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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFLong read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Trends in global and regional incidence and prevalence of hypertensive disordersin pregnancy (1990-2021): an age-period-cohort analysis.
Sci Rep
January 2025
Department of Gynecology, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan, 750002, Ningxia, China.
Hypertensive disorders of pregnancy (HDP) are significant global health issues. This study utilized data from the Global Burden of Disease Study 2021 to analyze trends in incidence, prevalence, and Disability-Adjusted Life Years (DALY) associated with HDP across 204 countries from 1990 to 2021. The analysis employed estimated annual percentage changes and an age-period-cohort model, stratifying data by age, year, geographical region, and sociodemographic index (SDI).
View Article and Find Full Text PDFAnatomic Approach to Fetal Hydrocephalus.
Radiographics
February 2025
From the Departments of Radiology and Imaging Sciences (A.M.G., P.J.W., A.M.K.) and Obstetrics and Gynecology (S.E.D.), University of Utah Health, 30 N Mario Capecchi Dr, Salt Lake City, UT 84112; and University of Utah School of Medicine, Salt Lake City, Utah (J.N.C.).
Hydrocephalus is an imprecise term and refers to the imbalance of brain parenchyma and cerebral spinal fluid in the cranial vault. Ventriculomegaly, or enlargement of the ventricular system, is often the more precise term and is therefore preferred. Appropriate imaging and measurement techniques are critical to detect ventriculomegaly and grade its severity.
View Article and Find Full Text PDFAssociation between maternal anemia during pregnancy and risk of eczema in early childhood: A cohort study in Japan.
Allergol Immunopathol (Madr)
January 2025
Department of Epidemiology and Public Health, Ehime University Graduate School of Medicine, Ehime, Japan.
Background: There is limited evidence on the association between maternal anemia during pregnancy and the risk of childhood allergic disorders, with regards to atopic eczema. The current pre-birth cohort study aimed to examine the association between maternal anemia during pregnancy and the risk of atopic eczema in Japanese 2-year-olds.
Methods: The study included 1354 Japanese mother-child pairs.
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