Prenatal scgeening of structural and chromosomal defects with ultrasound and biochemical markers

Objectiv: To show our experience on detection of structural and chromosomal defects with ultrasound and biochemical markers on patients with risk pregnancy. Materials and methods: A retrospective analysis on prenatal screening tests of patients with risk pregnancy has been made. Our hospital obtain certificate from FMF – London UK, for prenatal screening of chromosomal defects before six years. We made ultrasound marker NT between 11+0 and 13+6 Gestational Weeks, combinated by biochemical marker, b-HCG and AFP between 15 and 16 G. Weeks. Examination were performed on Siemens-Versa-Pro ultrasound machine by transabdominal sound and all data were saved in PIA-Fetal Data Base. Biochemical analyses were performed in our laboratory. Results: We examinated 485 patients. Half of these patients perform high risk pregnancy and the other half perform the same results as a control group. On high risk pregnancy group, we found 37 (7.6%) cases with increase of NT. In 26 (70.2%) cases from them, we found disagree from normal biochemical parameters. 112 (23%) of patients were over 35 years old, 64 (13,2%) were with 3 or more spontaneously or missed miscarriage, 18 (3,7%) were with previous history of chromosomal defect, 6 (1,3%) were with diabetes and 42 (8,6%) of cases were by mothers smokers. Risk of chromosomal aberrations, 1: 300 and more, (calculation risk software for chromosomal defects) were founded in 19 (3,9%) of cases. Only on 91% of them, were analyzed samples of amniotic fluid by amniocentesis. From kariotipizied samples were identified 5 cases with Trisomy, 21,3 cases with Trisomy 18 and 7 with Turner SY. Conclusion: First trimester NT measurement combinated by biochemical markers in second trimester are anefective screening test for early prenatal detection of fetuses with structural and chromosomal abnormallies. Combination with analyses of samples amniotic fluid and kariotipization in suspect cases, we prevent more than 97% form chromosomal aberrations.