Prenatal Screening for Microdeletions and Rare Autosomal Aneuploidies

Fiorentino D, Dar P.. Clin Obstet Gynecol. 2023;66(3):579-594. doi:10.1097/GRF.0000000000000799

Tags: Review / Meta-Analysis, 2023, International, RAAs, CNVs

  • “Conclusion: To conclude, cfDNA is an attractive screening tool for chromosomal abnormalities that otherwise do not have dedicated screening modalities. However, the expansion of routine prenatal genetic screening to include rare syndromes has to balance patients’ desire for information about their pregnancy and the clinical utility of a screening test. Unfortunately, for many CNVs and RAAs, the clinical utility of this screening remains unclear. The principle of patient autonomy would dictate that these commercially available tests not be withheld from patients who desire greater information regarding their pregnancy, but detailed counseling is needed to ensure that the benefits and limitations of expanded cfDNA are clearly understood.”