Remarkable advancements related to preconception and prenatal genetic screening have emerged in recent years. While technology and testing options are more numerous and complex; fundamental genetic counseling issues remain the same. It is essential that with any prenatal genetic testing, women have an opportunity to make informed and autonomous decisions that are consistent with their personal needs and values. Opportunities to discuss testing options, including potential benefits and limitations, are often limited in obstetric visits due to time constraints or lack of sufficient provider education. As genetic testing is not considered a routine component of antepartum care, review of information regarding testing options is imperative so women can decide which, if any, testing to pursue. Developing new strategies to address the growing complexity of prenatal testing while ensuring provider education is accurate is crucial in imparting evidence-based care. This article will arm providers with the knowledge needed to educate women about currently available prenatal genetic screening and diagnostic tests along with guidance on the essential elements and importance of genetic counseling.
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http://dx.doi.org/10.1097/JPN.0000000000000374 | DOI Listing |
Andes Pediatr
August 2023
Programa Madre Canguro /Alto riesgo neonatal Subred Sur-UMHES-MEISSEN, Bogotá, Colombia.
Unlabelled: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare entity that presents abdominal wall defects, entails high morbidity and mortality, and requires multidisciplinary management.
Objective: To describe a case with an unusual association between OEIS complex and diaphragmatic hernia and to discuss its pathogenesis and possible association with other midline malformations.
Clinical Case: A preterm female newborn of 33 weeks of gestational age, with prenatal diagnosis of giant omphalocele that, at birth, presented intact amnion coverture containing the entire liver and some bowel loops, open bladder exstrophy and exposed urethral orifices; uterus didelphys, no palpable gonads, and concurrent imaging findings of pelvic soft tissue extrusion, left diaphragmatic hernia (Bochdalek), multiple bone defects, myelomeningocele, and myelocystocele.
Clin Endocrinol (Oxf)
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.
View Article and Find Full Text PDFCardiovasc Diabetol
January 2025
Department of Endocrinology and Nutrition, Virgen de la Victoria University Hospital, 29010, Málaga, Spain.
Background: The prevalence of obesity and type 2 diabetes mellitus (T2DM) is rising globally, particularly among children exposed to adverse intrauterine environments, such as those associated with gestational diabetes mellitus (GDM). Epigenetic modifications, specifically DNA methylation, have emerged as mechanisms by which early environmental exposures can predispose offspring to metabolic diseases. This study aimed to investigate DNA methylation differences in children born to mothers with GDM compared to non-GDM mothers, using saliva samples, and to assess the association of these epigenetic patterns with early growth measurements.
View Article and Find Full Text PDFNat Commun
January 2025
Division of Allergy and Immunology, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
The root of asthma can be linked to early life, with prenatal environments influencing risk. We investigate the effects of maternal asthma on the offspring's lungs during fetal and adult life. Adult offspring of asthmatic mothers show an increase in lung group 2 innate lymphoid cell (ILC2) number and function with allergen-induced lung inflammation.
View Article and Find Full Text PDFCurr Opin Psychiatry
December 2024
Department of Neuroscience, Carleton University.
Purpose Of Review: Using advanced bibliometric analysis, we systematically mapped the most current literature on urban air pollution and neurodevelopmental conditions to identify key patterns and associations. Here, we review the findings from the broader literature by discussing a distilled, validated subset of 44 representative studies.
Recent Findings: Literature highlights a complex relationship between environmental toxins, neurodevelopmental disorders in children, and neurobehavioral pathways involving oxidative stress, neuroinflammation, and protein aggregation.
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