نتایج جستجو برای: prenatal ultrasound
تعداد نتایج: 143014 فیلتر نتایج به سال:
KEY CLINICAL MESSAGE Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and the limitations of the prenatal ultrasound and the postnatal MRI are discussed.
BACKGROUND Short bowel syndrome (SBS) is a severe malabsorption caused by bowel loss. Congenital intestinal anomalies (CIA) detectable by prenatal ultrasound as jejunoileal atresia, meconium peritonitis, complicated meconium ileus, and fetal volvulus can be responsible for SBS. AIMS This study aims to investigate either frequency of SBS or the morbidity in CIA population during the first admi...
Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract...
Congenital granular cell tumor is a rare benign neoplastic growth affecting the gingival mucosa of neonates. Prenatal ultrasound diagnosis has recently come to focus and in spite of several reports on immune-histochemical and other advanced marker studies, the cause and origin of the lesion remains debatable till date. Review of literature on prenatal diagnosis and histopathology along with imm...
Klippel-Trenaunay-Weber syndrome is a rare cutaneous vascular disorder characterized by the presence of multiple hemangiomata, arteriovenous fistulas, and limb hypertrophy. We report the prenatal sonographic findings in a case of Klippel-Trenaunay-Weber (KTW) syndrome including fetal limb hypertrophy and large subcutaneous cystic lesions. Prenatal diagnosis is possible by ultrasound examination...
Background: Using contemporary ultrasound equipment, it is possible to diagnose CNS defects in prenatal life. Many can be detected by the first and early second trimesters. 4D ultrasonography has a high sensitivity for detecting abnormalities used detect some foetal disorders.
This is a case report of a 39-year-old pregnant woman whose fetus was found to have a large hydrocephalus on routine prenatal ultrasound at the 29th gestational week. A 56 mm × 73 mm mass was detected in the fetal brain arising from the brainstem and invading the third cerebral ventricle. On the subsequent fetal cranial MRI, T2-weighted image the tumor measured 55 mm × 50 mm × 48 mm and had a n...
Duplication 17p11.2 (Potocki-Lupski syndrome (PTLS) MIM# 610883) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for other genomic disorders this duplication is typically de novo and is not associated with advanced maternal age or advanced paternal age. Herein we describe a prenatal diagnosis of duplication 17p11.2. This diagnosis was not suspected as the prenatal ul...
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype-phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities.
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