Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome

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Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome

RATIONALE Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS Two pregnant women with suspicion of fetal heart anomaly were referred from their local...

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Prenatal diagnosis of absent pulmonary valve syndrome in association with 22q11 deletion.

OBJECTIVE To describe the prenatal sonographic appearances in cases of absent pulmonary valve syndrome and the importance of investigating the presence of 22q11 deletion. METHODS We describe 2 cases, which were referred because of a suspicion of a cardiac malformation. In both cases, a large anechoic mass emerging from the right ventricle was visualized and identified as an aneurysmal dilatat...

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Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation.

Absent pulmonary valve syndrome (APVS) is a rare conotruncal anomaly consisting of a severely hypoplastic pulmonary valve with annular stenosis, aneurysmal dilatation of main pulmonary artery with dilatation of one or both pulmonary artery branches, and a ventricular septal defect. Here, we report a prenatal echo diagnosis of APVS in a 27-year-old primi gravida at 20 weeks of gestation confirme...

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The prenatal diagnosis of thrombocytopeniaabsent radius (TAR) syndrome by ultrasound is established. The sonographic findings showed bilateral absence of the radii and club hands with normal thumbs and metacarpals. Thrombocytopenia was identified from the postabortal cord blood. Three-dimensional computerized tomography images confirmed the sonographic diagnosis. This report, to our knowledge, ...

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Prenatal diagnosis of thrombocytopenia-absent radius syndrome.

Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malpo...

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ژورنال

عنوان ژورنال: Medicine

سال: 2017

ISSN: 0025-7974

DOI: 10.1097/md.0000000000007747