Detection of 22q11.2 deletion syndrome by single-nucleotide polymorphism based non-invasive prenatal test

Non-invasive prenatal test (NIPT) has become a popular screening worldwide for common trisomies. In addition, the can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. recent years, scope of NIPT extended to screen pregnancies clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility beyond trisomies 21,18,13 SCAs are still being evaluated because low positive predictive value which in turn leads an increase invasive procedures. Here, we present case where SNP - correctly identified microdeletion syndrome, i.e., 22q11.2DS pregnant woman normal ultrasound findings. This finding was further confirmed microarray study FISH.