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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

Higher chromosomal abnormality rate in blastocysts from young patients with idiopathic recurrent pregnancy loss

Xin-Yan Liu¹, Qi Fan¹, Jing Wang¹

¹Guangdong Provincial Key Laboratory of Reproductive Medicine, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China.

Fertility and Sterility

|April 2, 2020

Abstract

Objective:

To determine whether the incidence of chromosomal abnormalities in blastocysts is higher in patients with idiopathic recurrent pregnancy loss (iRPL) who underwent preimplantation genetic testing for aneuploidy (PGT-A) than in those who underwent preimplantation genetic testing for monogenic defects (PGT-M).

Design:

Retrospective cohort study.

Setting:

University-affiliated reproductive center.

Patient(S):

A total of 62 patients with iRPL underwent 101 PGT-A cycles (iRPL group), and 212 patients underwent 311 PGT-M cycles (control group).

Interventions(S):

Blastocyst biopsy and comprehensive chromosome screening technologies, including single-nucleotide polymorphism microarrays and next-generation sequencing.

Main Outcome Measure(S):

Incidence of chromosomal abnormalities in blastocysts and clinical miscarriage (CM) rate.

Result(S):

Stratification analysis by maternal age showed an increased incidence of chromosomal abnormalities in the iRPL group aged ≤35 years (48.9% vs. 36.9%), whereas no significant increase was found in the iRPL group aged >35 years (66.9% vs. 61.4%). After transfer of euploid embryos, women aged ≤35 years with iRPL exhibited an increased CM rate compared with the control group (26.1% vs. 3.1%).

Conclusion(S):

Young patients with iRPL have a significantly higher rate of chromosomal abnormalities in blastocysts compared with patients with no or sporadic CM. Although euploid embryos were transferred after PGT-A, young patients with iRPL had a higher CM rate, which may indicate that chromosomal abnormalities might not be the only causal factor for iRPL. Therefore, the role of PGT-A in iRPL still needs to be clarified.

Keywords:

Recurrent pregnancy loss aneuploidy blastocyst biopsy comprehensive chromosome screening maternal age

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