Arthrogryposis multiplex congenita (AMC) is a symptom complex of congenital joint contractures associated with neurogenic and myopathic disorders. It is diagnosed at birth and often progresses to a state of significant disability. Pregnancy in a woman with AMC is at high risk due to diminished pulmonary reserve, increased risk of thromboembolism and anesthesia. Successful pregnancy in patients with AMC is very rare and only five cases have been reported in literature. Present case is being reported due to its rarity.
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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.
View Article and Find Full Text PDFCase Rep Cardiol
December 2024
Internal Medicine Department, Isfahan University of Medical Sciences, Isfahan, Iran.
Aortic dissection (AoD) is a rare fatal condition in which tearing in the intima causes a false channel in the aorta and can lead to rupture. AoD is classified as the DeBakey classification (Types I, II, III) and Stanford classification (Types A and B). Women with underlying risk factors such as hypertension, smoking, bicuspid aortic valve, and connective tissue disorders are at risk for pregnancy-related AoD.
View Article and Find Full Text PDFSSM Qual Res Health
December 2024
Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, 4940 Eastern Ave, Baltimore, MD, 21224, USA.
Background: Many pregnant individuals with opioid use disorder (OUD) spend time in jail, yet access to standard of care medications for OUD (MOUD) in jail is limited. Though qualitative studies of non-incarcerated pregnant and non-pregnant incarcerated individuals with OUD demonstrate complexities that must be considered in delivering effective care, studies with pregnant, incarcerated patients with OUD are lacking.
Methods: We conducted semi-structured qualitative interviews from October 2020-November 2021 with pregnant and postpartum people with OUD who were currently or previously in jail in Florida, Maryland, Ohio, and Virginia.
Rev Int Androl
December 2024
Urology Department, Hospital Center Vila Nova de Gaia and Espinho, 4405-843 Vila Nova de Gaia, Portugal.
Background: Vasectomy reversal (VR) is the only technique that allows men previously submitted to a vasectomy to conceive by natural pregnancy. We report our experience with microsurgical VR and identify predictive factors of natural pregnancy.
Methods: We retrospectively reviewed all patients submitted to VR by a single surgeon from 2008 to 2021 at our single center.
J Clin Invest
January 2025
Approximately 1 in 200 newborns worldwide are affected by congenital cytomegalovirus (CMV). Most of these cases are asymptomatic due to successful control of the infection by the newborn's immune system. In this issue of the JCI, Semmes et al.
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