engleski

First- and second-trimester prenatal screening of fetal aneuploidies in Croatia: Our experience in conformity with clinical practice and pregnant women's attitudes

We present the results of a single Laboratory, in which the first- and second-trimester screening of fetal aneuploidies has been available. Second trimester biochemical screening, using maternal serum alpha-fetoprotein (MS-AFP) and free β-subunit of human chorionic gonadotropin (free β-hCG) has been performed from November 1996. Our previous study illustrated the first 10-years' of second-trimester screening performance in a population of 11, 292 of pregnant women, with mean maternal age at term 31.6+/-4.8 years. Detection rate (DR) for trisomy 21 was 75% (21/28), with an overall false positive rate (FPR) of 10.8%. DR of trisomy 18 was 50% (2/4). On the basis of cut-off MS-AFP MoM≥2.5, 11 cases of neural tube and ventral wall defects were detected. In addition, in pregnant women under risk ≥1:250, we found 20 cases with other chromosomal anomalies. In the year 2006, first-trimester screening, combining nuchal translucency (NT), pregnancy associated plasma protein-A (PAPP-A) and free β-hCG, was introduced as a part of routine antenatal care. Till the end of 2011, combined test was performed in 10, 760 of pregnant women, with mean age of 31.9+/-4.5 years at sampling date. Using the combined risk 1:300 as cut-off value, estimated FPR for the whole population was 4.1%. DR for trisomy 21 was 86.9% (20/23) and 92.3% for trisomies 18+13 (12/13). By now, a total of 19 gynecologists attended a training course for the first-trimester ultrasound screening, organized under auspices of the Fetal Medicine Foundation ; three of them achieved the certificate of competence for measurement of NT, nasal bone (NB), fronto-maxillary facial angle, ductus venosus flow and tricuspid regurgitation. In Croatia, the Croatian Institute for Health Insurance has covered the costs referring second-trimester biochemical screening for all women, while the combined tests are performed on women’s own expense. Although the pregnancy care system differs within particular Croatian regions, there is a progressive trend in number of women undergoing first-trimester combined screening. The survey conducted in Croatian pregnant women showed that the majority of women (73%) would prefer the first-trimester combined screening test over the second-trimester biochemical screening. We also showed that the age, level of education and previous knowledge were significant variables predictive for the choice of the test.

First- and second- trimester prenatal screening; Down syndrome

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