Objective: To validate indications for invasive fetal karyotyping in the era of first trimester screening and non invasive prenatal testing. Materials and Methods:We conducted single centre retrospective study between 2009 and 2014. Patients were referred for either first trimester screening or second/ third trimester ultrasound screening. We included all women with invasive testing such as chorionicvilli sampling (CVS) or amniocentesis (AC). The indications for invasive testings were related to suspicious first trimester screening results and pathologic ultrasound findings. Fetal karyotypes and pregnancy outcomes were documented. Results: A total of 724 patients had an AC (69%) or CVS (31%), either. We detected 123 pathologic karyotypes (17%), i.e. 46 trisomy 21 cases, 24 trisomy 18 cases and four trisomy 13 cases. 601 fetuses had normal karyotypes (83 %). 63 pathologic karyotypes were diagnosed by AC (52%)and 60 by CVS(48%). The main indication for CVS was a suspicious first trimester screening (44%), whereas AC indications were maternal age, suspicious ultrasound findings or genetic indications (e.g. family history). From 189(27%) normal fetal karyotypes, 115 (60%) had an invasive testing due to suspicious biochemistry results. 36 fetuses (19%) had nuchal translucency (NT) measurements above 2.5 mm and 38 patients (21%) had a combined risk elevation. 60 of these cases had cut-off risks for invasive procedures by combined testing of less than 1:50. Conclusion: Fetal karyotyping is reasonable in high risk situations such as suspicious ultrasound findings in any time of pregnancies. Suspicious biochemistry results from first trimester screening alone may be followed by non-invasive testings (NIPT), especially in high risk pregnancies after ART.
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