A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening

Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated major minor malformations can be screened by antenatal scan first- second-trimester biochemical screening. We describe a case risk trisomy on NIPT, but without any abnormalities scan. As recommended, follow-up invasive of amniotic fluid microarray detected microduplication chromosome 13, which been congenital microcoria. This demonstrates sensitivity clinical NIPT in detecting rare copy number variations, assist families making informed reproductive decisions. also emphasizes that all screen positive cases should confirmed an appropriate diagnostic test method.