Naslov
Antenatal detection of mosaic trisomy 9 by ultrasound : a case report and literature review

Autori
Stipoljev, Feodora ; Kos, Milan ; Mišković, Berivoj ; Matijević, Ratko ; Hafner, Tomislav ; Kurjak, Asim

Izvornik
Journal of maternal-fetal & neonatal medicine (1476-7058) 14 (2003), 1; 65-69

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
trisomy 9 ; mosaicism ; antenatal diagnosis ; ultrasound

Sažetak
This paper presents a fetus with mosaic trisomy 9 diagnosed by CVS and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the MEDLINE database in the period from 1973 to 2002. We found 12 non-mosaic and 13 mosaic cases, including our case. The most frequent ultrasound abnormalities included characteristic cardiac, skeletal, craniofacial and central nervous system malformations. IUGR and SUA were prevalent non specific findings in both non- mosaic and mosaic groups.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA