Screening combinato del primo trimestre di gravidanza per l'individuazione delle aneuploidie fetali in donne di età superiore ai 35 anni [First trimester combined screening for fetal aneuploidy in ≥ 35 years old pregnants]

Recently: some studies (Geipel, 2007 [1]) have shown that the number of invasive tests in women of ≥35 years could be reduced, obtaining early identification of the pathological fetuses through combined screening of the first trimester. We wanted to assess if these results were the same in our population. Materials and methods: A retrospective study was conducted on women of 3 35 years undergoing combined screening between 2005 and 2007. After genetic counselling, risk was calculated considering maternal age, the NT measurement, biochemical markers. Villocentesis or amniocentesis were offered to patients with risk higher than 1:300. Finally, we considered the results of villocentesis conducted to determine the fetal karyotype in advanced maternal age during the same period. Results: We had subjected 122 pregnant women to combined screening; 15 pregnant women (12.29%) obtained a high-risk result. Through the study of fetal karyotype, two abnormal karyotypes were found, neonatal follow-up did not reveal any false negatives, except for 19 pregnant women lost to follow-up. Discussion: The combined screening therefore has been recognized 100% of aneuploidy karyotypes with a percentage of false positives equal to 10.83%. About women ≥35 years who have performed a villocentesi, in one case (2.63% of the levies made) in our experience a miscarriage occurred after twenty days. Conclusions: Screening is a technique with high sensitivity in advanced maternal age women and that significantly reduces the risk of miscarriage after invasive examinations.