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First‐trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome
Author(s) -
Teoh M.,
Meagher S.
Publication year - 2003
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.141
Subject(s) - medicine , amniocentesis , pierre robin syndrome , gestation , chin , first trimester , presentation (obstetrics) , prenatal diagnosis , abnormality , fetus , anatomy , pregnancy , obstetrics , surgery , genetics , psychiatry , biology
We describe a case of first‐trimester diagnosis of micrognathia. A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin. A subsequent amniocentesis at 15 weeks' gestation revealed a normal karyotype. A morphology scan and subsequent postmortem examination at 19 weeks confirmed the first‐trimester findings and revealed, in addition to the facial pathology, a complex cardiac abnormality and unilateral talipes equinovarus. These findings are consistent with the diagnosis of Pierre Robin syndrome. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.