Background: Oculocutaneous albinism type IA (OCA1) is the
most severe form of albinism, an autosomal recessive inherited deficit of the pigment
melanin causing distinctive alterations of skin, hair, and visual system. Pre-implantation genetic testing (PGT) is a
substitution for prenatal diagnosis. Methods: This study accomplished
SNP array with karyomapping for PGT of OCA1 and validated the results with
PCR-based PGT. Results: One family with a risk of having OCA1
c.819+3insATATGCC and c.896GA (p.R299H) offspring chose to go through
karyomapping PGT. Novel PCR protocols employing fluorescent PCR and
mini-sequencing were developed, tested, and applied. In the clinical PGT cycle,
two blastocyst stage embryos were subjected to PGT. Karyotyping PGT results of
OCA1 revealed both of the embryos to be normal. PCR analysis confirmed
haplotyping results. However, copy number variation (CNV) analysis exhibited an
additional chromosome 14 and segmental loss of 7q in embryo No. 1, i.e., 47,
XY,+14,-7q, and an additional chromosome 22 in embryo No. 2, i.e., 47, XY,+22.
Therefore, there was no appropriate embryo for transfer. The patient will return
for the next PGT cycle. Conclusions: Karyomapping PGT for OCA1,
including insertion c.819+3insATATGCC and point mutation c.896GA (p.R299H),
was performed alongside PCR techniques. Karyomapping gives benefits of CNV
information to avoid the transfer of chromosomally unbalanced embryos.