Hydrometrocolpos is a rare finding in newborns. It can be an isolated finding or may be associated with syndromes. Antenatal diagnosis is possible. It is due to the accumulation of secretion in the uterus, distending it and resulting in abdominal swelling. In case of suspected syndromes, an attempt should be made to look for other organ involvement and genetic diagnosis. We here report a term neonate with hydrometrocolpos, which was antenatally diagnosed and was managed conservatively.
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http://dx.doi.org/10.1136/bcr-2022-253985 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749151 | PMC |
Mol Genet Genomic Med
January 2025
Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background: Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods: In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection.
Hepatitis B virus (HBV) remains a critical public health issue in low- and middle-income countries (LMICs), particularly among pregnant women in Nigeria. Routine screening using rapid diagnostic kits is common in antenatal care, yet the accuracy of these tests can vary. This study aimed to determine the seroprevalencwe of HBV among pregnant women who had previously undergone screening using rapid diagnostic kits at Obafemi Awolowo Teaching Hospital, Ilesa, Osun State, Nigeria, to assess the effectiveness of initial screening and identify any missed cases.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFAutism Res
January 2025
COMPASS, Faculty of Arts, The University of Auckland, Auckland, New Zealand.
This study explored gross motor development (GMD) trajectories among 6359 children, with and without autism, from the Growing Up in New Zealand longitudinal cohort study. By the age of 8, 173 children had either an autism diagnosis (n = 108) or parent-reported autism concerns (n = 65). Gross motor milestones were reported by mothers when children were 9, 24, and 54 months of age.
View Article and Find Full Text PDFMediterr J Hematol Infect Dis
January 2025
Department of Diabetes and Endocrinology, Whittington Hospital, University College London, London, UK.
Background: Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years.
Objective: Assessment of adherence to OGTT screening in patients with TDT.
Methods: A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients.
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