Sonographic findings in trisomy 9.
OBJECTIVE
The purpose of this study was to identify the most common prenatal sonographic findings in fetuses with complete trisomy 9.


METHODS
A retrospective review of all cases of trisomy 9 at 5 participating institutions over a 15-year interval was conducted. Indications for referral and sonographic findings in each case were reviewed to identify characteristic fetal structural anomalies.


RESULTS
Six cases of trisomy 9 are presented. Most patients were referred for abnormal sonographic findings on screening examinations (66%) or advanced maternal age (33%). Fetal heart defects and central nervous system malformations were the most frequent sonographic anomalies seen.


CONCLUSIONS
Sonographic findings in trisomy 9 are similar to those found in other autosomal trisomies. Because trisomy 9 is uniformly lethal and is not included as part of the standard prenatal aneuploidy screening by fluorescence in situ hybridization analysis, clinicians should be cautious in counseling patients with structurally abnormal fetuses until the full karyotype is available.
Schwendemann
Wade D
WD
Department of Maternal-Fetal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. schwendemann.wade@mayo.edu
Contag
Stephen A
SA
Wax
Joseph R
JR
Miller
Richard C
RC
Polzin
William J
WJ
Koty
Patrick P
PP
Watson
William J
WJ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D006801:Humans; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014314:Trisomy; D016216:Ultrasonography, Prenatal / Q000379:methods*