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Sonographic diagnosis of fetal upper extremity dysmorphology: significance and outcome
Author(s) -
Zelop C.,
Benacerraf B.
Publication year - 1996
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 - 10.1046/j.1469-0705.1997.08060391.x
Subject(s) - medicine , polyhydramnios , oligohydramnios , fetus , trisomy , etiology , aneuploidy , obstetrics , prenatal diagnosis , pregnancy , pathology , chromosome , biochemistry , genetics , chemistry , gene , biology
The aim of this study was to determine the etiology, associated anomalies and outcome of fetuses with postural deformities and contractures of the upper extremities detected sonographically. Fifty‐four fetuses with sonographically detected postural anomalies of the upper extremities were identified from our database. Sonographic findings and associated anomalies were tabulated on the basis of the original sonogram. Perinatal follow‐up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology reports. Of the 52 fetuses with sonographically detected anomalies of the upper extremities, 44 (85%) were non‐survivors and eight (15%) were survivors. Forty‐three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploidy, with trisomy 18 accounting for 23/26 (88%). In the setting of a normal karyotype, a variety of genetic disorders were found, including syndromes involving the fetal dyskinesialakinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyhydramnios and one with oligohydramnios). In conclusion, the sonographic detection of postural abnormalities of the upper extremities carries a guarded prognosis, with survival in 15% of fetuses and a high incidence of chromosomal defects. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology