A 13-as triszómia praenatalis diagnosztikája: 28 Eset elemzése

Translated title of the contribution: Prenatal diagnosis of trisomy 13: A report on 28 cases

Csaba Papp, Júlia Hajdú, Artúr Beke, Zoltán Bán, Zsanett Szigeti, Erno Tóth-Pál, Ákos Csaba, József Gábor Joó, Gábor Mezei, Zoltán Papp

Research output: Contribution to journalArticle

Abstract

The authors have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 13. Out of the 22.150 fetal chromosomal-analyses, 28 fetuses with trisomy 13 have been detected, between 1990 and 2004. Ultrasonographic findings of this aneuploidy are analysed in this paper. The avarege maternal age was 32.4 years, the average gestational age was 19.5 weeks. There was an 89.3% (n=25) total prevalence of sonographically detectable anomalies in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), while minor anomalies were detected in 16 cases (57.1%). Although in two fetuses one minor anomaly was the only ultrasound sign of trisomy 13, other cases with minor anomalies (87.5%, n=14) had multiple malformations, where combinations of major and minor anomalies could be detected. The most frequently encountered structural abnormalities were those of the central nervous system (CNS) and facial anomalies (64.3%, n=18). Among the CNS malformations ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular defects were detected in 53.6% (n=15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in the diagnosis of this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. The authors conclude, that second trimester ultrasound examination is useful for detection of anomalies characteristic of trisomy 13, thus the scan could provide an indication for fetal karyotyping. Upon incorporating a careful assessment of the fetal cardiovascular system by ultrasonography, an increased detection rate for trisomy 13 would result.

Translated title of the contributionPrenatal diagnosis of trisomy 13: A report on 28 cases
Original languageHungarian
Pages (from-to)555-561
Number of pages7
JournalMagyar Noorvosok Lapja
Volume69
Issue number6
Publication statusPublished - Dec 1 2006

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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