Prenatal screening tests for early detection of chromosomopathies

Abstract

Introduction: prenatal screening tests of the first and second trimesters allow screening for common congenital anomalies (trisomy 21, 18 and 13) in pregnant women. Objective: to describe the usefulness of prenatal screening tests in the first and second trimesters for the early detection of chromosomopathies. Methodology: a systematic, descriptive, non-participatory, and non-observational review was conducted using scientific databases and records. PRISMA guidelines and the PICO approach were followed. We selected ten original articles and relevant reviews in English published in the last five years. Results: we reviewed ten original articles on chromosomal screening tests in the first and second trimesters, including noninvasive prenatal screening tests (NIPS). In the first trimester, 57% reported PAPP-A values greater than 0.5 MoM as normal, while 25% showed outliers of free β-hCG in maternal serum (>1.5 MoM). In the second quarter, 25% highlighted the efficiency of marker combinations. 67% of non-invasive antenatal screening tests focused on screening for common trisomies and 33% on sexual aneuploidies and other chromosomal diseases. Conclusion: the health staff and especially the Clinical Laboratory area participates in informing patients about the advantages and disadvantages that each of the tests provides; and promote prenatal care from conception.