Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare, lethal, autosomal recessive neurodegenerative disease and leads to progressive impairment of movement and cognition. A couple with a proband child with calcium-independent group VI phospholipase A2 (PLA2G6)-associated INAD and a previous affected pregnancy sought pre-implantation genetic diagnosis (PGD) to bear a healthy child. Intracytoplasmic sperm injection treatment was performed and 15 blastocystic embryos were obtained at days 5 and 6, and these biopsies were amplified. PGD was performed by next-generation sequencing-based linkage analysis in conjunction with aneuploidy screening. Only two embryos were considered for transfer. In the second frozen-thawed embryo transfer cycle, transfer of a mosaic PLA2G6 c.692G>T heterozygous embryo resulted in a singleton ongoing pregnancy. Prenatal diagnosis was performed using amniotic fluid cells, providing results consistent with those of PGD. The aneuploidy screen and karyotype analysis indicated that the chromosomes of the fetus were normal without any mosaicism. The present study reported the first successful PGD for INAD. For parents at risk, this strategy may successfully lead to pregnancies with embryos unlikely to develop INAD, thus providing valuable experience in reproductive management regarding INAD and potentially other single-gene disorders.

Micro-TESE surgery combined with ICSI regimen in the treatment of non-obstructive azoospermia patients and its effect analysis

“…The biochemical pregnancy was confirmed if the serum hCG value was ≥25 IU/l after 2 weeks; the clinical pregnancy was confirmed with a sign of the presence of a gestational sac by transvaginal ultrasonography after 28-30 days. The detailed process of embryo warming in this study was described in our previously published literature (Hao et al, 2020;Li et al, 2021).…”