Journal of Ultrasound in Medicine, Vol 13, Issue 7 529-533, Copyright © 1994 by American Institute of Ultrasound in Medicine
Fetal micrognathia: associated anomalies and outcome
B. Bromley and B. R. Benacerraf
Department of Obstetrics and Gynecology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
The purpose of this study was to evaluate the spectrum of sonographic
findings, karyotypic abnormalities, and clinical outcome in cases of fetal
micrognathia. Twenty fetuses with sonographically identified micrognathia
were identified between 15 weeks' gestation and term. Five of 20 fetuses
(25%) had abnormal karyotypes, including three with trisomy 18 and one each
with trisomy 13 and trisomy 9. Sixteen of the 20 fetuses (80%) did not
survive: Ten died in utero or during the neonatal period, and six
pregnancies were terminated electively. Three of 20 fetuses (15%) had
micrognathia as the sole sonographic finding. Two of these fetuses
survived, one with growth retardation and one with Pierre Robin syndrome.
Thirteen of 20 pregnancies were complicated by polyhydramnios. The
diversity of the syndromes represented in our cases of micrognathia
indicates a wide breadth of possible diagnoses when micrognathia is
encountered prenatally. The poor prognosis and associated karyotypic and
lethal anomalies are remarkable, with survival of only four of 20 fetuses
in this report.