A rare congenital condition known as hydrometrocolpos (HMC) is characterized by the buildup of secretions in the vagina and uterus as a result of distal obstruction; this condition is frequently linked to imperforate hymen. This case report presents a prenatal diagnosis of isolated HMC in a 30-year-old primigravida, detected at 36 weeks gestation. Initial ultrasound revealed a large cystic mass, confirmed by fetal magnetic resonance imaging to be HMC. Postnatal examination of the new born confirmed imperforate hymen and HMC, which was effectively treated with hymenotomy, resulting in early resolution. This case underscores the importance of prenatal imaging in the early identification and management of HMC to prevent potential complications.
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http://dx.doi.org/10.1016/j.radcr.2024.08.150 | DOI Listing |
Prenat Diagn
January 2025
Department of Artificial Intelligence, Faculty of Computer Science and Information Technology, Universiti Malaya, Kuala Lumpur, Malaysia.
Objective: The first objective is to develop a nuchal thickness reference chart. The second objective is to compare rule-based algorithms and machine learning models in predicting small-for-gestational-age infants.
Method: This retrospective study involved singleton pregnancies at University Malaya Medical Centre, Malaysia, developed a nuchal thickness chart and evaluated its predictive value for small-for-gestational-age using Malaysian and Singapore cohorts.
Case Rep Neurol Med
January 2025
Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Determining the differential diagnosis of small scalp cysts identified on a fetus is difficult. In particular, many physicians have difficulty differentiating small meningoceles from small scalp cysts during the prenatal period. Volume contrast imaging increases contrast between tissues, thereby allowing an enhanced view of target structures.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Reprod Health
January 2025
School of Medicine, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Background: Today, the screening of fetal abnormalities during pregnancy is used as one of the components of the prenatal care worldwide, and many abnormalities are detected by ultrasound during pregnancy. On the other hand, the possibility of an abnormality in the fetus causes worry and anxiety in pregnant women. Therefore, the present study was conducted with the aim of determining the relationship between worry and anxiety with the general health status of pregnant women at risk of diagnosing fetal abnormalities.
View Article and Find Full Text PDFBMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
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