Ana P. Lourenco MD, Presenter: Nothing to Disclose

Gail S. Birch, Abstract Co-Author: Nothing to Disclose

Deborah Levine MD, Abstract Co-Author: Consultant, SafeMed Inc, San Diego, CA

To perform a QA review of prenatal imaging in 114 consecutive cases of cytogenetically proven chromosomal anomalies identified by CVS or amniocentesis from 2003-2006.

114 consecutive cases with aneuploidy identified by CVS or amniocentesis with 224 prenatal sonograms at our institution were reviewed. Maternal age ranged from 20 to 45 (mean 37) years. Ten cases were twin pregnancies. Gestational age was 5–33 (mean 15) weeks. Aneuploidies included trisomy 21 (N=56), trisomy 18 (N=16), trisomy 13 (N=7), 45XO (N=6), Robertsonian translocations (N=22), placental-only mosaicism (N=4), and miscellaneous (N=3). Findings identified prospectively and retrospectively, along with any other QA issues that arose during the review process were tallied. When available (N=16), fetal pathology was the reference standard. QA issues were classified as major or minor.

Prospectively identified findings included: nuchal thickening, cystic hygroma, lymphangectasia, cardiac abnormalities, size/date discrepancy, choroid plexus cysts, short femur, hypoplasia of 5th digit middle phalanx, ventriculomegaly, wide iliac angle, echogenic bowel, double bubble, omphalocele, clenched hands, clubfeet, micrognathia, strawberry skull, agenesis of the corpus callosum, 2 vessel umbilical cord, polydactyly, cleft lip, umbilical cord cyst, hydronephrosis, pleural effusion, ascites, and oligohydramnios. Major and minor QA issues (N=20) included errors in measurement and reporting of nuchal translucency, not reporting abnormal position of upper extremities, not mentioning short femur, not appropriately identifying size/dates discrepancies, describing 9.7 mm ventricles as prominent instead of ventriculomegaly, not reporting a possible omphalocele, not mentioning a strawberry shaped skull, cardiac abnormalities suspected based on static images reviewed but not mentioned in report and a cytogenetics report that did not specify which twin was abnormal.   

QA review of prenatal imaging in proven chromosomal anomalies highlighted findings which were missed prospectively, and also allowed review of classic imaging findings in aneuploidies.

QA review of prenatal imaging in proven chromosomal abnormalities highlighted missed findings as well as classic findings of aneuploidy.

Lourenco, A, Birch, G, Levine, D, Four Year Quality Assurance Review of Prenatally Diagnosed Chromosomal Abnormalities.  Radiological Society of North America 2008 Scientific Assembly and Annual Meeting, February 18 - February 20, 2008 ,Chicago IL. http://archive.rsna.org/2008/6011747.html