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- Title
OP05.08: Role of chromosomal microarrays analysis in identifying pathogenetic variants in fetuses with single or multiple ultrasound abnormalities.
- Authors
Azzaretto, V.; Vitucci, A.; Cavalli, C.; Izzi, C.; Signorelli, M.; Prefumo, F.; Fichera, A.; Dordoni, C.; Zanatta, V.; Grati, F.; Sartori, E.
- Abstract
Chromosomal microarray analysis (CMA) allows the identification of pathogenic deletions and duplications smaller than 5-10 million base pairs of DNA (copy number variations, CNV) not detectable by conventional karyotype examination. Among fetuses with single anomaly (n = 70) we found 11 abnormal karyotypes, 2 pCNV and 8 VOUS; fetuses with increased NT (n = 29) had karyotype abnormalities in 8 cases, 1 IF, 1 VOUS, 1 case with 1 IF associated with 1 VOUS; in 20 fetuses with multiple anomalies we detected 11 pathological karyotypes, 5 pCNV, 1 IF, 3 VOUS; in 2 cases of eIUGR we found 1 VOUS.
- Subjects
FETUS; HUMAN abnormalities; FETAL development; BASE pairs
- Publication
Ultrasound in Obstetrics & Gynecology, 2019, Vol 54, p100
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.20695