Paper

Ultrasonographic Findings of Fetal Aneuploidies in the Second Trimester - Our Experiences
Csaba Papp, Zsanett Szigeti, Ern Tóth-Pál, Júlia Hajdú, József Gábor Joó, Zoltán Papp

First Department of Obstetrics and Gynecology, Semmelweis University, Faculty of Medicine, Budapest, Hungary

Address of Corresponding Author

Fetal Diagn Ther 2008;23:105-113 (DOI: 10.1159/000111588)

  Key Words

• Fetal aneuploidies
• Prenatal diagnosis
• Sonography

  Abstract

Objectives: The aim of this study was to determine the incidence of ultrasound findings in common fetal chromosomal defects on a relatively large series coming out from one institution. We also tried to evaluate possible clusters of ultrasound signs of major chromosomal defects. Methods: Of the 22,150 fetal karyotypings, 514 abnormal karyotypes (2.3%) were diagnosed prenatally between 1990 and 2004. Of them, 374 were further evaluated for abnormal ultrasound signs in this study. These represented the major chromosomal defects of Down syndrome (n = 207), trisomy 18 (n = 70), trisomy 13 (n = 28) and Turner syndrome (n = 69). Results: The incidences of major structural defects and minor anomalies were evaluated then sonographic signs with the highest incidences were established in each of the major chromosomal defects. In fetuses with trisomy 13, besides cardiac defects, the most frequently seen structural abnormalities were central nervous system anomalies and facial anomalies. In fetuses with trisomy 18 and trisomy 21, cardiac anomalies were the most common structural sonographic features, whereas the most common findings were hygroma colli and fetal hydrops in fetuses with Turner syndrome. As far as minor anomalies are concerned, increased nuchal fold was the most predictive marker of each major aneuploidy. Choroid plexus cysts were more common in trisomy 18, whereas echogenic intracardiac foci were more frequently detected in fetuses with trisomy 13 and trisomy 21. Conclusion: This study may help to select the most predictive components of the genetic sonogram which may assist the counseling of women for the actual risk of the major chromosomal abnormalities.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Csaba Papp, MD, PhD
First Department of Obstetrics and Gynecology
Semmelweis University, Faculty of Medicine
Baross u. 27, HU-1088 Budapest (Hungary)
Tel. +36 1 317 6178, Fax +36 1 317 6174, E-Mail papp@noi1.sote.hu

  Article Information

Received: August 8, 2006
Accepted after revision: October 30, 2006
Published online: November 23, 2007
Number of Print Pages : 9
Number of Figures : 0, Number of Tables : 3, Number of References : 28