Publications by authors named "S Degre"
Background: Recent studies have demonstrated that a routine third-trimester ultrasound scan may improve the detection of small for gestational age infants when compared with clinically indicated ultrasound scans but with no reported reduction in severe perinatal morbidity. Establishing the optimal gestational age for the third-trimester examination necessitates evaluation of the ability to detect small for gestational age infants and to predict maternal and perinatal outcomes. Intrauterine growth restriction most often corresponds with small for gestational age infants associated with pathologic growth patterns.
View Article and Find Full Text PDFArticle Synopsis
- Researchers have linked harmful changes in the VEGFC gene to Milroy-like primary lymphedema, a genetic disorder that causes swelling in the legs due to lymphatic issues.
- The study reports the first prenatal case of this condition in a fetus, which showed swelling in both feet during an ultrasound.
- Chromosomal analysis found a deletion in the VEGFC gene, which was inherited from the mother and grandmother, showcasing the value of microarray analysis for diagnosing such genetic conditions before birth.
Article Synopsis
- Chromosomal microarray analysis (CMA) is more effective than standard karyotype in detecting genetic anomalies during prenatal assessments, especially for fetuses with isolated growth restrictions.
- This study focused on understanding how many copy number variants (CNVs) CMA can identify in cases of fetal growth restriction, where no other structural anomalies are present.
- Out of 682 fetuses studied, CMA detected genetic abnormalities in 7.5% of cases, highlighting its potential value in prenatal genetic testing compared to traditional methods.
Article Synopsis
- - Sirenomelia is a rare and severe birth defect with unknown causes, characterized by fused legs and serious internal organ issues.
- - Researchers studied nine families with this condition using advanced exome sequencing, identifying specific genetic variants in the CDX2 gene linked to two family cases, following an autosomal dominant inheritance pattern.
- - The study suggests a genetic role in sirenomelia, revealing additional potential gene variants and emphasizing the importance of the Cdx and Wnt signaling pathways in its development.
We report a case of hypophosphatasia diagnosed using US and CT at 29 weeks' gestation and confirmed by molecular analysis. Prenatal US revealed very short fetal limbs and severe demineralization of the skull. The diaphyses were normal, but the metaphyses of the long bones appeared hyperechoic with no posterior shadowing.
View Article and Find Full Text PDF