Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.

Abstract:

OBJECTIVE:We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks' gestation. METHODS:Prenatal sonographic examinations performed at 23 weeks' gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. RESULTS:A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. CONCLUSION:Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling.

journal_name

Fetal Diagn Ther

authors

Tsutsumi S,Sawai H,Nishimura G,Hayasaka K,Kurachi H

doi

10.1159/000170092

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

420-4

issue

4

eissn

1015-3837

issn

1421-9964

pii

000170092

journal_volume

24

pub_type

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