Preimplantation genetic testing might not be the necessity for male patients with 47,XYY syndrome: A pilot study

TL;DR

This study suggests that preimplantation genetic testing may not be necessary for men with 47,XYY syndrome undergoing fertility treatments.

Contribution

The study challenges the routine use of PGT for 47,XYY males by showing similar outcomes with conventional IVF/ICSI.

Findings

PGT showed a low chance of sex chromosome abnormalities in 47,XYY patients.

Pregnancy and neonatal outcomes were comparable between PGT-ET and conventional IVF/ICSI-ET cycles.

No significant differences in live birth rates or congenital anomalies were observed between the two methods.

Abstract

This pilot study aimed to explore the necessity for 47,XYY syndrome males (couples) to perform PGT rather than conventional In Vitro Fertilization (IVF)/Intracytoplasmic Sperm Injection (ICSI) cycles.

A retrospective cohort study was conducted with 36 nonmosaic and mosaic 47,XYY syndrome patients (couples) undergoing 43 oocyte retrieval cycles (37 planned for PGT and 6 for IVF/ICSI) between December 2017 and December 2023. The couples were given either next‐generation sequencing‐based PGT or conventional IVF/ICSI followed by 45 embryo transfer (ET) cycles (38 from PGT and 7 from IVF/ICSI). The detailed cytogenetic results of the 129 embryos from PGT were analyzed, and the pregnancy and neonatal outcomes between PGT‐ET and conventional IVF/ICSI‐ET cycles were compared.

The PGT results showed that the chance of sex chromosome abnormalities was low (1.55%), with chromosomal errors being observed more often in autosomes. Importantly, no differences were observed in the rates of biochemical pregnancy, implantation, clinical pregnancy, ongoing pregnancy, pregnancy loss, live birth, and preterm delivery between PGT‐ET cycles and conventional IVF/ICSI‐ET cycles. Comparable results regarding gestational age, birthweight, low birthweight rate, macrosomia rate, male rate, as well as the rate of congenital anomalies were also observed between the two groups.

Preimplantation genetic testing might not be necessary to conduct for 47,XYY syndrome males unless there are other indications. Studies with large populations are in demand to confirm the present results.

Preimplantation genetic testing (PGT) results showed that the chance of sex chromosome abnormalities was low in 47,XYY patients (couples). Comparable pregnancy and newborn results were observed between PGT‐ET cycles and conventional IVF/ICSI‐ET cycles of 47,XYY patients (couples). Therefore, PGT might not need to be conducted for 47,XYY syndrome males unless there are other indications.

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