Exome Sequencing in the Evaluation of the Fetus With Structural Anomalies
Acknowledgments With thanks to Elizabeth Young (Clinical Scientist, West Midlands Regional Genetics Laboratory) for her input in the section on cfDNA-based (noninvasive) prenatal testing. Funding Sources Elizabeth Quinlan-Jones is funded through the Department of Health, Wellcome Trust, Health Innovation Challenge…
Cost-Effectiveness of Cell-Free DNA-Based Noninvasive Prenatal Testing: Summary of Evidence and Challenges
Introduction Systematic reviews have demonstrated that noninvasive prenatal testing (NIPT) based on sequencing of cell-free DNA in maternal plasma is a highly effective screening test for Down's syndrome (trisomy 21) . It can also be used to screen for Patau…
Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination
Introduction Cell-free DNA-based prenatal testing (further: cfDNA testing) is a new technology that may both be used as a diagnostic test in the context of prenatal diagnosis of monogenetic disorders and as a second or first tier test in the…
Cell-Free DNA-Based Noninvasive Prenatal Testing and Society
Introduction Cell-Free DNA-Based NIPT: A New Test in an Old Debate Discussions on ethical and social issues have accompanied the emergence of prenatal testing and screening since the 1970s. Developments in prenatal diagnosis and screening as well as the ethical…