Amy H Picklesimer1, Kenneth J Moise, Honor M Wolfe. 1. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, The University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA. picklesimer@med.unc.edu
Abstract
OBJECTIVE: The purpose of this study was to identify the influence of gestational age on the detection of sonographic markers of aneuploidy. STUDY DESIGN: Using a retrospective chart review, cases of trisomy 13, 18, and 21 with fetal ultrasounds between 14 1/7 and 36 4/7 weeks' gestation were identified. Sonographic markers were subdivided into major abnormalities and "soft" sonographic markers: nuchal thickening > or = 5 mm, humerus or femur length <10th percentile, intracardiac echogenic focus, echogenic bowel, pyelectasis > or = 4 mm, and choroid plexus cysts. Markers were stratified by karyotype and gestational age. RESULTS: Fifteen fetuses with trisomy 13, 32 with trisomy 18, and 49 with trisomy 21 were identified. There was no difference in the prevalence of ultrasound markers by gestational age (P = .40). Soft markers were more common in the second trimester of pregnancy (P = .006) with a trend toward increased prevalence of major anomalies with advancing gestation (P = .22). CONCLUSION: Although sonographic markers change with gestational age, these markers are present throughout gestation and can provide clinically useful information to guide patient counseling.
OBJECTIVE: The purpose of this study was to identify the influence of gestational age on the detection of sonographic markers of aneuploidy. STUDY DESIGN: Using a retrospective chart review, cases of trisomy 13, 18, and 21 with fetal ultrasounds between 14 1/7 and 36 4/7 weeks' gestation were identified. Sonographic markers were subdivided into major abnormalities and "soft" sonographic markers: nuchal thickening > or = 5 mm, humerus or femur length <10th percentile, intracardiac echogenic focus, echogenic bowel, pyelectasis > or = 4 mm, and choroid plexus cysts. Markers were stratified by karyotype and gestational age. RESULTS: Fifteen fetuses with trisomy 13, 32 with trisomy 18, and 49 with trisomy 21 were identified. There was no difference in the prevalence of ultrasound markers by gestational age (P = .40). Soft markers were more common in the second trimester of pregnancy (P = .006) with a trend toward increased prevalence of major anomalies with advancing gestation (P = .22). CONCLUSION: Although sonographic markers change with gestational age, these markers are present throughout gestation and can provide clinically useful information to guide patient counseling.
Authors: Kjersti M Aagaard-Tillery; Fergal D Malone; David A Nyberg; T Flint Porter; Howard S Cuckle; Karin Fuchs; Lisa Sullivan; Christine H Comstock; George R Saade; Keith Eddleman; Susan Gross; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Diana W Bianchi; Mary E D'Alton Journal: Obstet Gynecol Date: 2009-12 Impact factor: 7.661