Assessment indicates NIPT is being adopted by MFMs, largely in accord with recently published American College of Obstetricians and Gynecologists and the Society for MFM guidelines. Cost and test performance remain factors for not adopting NIPT. Further research on clinical management based on NIPT results and patient understanding of NIPT results is suggested.

We observed truncating mutations in or in the ACC and/or germline of four unrelated patients. Given how statistically improbable the concurrence of ACC and pathogenic germline mutations is expected to be, these observations raise the question whether ACC may be a rare manifestation of mutation syndromes. Further studies are needed to investigate the possible role of SDH deficiency in ACC pathogenesis.