SONOGRAPHIC DIAGNOSIS OF FETAL UPPER EXTREMITY DYSMORPHOLOGY - SIGNIFICANCE AND OUTCOME

The aim of this study was to determine the etiology, associated anomal ies 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 extremit ies were identified from our database. Sonographic findings and associ ated anomalies were tabulated on the basis of the original sonogram. P erinatal follow-up and/or karyotype were available in 52 cases from a review of the maternal and newborn medical records and pathology repor ts. Of the 52 fetuses with sonographically detected anomalies of the u pper extremities, 44 (85%) were non-survivors and eight (15%) were sur vivors. Forty-three fetuses had associated sonographic abnormalities. Karyotyping performed in 44 cases revealed 26 cases (59%) of aneuploid y, with trisomy 18 accounting for 23/26 (88%). Tn the setting of a nor mal karyotype, a variety of genetic disorders were found, including sy ndromes involving the fetal dyskinesia/akinesia sequence. Disturbances in amniotic fluid occurred in 48% of the cases (24 fetuses with polyh ydramnios and one with oligohydramnios). In conclusion, the sonographi c detection of postural abnormalities of the tipper extremities carrie s a guarded prognosis, with survival in 15% of fetuses and a high inci dence of chromosomal defects.