Society for Maternal-Fetal Medicine

View all recommendations from this society

March 10, 2021

Don’t perform routine cell-free DNA screening for microdeletions.

Cell-free DNA screening for the common aneuploidies is associated with a high detection rate and low false-positive rate. This screening test is also now offered for a small number of microdeletion syndromes. Most of these microdeletions are extremely rare. Given the very low prevalence of these conditions, most positive test results will be false positives, and the positive predictive value of the test is very low. Moreover, data are lacking for the performance of microdeletion screening, which can add substantially to the costs of this test.


These items are provided solely for informational purposes and are not intended as a substitute for consultation with a medical professional. Patients with any specific questions about the items on this list or their individual situation should consult their physician.

How The List Was Created

As a national medical specialty society, the Society for Maternal-Fetal Medicine relies on the input of any number of its committees in the development of various documents. In the case of the items included in this list, the Publications Committee reviewed the literature and evidence from SMFM’s published documents for possible topics. For SMFM’s first set of five recommendations a sub-group of the Committee initially developed a list of 10 items that the Committee then ranked for the top five with input and suggestions by the Society’s Executive Committee. For SMFM’s second set of recommendations, the sub-group of the Committee developed a list of 12 items that the Committee then ranked for the top five, again soliciting input and suggestions by the Society’s Executive Committee. For SMFM’s third set of five recommendations, the sub-group of the Publications Committee developed a list of 10 items that the Committee ranked for the top five, again soliciting input and suggestions by the Society’s Executive Committee. The final lists have been reviewed and approved by the Society’s Document Review Committee and Executive Committee.

SMFM’s disclosure and conflict of interest policy can be found at www.smfm.org

Sources

Rose NC, Kaimal AJ, Dugoff L, et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol 2020;136(4):e48-e69.

Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol 2017 Dec;217(6):691.e1-691.e6.