The advent of ultrasound in the 1970s heralded a milestone that could give real-time information about fetal abnormalities, and thereby improve diagnostic accuracy. This knowledge could not be used effectively to benefit the fetus for which it was intended. The 1980s saw science catching up with diagnostic advances, and fetal abnormalities could realistically be treated with an expectation of satisfactory outcomes. As a result, parents could have realistic expectations of having healthy children. Prenatal diagnosis is the first step towards this realisation, as diagnosis can be followed by intrauterine treatment. Scientists have realised that, if an abnormality can be corrected prenatally, prognosis can be improved significantly, as the initial problem does not necessarily threaten the fetus; therefore, if the prenatal condition can be dealt with early, then the downstream repercussions can be eliminated. In this chapter, we address ethical issues in prenatal diagnosis and fetal therapy.
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http://dx.doi.org/10.1016/j.bpobgyn.2012.06.004 | DOI Listing |
Hum Cell
January 2025
Department of Metabolism and Endocrinology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
The escalating diabetes prevalence has heightened interest in innovative therapeutic strategies for this disease and its complications. Human amniotic epithelial stem cells (HAESCs), originate from the innermost layer of the placenta closest to the fetus and express stem cell markers in the amniotic membrane's umbilical cord attachment area, which have garnered significant attention. This article critically examines emerging research advancements and potential application values of hAESCs in treating diabetes and its complications.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Emory University School of Medicine, Atlanta, GA, USA.
Background: The microtubule-associated Tau gene (MAPT) undergoes alternative splicing to produce isoforms with varying combinations of microtubule-binding region (MTBR) repeats (3R, 4R). The MTBR is the predominant region that forms paired helical filaments and neurofibrillary tangles fibrils in disease. Alzheimer's disease (AD) is a mixed Tauopathy containing both 3R and 4R isoforms.
View Article and Find Full Text PDFJ Glob Health
January 2025
Department of Obstetrics, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Background: Maternal obstetric characteristics have a key role in determining the occurrence of pregnancy-related disorders and subsequent neonatal outcomes. We aimed to investigate the mediating impact of gestational diabetes mellitus (GDM) and hypertensive disorder of pregnancy (HDP) on the relationship between maternal advanced age, previous caesarean section, and the risk of either large for gestational age (LGA) or small for gestational age (SGA) infants.
Methods: We used data from a prospective multicentre cohort study conducted through China's National Maternal Near-miss Surveillance System from January 2012 to December 2021.
Clin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
Clin Chem
January 2025
Prenatal Genomics and Therapy Section, Center for Precision Health Research, National Human Genome Institute, National Institutes of Health, Bethesda, MD, United States.
Background: Prenatal cell-free DNA (cfDNA) screening is a success story of clinical genomics that has translated to and transformed obstetric care. It is a highly sensitive and specific method of screening for the most common fetal aneuploidies, including trisomies 13, 18, and 21. While primarily designed to detect fetal chromosomal abnormalities, the test also analyzes maternal cfDNA, which can complicate interpretation of results.
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