Related Experiment Video
Updated: Jun 8, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Screening for Down's syndrome and neural tube defect in Croatia. A regional prospective study
B Brajenović-Milić1, D Tislarić, J Bacić
1Department of Biology, School of Medicine, University of Rijeka, Rijeka, Croatia. Bojana Brajenovic-Milic@mamed.medri.hr
Objective:
The purpose of this study was to investigate the efficiency of second-trimester maternal serum screening for Down's syndrome and open neural tube defects using alpha-fetoprotein and free beta-human chorionic gonadotropin as serum markers.
Methods:
3, 188 women underwent testing between 14th and 22nd week of pregnancy. Of all tested patients, 25.4% were >/=35 years old. A cut-off risk of >/=1:250 for Down's syndrome and MS-AFP >/=2.0 MoM for open neural tube defect were considered screen-positive.
Results:
The detection rate for Down's syndrome was 77.8% (7/9) with 8.2% screen-positive rate (7.9% false-positive rate). When evaluated separately, in patients younger than 35 and in those >/=35 years old, the screen-positive rates were 3.1 and 23.3%, respectively. A total of 52 (1.6%) were found screen-positive for open neural tube defect; 2 cases of encephalocela and 1 case of gastroschisis were confirmed prenatally.
Conclusion:
The respectable number of cases with trisomy 21 identified in this study confirms that routine mid-trimester screening for Down's syndrome including MS-AFP, free beta-hCG and maternal age is useful in identifying pregnancies at increased risk.
