Prenatal ultrasound is a radiological examination that allows optimal follow-up of pregnancies. However, its implementation remains limited in poor countries due to a lack of equipment and trained health workers, such as in Burkina Faso. The aim of this work is to set up an ultrasound tele-expertise system. To achieve this objective, we mobilized human, material and IT resources. The design of the tele-expertise application was based on a generic open source software called "MedShakeEHR" that we have adapted to our context. The application runs in a network on a Linux system. It enables ultrasound data exchange and sharing with a remote expert for interpretation using the DICOM protocol. This device thus offers the possibility to pregnant women to carry out their prenatal ultrasound locally. It also allows the constitution of prenatal ultrasound database according security and confidentiality standards.
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http://dx.doi.org/10.3233/SHTI210880 | DOI Listing |
Medicine (Baltimore)
January 2025
Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.
Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.
View Article and Find Full Text PDFQJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
Cureus
December 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly.
View Article and Find Full Text PDFCureus
December 2024
Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.
Iniencephaly is a rare malformation of the base of the cranium, with an almost always fatal prognosis. This condition is part of the category of defects related to neural tube closure. Prenatal diagnosis can now be performed through ultrasound evaluation, allowing timely counseling.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Pharmacology, Tokyo Dental College, 2-9-18, Kandamisaki-cho, Chiyoda-ku, Tokyo, 101-0061, Japan.
Hypophosphatasia (HPP) is a congenital bone disease caused by tissue-nonspecific mutations in the alkaline phosphatase gene. It is classified into six types: severe perinatal, benign prenatal, infantile, pediatric, adult, and odonto. HPP with femoral hypoplasia on fetal ultrasonography, seizures, or early loss of primary teeth can be easily diagnosed.
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