Application of noninvasive prenatal testing in pregnancies with fetal double bubble sign: Is it feasible?

OBJECTIVE

To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign.

METHODS

This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies.

RESULTS

Fetal trisomy 21 was detected in 8 of the 92 patients with prenatal double bubble. No other chromosomal anomalies or microscopic pathogenic copy-number variations (CNV) were found. Noninvasive prenatal testing could theoretically identified the affected pregnancies with trisomy 21 in this group with decreased number of invasive diagnostic testing.

CONCLUSIONS

Noninvasive prenatal testing could be recommended for genetic evaluation of the etiology of prenatal double bubble after thorough pretest counseling.