Do not perform prenatal testing that can be performed on circulating fetal free fetal DNA (cfDNA) by non-invasive prenatal testing (NIPT) without first informing women about the limitations and accuracy of the different prenatal investigations that can be performed
Non-invasive prenatal testing (NIPT) is one of the most popular approaches in prenatal diagnosis today and its use is constantly increasing. Considering that the insertion of the technique on free circulating fetal DNA (cfDNA) in clinical practice is relatively recent, scientific evidence allows to attribute high sensitivity and specificity to the test for the study of the main aneuploidies (13,18,21,X,Y). On the other hand, there are lesser data, although growing, for the study of rare aneuploidies, which are analyzed by many laboratories, while there is currently no evidence considered sufficient for other applications (study of microdeletions/microduplications, large genomic imbalances and pathogenetic variants in disease genes); in addition, the use for these reasons not supported by sufficient scientific results leads to an increase in the use of invasive prenatal diagnoses that risk being unjustified.
Good practice: considering the need to provide correct information about the possibilities and limitations of different types of prenatal tests on cfDNA, it is essential that these are offered as part of a pre and post-test genetic counseling process during which correct and comprehensive information about the limits and accuracy of the tests is provided.
2. di Renzo GC, Bartha JL, Bilardo CM. Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications. Am J Obstet Gynecol. 2019 Jan 10. pii: S0002-9378(19)30037-7. doi: 10.1016/j.ajog.2019.01.009.
3. Shaffer BL, Norton ME. Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes. Obstet Gynecol Clin North Am. 2018 Mar;45(1):13-26. doi: 10.1016/j.ogc.2017.10.001
4. Dondorp et al, Eur J Hum Genet. 390 2015. Nov;23(11):1438-50;
5. Society for Maternal Fetal Medicine (SMFM) Publications Committee. Consult Series 392 #36 Am J Obstet Gynecol. 2015, 212(6):711-6;
6. Benn et al, International Society for Prenatal Diagnosis. Prenat Diagn. 2015 Aug;35(8):725-34.
Attention. Please note that these items are provided only for information and are not intended as a substitute for consultation with a clinician. Patients with any specific questions about the items on this list or their individual situation should consult their clinician.