Genetic screening and counseling have become routinely offered during prenatal care in the United States, involving invasive and noninvasive options for assessing fetal genetics. As DNA testing continues to expand proportionately to the increasing ability to detect genetic variations, ethical and fiscal concerns arise. Societal shifts, such as delayed childbearing and the associated genetic consequences, have made antenatal genetic screening more common. Still, genetic screening may be confounded by inaccurate information, false-positives, socioeconomic barriers to testing, and cultural differences. This article reviews these concerns and provides a framework for training in family medicine obstetrics training.
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http://dx.doi.org/10.1016/j.pop.2011.11.010 | DOI Listing |
J Anim Sci
January 2025
Department of Animal Science, Federal University of Viçosa, Viçosa, MG, 36570-900, Brazil.
Pig production is an agricultural sector of great economic and social relevance to Brazil and global markets. Feed efficiency traits directly influence the sustainability of pig production due to the economic impact of feed costs on the production system and the environmental footprint of the industry. Therefore, breeding for improved feed efficiency has been a target of worldwide pig breeding programs.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Immunology and Microbiology, Key Laboratory of Tropical Disease Control of Ministry of Education, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510000, China.
The LIM-domain-only protein LMO2 interacts with LDB1 in context-dependent multiprotein complexes and plays key roles in erythropoiesis and T cell leukemogenesis, but whether they have any roles in B cells is unclear. Through a CRISPR/Cas9-based loss-of-function screening, we identified LMO2 and LDB1 as factors for class switch recombination (CSR) in murine B cells. LMO2 contributes to CSR at least in part by promoting end joining of DNA double-strand breaks (DSBs) and inhibiting end resection.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.
PGT-A, what's it for? Considering the increase in fetal aneuploidies with a woman's age and the high number of miscarriages associated with fetal karyotype anomalies, the concept of selecting IVF embryos based on their karyotype in order to transfer only euploid embryos and eliminate aneuploid ones was proposed. Preimplantation genetic testing for aneuploidy (PGT-A) was then established, nearly 30 years ago, with the expectation that the transfer of euploid embryos would lead to a significant improvement in medically assisted reproduction (MAR) outcomes. PGT-A, what's wrong? Despite the practice and widespread use, PGT-A has not consistently proven its effectiveness.
View Article and Find Full Text PDFFertil Steril
January 2025
Department of Obstetrics, Gynecology and Women's Health, Albert Einstein College of Medicine, Montefiore's Institute for Reproductive Medicine and Health, Hartsdale, New York.
Mov Disord Clin Pract
January 2025
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Hôpital de la Salpêtrière, INSERM, CNRS, Paris, France.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.
Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.
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