Figure 2.

A workflow of prenatal screening and diagnosis of common aneuploidies and other cytogenomic abnormalities. Results from non-invasive prenatal testing (NIPT), maternal serum screening (MSS), advanced maternal age (AMA), ultrasound examination (US), and family history (FH) of chromosomal abnormalities have been used as indications to screen for pregnancies at risk. Integrated aneuvysion FISH, karyotyping, array comparative genomic hybridization (aCGH), and reflex FISH are performed to detect complete aneuploidies, mosaic aneuploidies (TFM, true fetal mosaicism versus CPM, confined placenta mosaicism and PM, pseudo-mosaicism), structural abnormalities, and pathogenic copy number variants (pCNV).