[Ultrasound screening program for chromosomal abnormalities--the first 2000 women].
BACKGROUND
Screening for chromosomal abnormalities identifies the group of women at higher risk for having a fetus with chromosomal abnormalities and the need for fetal karyotyping. In order to provide high quality screening, strict criteria Jbo certification of operators are introduced, issued by the Fetal Medicine Foundation (FMF), which enables annual external control of results. The aim of this study was to review the results of five-year prenatal screening for chromosomal abnormalities in Novi Sad, Serbia.


METHODS
Ultrasound screening at 11-15 weeks gestation was performed, assessing fetal morphology, crownr-rump length and nuchal translucency (NT) according to the FMF guidelines. Risk for chromosomal abnormalities included the initial risk, based on maternal age, gestational age and anamnestic data, and corrected risk, which took into account the initial risk and the value of the nuchal translucency. The corrected risk was issued by the computer program issued by the FMF.


RESULTS
During the period 1999-2004, 4580 pregnant women were scanned. The risk for chromosomal abnormality was calculated using the FMF program in 2245 cases and the outcome was known in 1406 cases. The majority ojf women were between 25 and 29 years of age (37%), and 12% were older than 35 years. NT was below the median in 43% of cases and above in 57%, 3.7% of cases were above the 95th centile. 89% of women iwere younger than 35, and the risk was reduced in 97% of cases. There were three false negative cases. In 3% of women from this group the risk was increased, out cf which there were five cases of trisomy 21 and two terminations were done due to major anomalies. In the group of women over 35 years, the risk was reduced in 95% of cases and in all of them but two the karyotype was normal. In one of the two cases there was a large omphalocele and the karyotype was trisomy 18, and in the other fetus appeared normal, but after amniocentesis due to maternal anxiety, karyotype was 47, XYY. In 5% of women at higher risk there was one trisomy 21, bilateral multicystic kidneys were fund in one case as well as one hydrocephalus.


CONCLUSIONS
Combined screening by maternal age and nuchal translucency is superior to screening by maternal age only--(sensitivity 66% vs. 20%, false postive results 3% vs. 15%, area under ROC 0.90 vs. 0.69).
Novakov-Mikić
Aleksandra
A
Klinika za ginekologiju i akugerstvo, Institut za kardiovaskularne bolesti, Sremska Kamenica.
Potić
Zoran
Z
Pjević
Aleksandra
A
D000328:Adult; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis; D016216:Ultrasonography, Prenatal