First trimester PRISCA screening for Down’s syndrome and Edwards’ syndrome in unselected pregnancies – report of a 6-year experience
Medical review (Med. pregled), 2023, 59(1), 31-34.
B. Ilkovska1, B. Kotevska-Trifunova2, P. Avramovski3
1 Department of Laboratory Medicine, PHO Clinical Hospital Dr. Trifun Panovski, Bitola, North Macedonia
2 Department of Dematovenerology, Аcibadem City Clinic UMHAT Tokuda, Sofia, Bulgaria
3 Department of Internal Medicine, PHO Clinical Hospital Dr. Trifun Panovski, Bitola, North Macedonia
Abstract. Introduction: Screening for chromosomal abnormalities performed in the first trimester of pregnancy, including maternal age, fetal nuchal translucency thickness, and serum markers, without beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A, is an effective screening for early detection of trisomies 18 and 21. The aim of this study was to evaluate the performance of the first trimester combined test for Down’s syndrome and Edwards’ syndrome detection, also the aim of this study is to show the prevalence of chromosomal abnormalities in pregnant women in the first trimester of pregnancy in the second largest city with 100,000 inhabitants in North Macedonia. Materials and methods: This was a retrospective case-matched study involving pregnant women who were examined in the Department of Obstetrics and Gynecology at the Clinical Hospital Bitola, between January 2016 to December 2021. Results: The participants comprised 2975 women who participated in the screening voluntarily, mostly Caucasian (97.8%) with singleton pregnancies. Among them, there were 165 cases of trisomy 21 and 50 cases of trisomy 18. The mean gestational age, maternal age, and maternal weight were 86 days, 28 years and 67 kg, respectively. There were 257 (9%) women >35 years of age and 54 (2%) women with multiple gestations – twins. The detection rates for trisomy 21 and trisomy 18 were 8% and 1%, respectively. Conclusion: First trimester screening for aneuploidy is a valuable tool for the obstetrician and indications and methods of screening have evolved over the last quarter century. The main goal of screening in the first trimester is the early detection of chromosomal anomalies which gives the opportunity to remove them in a timely manner.
Key words: screening, Down syndrome, Edwards’ syndrome, aneuploidy, PAPP-A, free β-hCG
Address for correspondence: Dr Biljana Ilkovska, MD, PhD, St. Dimce Lahcanski №29 7000 Bitola, North Macedonia Tel.+38971361262, e-mail: drbiljanailkovska@yahoo.com