OBJECTIVE To characterize the prenatal sonographic features of osteogenesis imperfecta (OI) type II. DESIGN Descriptive (case series). SETTING Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS Six fetuses with prenatal diagnosis of OI were evaluated. RESULTS Six fetuses were prenatally diagnosed as OI type I...

RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...

rachnoid cysts are intra-arachnoid sacs containing cerebrospinal fluid–like liquid and represent 1% of all intracranial masses in neonates.1 Although well reported, the precise etiology and pathogenesis of arachnoid cysts are uncertain. Being developmental in origin, arachnoid cysts can be detected on prenatal screening. Although sonography is used routinely for fetal assessment, it is difficul...

Noninvasive prenatal testing and fetal sonographic screening roundtable discussion Lee W, Yagel S, Cohen, SM, Benacerraf BR, Cuckle H, Kagan KO, Van den Veyver I, Wapner R. J Ultrasound Med 2015; 34 (3): 363–69. Seven leading clinicians from Israel, USA, England and Germany were sent 10 questions about non-invasive prenatal testing (NIPT) and their responses were summarised. As might be expecte...

ydranencephaly is a severe, sporadic brain abnormality characterized by absence of the cerebral hemispheres, which are replaced by a large supratentorial fluid-filled saclike structure surrounding the brain stem.1,2 This condition is thought to be the result of extensive brain necrosis secondary to a vascular insult involving the internal carotid arteries, which occurs after the brain and ventr...

In spite of the widespread use of obstetrical sonography, the prenatal detection of presumed adrenal hemorrhage remains extremely unPathologic proof is ~ a r e . ~ , ~ Several authors have noted adrenal calcifications at birth and have speculated that they represent the sequelae of prenatal adrenal hemorrhage. However, without pathologic proof, differentiation from spontaneously resolved neurob...

Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal ge...

Although the prenatal diagnosis of heart anomalies has improved dramatically during the last 2 decades, the diagnosis of heart anomalies remains a challenge. Tricuspid stenosis has not been previously diagnosed in the early second trimester. The sonographic signs of early detection of tricuspid stenosis at 15 weeks of gestation included normal sized right atrium, small right ventricle, narrow p...