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Second-Trimester Sonographic Findings in Trisomy 22

Report of 3 Cases and Review of the Literature

Fetal Medicine Center (W.S., C.S.) and Cytogenetics Laboratory (C.B.), Clinica Las Condes, Santiago, Chile; Fetal Medicine Unit, San Jose Hospital, University of Santiago de Chile, Santiago, Chile (W.S.); and Centre for Fetal Care, Queen Charlotte’s and Chelsea Hospital, Imperial College London, Hammersmith Campus, London, England (W.S., M.R., R.W.).

Address correspondence and reprint requests to Waldo Sepulveda, MD, Fetal Medicine Center, Clinica Las Condes, Casilla 208, Santiago 20, Chile. E-mail waldosep{at}hotmail.com.

Objective. To describe cases of trisomy 22 detected prenatally on second-trimester sonography and to review the literature on similar cases, with special emphasis on the prenatal findings and pregnancy outcome. Methods. We performed follow-up second-trimester sonography and fetal karyotyping on 3 pregnant women who were referred because of abnormal findings on initial second-trimester scans. We also conducted a literature search for other reports of sonographic findings in trisomy 22. Results. Fetal abnormalities shown on sonography included nuchal thickening, mild generalized skin edema, an atrioventricular septal defect, an interventricular septal defect, edema of the scalp, face, and neck, severe left pleural effusion with a marked mediastinal shift, ascites, agenesis of the diaphragm, ambiguous genitalia, a single umbilical artery, bradycardia, a multicystic left kidney, and an absent right kidney. All 3 fetuses had karyotypes indicating trisomy 22. One pregnancy was terminated at the parents’ request, and 2 ended in fetal death at 23 and 26 weeks. Our literature search revealed only 1 previous report of second-trimester sonographic diagnosis of trisomy 22. We found 3 other reports describing prenatal diagnosis in the third trimester, but only limited information on the sonographic findings was available. Conclusions. Second-trimester sonography provides valuable clues for the prenatal diagnosis of several chromosomal disorders, including trisomy 22. Prenatal karyotyping is warranted if fetal growth restriction is detected in the second trimester, especially if associated with congenital defects.

Key Words: fetal anomalies • prenatal diagnosis • prenatal sonography • trisomy 22

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				R. Stressig, S. Kortge-Jung, G. Hickmann, and P. Kozlowski Prenatal Sonographic Findings in Trisomy 22: Five Case Reports and Review of the Literature J. Ultrasound Med., November 1, 2005; 24(11): 1547 - 1553. [Abstract] [Full Text] [PDF]