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This study aimed to establish a practical protocol for early noninvasive prenatal testing (NIPT) for fetuses at risk of Peutz Jeghers syndrome (PJS) or familial adenomatous polyposis (FAP), two classical types of hereditary colorectal cancer syndromes, for risk evaluation and accurate life monitoring. Target enrichment was performed using hybridization probes coordinating the STK11 and APC gene regions, with 1,458 highly heterozygous SNPs included. Haplotypes were successfully constructed in the nine recruited families with different pedigree characteristics, and the results for the RHDO analysis were consistent with the amniocentesis sampling results. This is the first NIPT assay on hereditary colorectal cancer syndromes based upon RHDO analysis.
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