Performance and Predictive Value of First Trimester Screening Markers for Down Syndrome in Iranian Pregnancies

Reza Heidari (1) , Mostafa Akbariqomi (1) , Elaheh Motevaseli (1) , Mir Davood Omrani (2) , Hamid Kooshki (3) , Ahmad Reza Shamshiri (1) , Shilan Shafei (1) , Moloud Absalan (1) , Mohammad Ali Mazlomi (1) , Soraya Saleh Gargari (2) , Gholamreza Tavoosidana (1)

1 TUMS - Tehran University of Medical Sciences
2 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
3 Baqiyatallah University of Medical Sciences

Objective: To investigate the performance of first trimester Down syndrome (DS) screening markers in Iranian pregnancies.Although sonographic and serum markers are currently recommended for the first trimester screening of Down syndrome, the screening performance of the markers depends on the race and ethnicity. Materials and methods: A retrospective case-control study using first trimester screening results recorded with the prenatal diagnostic multi-centers in Iran. A total of 6,384 pregnant women were examined from March 2012 to February 2017. Totally 100 Down syndrome cases and 266 matched controls were selected and the maternal characteristics, sonographic and biochemical screening data were collected. Statistical analysis was performed using logistic regression and descriptive statistics. A decision tree model was designed using the chi-squared automatic interaction detection method based on serum markers. Results: For screening of DS pregnancies, PAPP-A (cut-off 0.795 MoM) yielded the highest sensitivity (86%) and NB marker presented highest specificity (96.24%). combination of the biochemical markers PAPP-A and β-hCG (cut-off: 1.55 MoM) showed the highest sensitivity over other combined markers. The decision-tree model based on serum markers improved (91% DR For a 5% FPR) first trimester screening performance. Conclusion: The novel decision-tree model base on serum markers revealed a better predictive value to achieve high sensitivity and specificity of first trimester Down syndrome screening in Iranian population.

Mots clés: Down Syndrome; First Trimester Screening; Serum Marker; Sonographic Markers

Domaines: Gynécologie et obstétrique; Génétique humaine; Santé publique et épidémiologie

Reza Heidari, Mostafa Akbariqomi, Elaheh Motevaseli, Mir Davood Omrani, Hamid Kooshki, et al.. Performance and Predictive Value of First Trimester Screening Markers for Down Syndrome in Iranian Pregnancies. Journal of Family and Reproductive Health, 2018, 12 (3), pp.121-128. ⟨hal-02957023⟩