Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines.

Abstract

This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non-invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies. An integrative review was conducted in guidelines and consensus statements from international societies to compare recommendations regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of NIPT, invasive diagnostic procedures, and advanced genomic technologies. A systematic search was conducted in PubMed, Scopus, the Cochrane Library, and EMBASE for guidelines published up to December 2025. Guidelines from major obstetrics and genetics societies were included. Findings were synthesized and compared qualitatively across guidelines. Nine international guidelines were included in the analysis. Most societies recommend offering prenatal screening for aneuploidy to all pregnant women. NIPT was consistently described as the most sensitive screening method for common aneuploidies, although not recommended as a diagnostic test. Invasive procedures, including amniocentesis and chorionic villus sampling, remain the gold standard for diagnostic confirmation. Recommendations regarding advanced genomic testing varied, with chromosomal microarray generally recommended in cases of fetal structural anomalies, while routine prenatal exome sequencing remains limited to selected scenarios. Although international guidelines show broad agreement regarding the importance of prenatal screening and confirmatory diagnostic testing, differences persist in the implementation of screening strategies and the integration of emerging genomic technologies.