Supplementary file 1_Preimplantation genetic testing for KIT-associated pigmentary monogenic diseases.docx

We recruited three Chinese families presenting with these distinct phenotypes to identify pathogenic variants and prevent intergenerational transmission. Whole exome sequencing and Sanger sequencing identified three heterozygous KIT variants: a known missense variant (c.2485G>C) in family 1 causing hyperpigmentation and generalized lentigines, and two novel null variants (c.2736_2737insT and c.2664del) in families 2 and 3 causing piebaldism.

To assist these families, we implemented a comprehensive preimplantation genetic testing (PGT) for monogenic diseases and aneuploidies. This approach successfully identified euploid embryos free of pathogenic variants for transfer. Uniquely, in family 1, the PGT results were verified during pregnancy using non-invasive prenatal testing for monogenic diseases (NIPT-M) via maternal plasma cell-free DNA analysis, providing a non-invasive confirmatory screen and potentially reducing the need for invasive procedures.