Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia - A case report

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Ferreira, A (Author) Other; matias, a (Author) FMUP; Brandao, O (Author) Other; Montenegro N (Author) FMUP

Journal

Title: Fetal Diagnosis and Therapy

Vol. 19

Pages: 241-245

ISSN: 1015-3837

Publisher: Karger

Indexing

ISI Web of Knowledge - 11 Citations

Scopus - 16 Citations

Other information

Authenticus ID: P-000-CQX

DOI: 10.1159/000076705

Abstract (EN): Thanatophoric dysplasia (TD) is the most frequent form of lethal osteochondrodysplasias. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD may not be clearly distinguished from the other osteochondrodysplasias, with consequent important prognostic implications. However, in order to confirm the diagnosis, complementary radiological, pathological and molecular studies are mandatory. We present a case of TD diagnosed in the late first trimester with the contribution of nuchal translucency combined with ductus venosus blood flow assessment. Copyright (C) 2004 S. Karger AG, Basel.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5