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Antenatal detection of mosaic trisomy 9 by ultrasound : a case report and literature review (CROSBI ID 101390)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Stipoljev, Feodora ; Kos, Milan ; Mišković, Berivoj ; Matijević, Ratko ; Hafner, Tomislav ; Kurjak, Asim Antenatal detection of mosaic trisomy 9 by ultrasound : a case report and literature review // Journal of maternal-fetal and neonatal medicine, 14 (2003), 1; 65-69. doi: 10.1080/jmf.14.1.65.69

Podaci o odgovornosti

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

engleski

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

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.

trisomy 9 ; mosaicism ; antenatal diagnosis ; ultrasound

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Podaci o izdanju

14 (1)

2003.

65-69

objavljeno

1476-7058

1476-4954

10.1080/jmf.14.1.65.69

Povezanost rada

Kliničke medicinske znanosti

Poveznice
Indeksiranost