PubMed · 4457513
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L Rützler, J Briner, F Saur, W Schmid. 1974. [Mosaicism--Trisomy 8].. https://pubmed.ncbi.nlm.nih.gov/4457513/
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We found out of 1500 prenatal cardiac ultrasound examinations very small left heart in 14 cases. Six of the 14 cases were hypoplastic left heart syndrome and eight functional-secondary left heart hypoplasia. The most important signs the echocardiography in cases of hypoplastic left heart are as follow: hypoplasia of mitral valve with or without measurable flow, absence of the anterograde flow through the aortic valve, retrograde flow in the isthmus. In cases of functional left heart hypoplasia the size of the left ventricle, aorta and mitral valves were under the 3rd percentile but there were measurable anterograde flow through the aorta. In eleven cases there were other malformations: hygroma colli, diaphragmatic hernia and omphalokele. The differentiation of the hypoplastic left heart from the secondary left heart hypoplasia has a great importance because of the therapic planning and prognosis.
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This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.