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Conclusions

NIPT that employs cfDNA is not considered diagnostic at this time. Women having a positive NIPT result should be offered conventional invasive diagnostic testing such as CVS or amniocentesis for confirmation. With an abnormal ultrasound finding that suggests an increased risk of aneuploidy, clinicians may also recommend that a patient forego conventional diagnostic testing and use the NIPT to provide a second piece of evidence of the abnormality.