2015 年國際產前診斷學會發表聲明

 

• ​The following protocol options are currently considered appropriate:
  1. cfDNA screening as a primary test offered to all pregnant women.
  2. cfDNA secondary to a high risk assessment based on serum and ultrasound screening protocols
  (options 4-9 below).
  3. cf-DNA contingently offered to a broader group of women ascertained as having high or intermediate risks by conventional screening. Contingent provision of cfDNA, could also include a protocol in which women with very high risks are offered invasive prenatal diagnosis while those with intermediate risk are offered cfDNA.

• When cfDNA screening is extended to microdeletion and microduplication syndromes or rare trisomies the testing should be limited to clinically significant disorders or welldefined severe conditions. There should be defined estimates for the detection rates, false-positive rates, and information about the clinical significance of a positive test for each disorder being screened.