Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing

Area of Science:

• Genetics
• Reproductive Medicine
• Bioinformatics

Background:

• Chromosomal rearrangements (CR) can impact reproductive success.
• Preimplantation genetic testing (PGT) aims to identify viable embryos for transfer.
• Next-generation sequencing (NGS) offers advanced methods for chromosomal analysis.

Purpose of the Study:

• To investigate chromosomal abnormalities in blastocyst trophectoderm (TE) using NGS.
• To evaluate reproductive outcomes in carriers of different chromosomal rearrangements (CR).
• To compare outcomes based on the sex of the CR carrier.

Main Methods:

• Analyzed 1189 blastocyst TE samples using NGS.
• Detected aneuploidy and unbalanced translocations.
• Compared blastocysts from CR carriers (n=637) with those from normal chromosome carriers (n=552).

Main Results:

• CR carriers showed higher rates of abnormalities, aneuploidy, and unbalanced translocations.
• Reciprocal translocation carriers had poorer outcomes than Robertsonian translocation carriers.
• Female CR carriers had significantly worse outcomes than male carriers.

Conclusions:

• PGT using NGS identifies increased chromosomal abnormalities in blastocysts from CR carriers, especially females.
• PGT cycles improved fertilization rates and reduced early spontaneous abortion.
• PGT is beneficial for improving clinical outcomes in CR carriers.