Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making

Abstract

The majority (88/134; 65.7%) of patients in our cohort declined prenatal diagnosis even in the presence of associated ultrasound findings. Comprehensive pretest and posttest counseling is recommended and should address the importance of confirmatory testing and benefits of early diagnosis. Practice guidelines are needed to address provider responsibilities about postnatal testing.

A comment on “clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision‐making”

“…All these findings highlight the critical need for comprehensive pretest and posttest counseling provided by a multidisciplinary team having specific knowledge about the detailed features of each syndrome, as suggested by multiple studies . Medical geneticist have a central role not only for counseling about prenatal diagnosis but also for postnatal follow‐up.…”

“…Ramdaney, Hoskovec, Harkenrider, Soto, and Murphy carried out a retrospective cohort study of 136 pregnant women with a noninvasive prenatal testing (NIPT) positive result for sex chromosome aneuploidies (SCAs) concluding that only a minority of them elected to pursue a prenatal diagnosis for NIPT confirmation.…”

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

“…Posttest genetic counseling should inform that NIPT is not diagnostic. Additionally, since several screening tools are currently available commercially, each measure varies in positive predictive value (PPV) with an overall PPV for SCAs of approximately 50% . The specificity and sensitivity of NIPT are not uniform for all chromosomal aneuploidies; therefore, confirmatory testing with either CVS or amniocentesis is recommended, and the risks of those procedures should be reviewed with the family.…”

PREFACE: In silico pipeline for accurate cell‐free fetal DNA fraction prediction

“…Gonosomal aberrations are theoretically exposed during NIPT in a similar way as any other aneuploidy. Nevertheless, the specificity is reported to be much lower in comparison with traditional screening of chromosomes 13, 18, and 21, especially for monosomy X . Ethical issues on reporting these sometimes nonsevere abnormalities aside, the incorporation of FF in statistical outcome—which is generally not done with, eg, the popular z ‐score approach—does improve performance .…”

“…Nevertheless, the specificity is reported to be much lower in comparison with traditional screening of chromosomes 13, 18, and 21, especially for monosomy X. [39][40][41] Ethical issues on reporting these sometimes nonsevere abnormalities aside, the incorporation of FF in statistical outcome-which is generally not done with, eg, the popular z-score approach-does improve performance. 42,43 Indeed, our study was concluded by revealing that 0.71% of all NIPT samples significantly differed from the healthy gonosomal trend; however, when evaluating these outliers in relation to predicted FF, only a few truly met the requirements to suffice as being potentially sex aneuploid.…”