Yang Yongmedical, Jabrehoo
Dear committee members,
I have a doubt regard to the choice of PGT for genetic counseling for the HH patients.
The last sentence of the part titled as “DIAGNOSIS OF GENETIC ABNORMALITIES IN MEN WITH NOA ” says, quoted here:
“Testing affords clinicians the opportunity to counsel patients about the risks of HH in their offspring, and empowers clinicians to screen for unaffected embryos using preimplantation genetic testing for aneuploidy (PGT-A) (15).”
I reviewed the article 15 referenced here and it did not mention anything regard to PGT-A or PGS. But it stated the pathogenic mutations on several genes have proved to be genetic causes of HH, including PROK2, PROKR2, GNRH1, GNRHR1, KISS1R, TAC3, TACR3, etc.
Thus, I believe the correct PGT type here should be "preimplantation genetic testing for monogenic disorders (PGT-M)" instead of PGT-A; because some types of HH have proved to be monogenetic disorder instead of aneuploidy，e.g., trisomy or monosomy like Down Syndrome.
I think the PGT-A mentioned here should be targeting the cytogenetic abnormalities mentioned in the previous paragraph, including Robertsonian translocations, reciprocal translocations, and chromosomal inversions. This is also correctly stated in the first paragraph of "MANAGEMENT OF DETECTED GENETIC ABNORMALITIES IN MEN WITH NOA".
Overall, I think the first PGT-A mentioned in this article caused some confusions regard to fertility management and genetic counseling for HH patients.