PMID: 12755342May 21, 2003Paper

Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound

The Australian & New Zealand Journal of Obstetrics & Gynaecology
Art DanielBrian J Trudinger

Abstract

To design a scheme to rank sonographic anomalies as indicators of aneuploidy and record the distribution of data from 2143 prenatal amniotic fluid/chorionic villous sample diagnoses referred for karyotyping because of fetal anomalies detected with ultrasound. In all cases the records of sonographic anomalies were obtained prior to karyotyping. A cascade of seven prospective categories of ultrasound anomalies was chosen and the data were included in the highest compatible sonography category. The categories were in descending order: (I) combined central nervous system (CNS)/cranial shape and cardiac anomalies (excluding spina bifida and anencephaly); (II) key anomaly present (exomphalos/ intrauterine growth restriction/duodenal atresia/cystic hygroma/fetal hydrops/talipes--with other multiple anomalies); (III) CNS +/- other abnormality (excluding choroid plexus cyst, spina bifida, anencephaly); (IVa) increased nuchal translucency--first trimester +/- other abnormality; (IVb) increased nuchal thickening--second trimester +/- other abnormality; (V) cardiac anomaly +/- other abnormality; (VI) other markers of aneuploidy (pyelectasis/two vessel cord/echogenic bowel/short femur); and (VII) other (mostly isolated) malformations. There...Continue Reading

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Citations

Nov 12, 2013·Journal de gynécologie, obstétrique et biologie de la reproduction·L J Salomon, V Malan
Aug 29, 2014·Gynécologie, obstétrique & fertilité·S VanlieferinghenY Ville
May 20, 2017·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Shuo ZhangXiaoxi Sun
Aug 27, 2003·Prenatal Diagnosis
Jul 31, 2013·Expert Review of Molecular Diagnostics·Lisa G Shaffer, Jill A Rosenfeld
Jan 18, 2018·Fetal and Pediatric Pathology·Shagun AggarwalAshwin Dalal
Nov 17, 2011·Cytogenetic and Genome Research·K D LichtenbeltG H Schuring-Blom
Apr 23, 2021·Gynécologie, Obstétrique, Fertilité & Sénologie·M ChamagneB Renevier

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