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Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood:

Sex Chromosome Aneuploidies Hayes evaluated the clinical utility of cfDNA screening for fetal sex chromosome aneuploidy in women with singleton or multiple gestation pregnancies. The overall quality of evidence was very low. Current clinical utility studies demonstrate a wide variability in the impact of cfDNA sex chromosome aneuploidy screening in decision-making outcomes. Study limitations include varied and small patient populations with few women with abnormal cfDNA screening results for individual sex chromosome aneuploidies, conflicting results or information that limited available data, confusing results presentation and limited patient follow-up. Additional studies with large numbers of women with abnormal cfDNA sex chromosome aneuploidy screening are needed. No studies were identified evaluating cfDNA screening for sex chromosome aneuploidy in multiple gestation pregnancies (Hayes, 2017). Professional Societies American College of Medical Genetics and Genomics (ACMG) An ACMG position statement addresses the advantages and disadvantages of noninvasive prenatal screening for fetal aneuploidy and offers recommendations for pre- and post-test genetic counseling. The statement includes the following recommendations:  Provide up-to-date, balanced and accurate information early in gestation to optimize patient decision making, independent of the screening approach used.  Laboratories should work with public health officials, policymakers and private payers to make NIPT, including the pre- and post-test education and counseling, accessible to all pregnant women.  Allow patients to select diagnostic or screening approaches for the detection of fetal aneuploidy and/or genomic changes that are consistent with their personal goals and preferences.  Inform all pregnant women that diagnostic testing (CVS or amniocentesis) is an option for the detection of chromosome abnormalities and clinically significant copy-number variants.  Inform all pregnant women that NIPT is the most sensitive screening option for traditionally screened aneuploidies (i.e., Patau, Edwards, and Down syndromes).