We have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 18. Out of the 22,150 fetal chromosomal-analyses, 70 fetuses were found to have trisomy 18, between 1990-2004. Ultrasonographic findings of this aneuploidy are analysed. The average maternal age was 32.4 years, the average gestational period was 19.5 weeks. Major anomalies were found in 61 (87.1%) cases. Among them cardiac anomalies were the most frequent (47.1%) with a 27.1% rate of ventricular septal defects. Anomalies of the central nervous system were seen in 35.7% of the cases. Abnormal head shape was the most frequently detected anomaly in this group (12.9%). Fifty-six fetuses (80%) out of the seventy had at least one minor anomaly. Choroidal plexus cyst (CPC) was the most common finding (38.6%). Increased nuchal fold thickness was detected in 17.1% of the fetuses with trisomy 18. In the second trimester, vast majority of the fetuses with trisomy 18 have sonographically detectable abnormalities. Both the 87.1% frequency of major anomalies and the 80% frequency of minor anomalies are substantially higher than a multiple biochemical marker test could reach, so far. It has also been demonstrated, that fetal echocardiography plays a pivotal role in the diagnosis of trisomy 18.
|Translated title of the contribution||The role of ultrasonography in the prenatal diagnosis of trisomy 18, experiences with 70 cases|
|Number of pages||7|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Nov 17 2006|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology