Embryonic aneuploidy does not differ among genetic ancestry according to continental origin as determined by ancestry informative markers

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Abstract

STUDY QUESTION

Is embryonic aneuploidy, as determined by comprehensive chromosome screening (CCS), related to genetic ancestry, as determined by ancestry informative markers (AIMs)?

SUMMARY ANSWER

In this study, when determining continental ancestry utilizing AIMs, genetic ancestry does not have an impact on embryonic aneuploidy.

WHAT IS KNOWN ALREADY

Aneuploidy is one of the best-characterized barriers to ART success and little information exists regarding ethnicity and whole chromosome aneuploidy in IVF. Classifying continental ancestry utilizing genetic profiles from a selected group of single nucleotide polymorphisms, termed AIMs, can determine ancestral origin with more accuracy than self-reported data.

STUDY DESIGN, SIZE, DURATION

This is a retrospective cohort study of patients undergoing their first cycle of IVF with CCS at a single center from 2008 to 2014. There were 2328 patients identified whom had undergone IVF/CCS and AIM genotyping.

PARTICIPANTS/MATERIALS, SETTING, METHODS

All patients underwent IVF/ICSI and CCS after trophectoderm biopsy. Patients’ serum was genotyped using 32 custom AIMs to identify continental origin. Admixture proportions were determined using Bayesian clustering algorithms. Patients were assigned to the population (European, African, East Asian or Central/South Asian) corresponding to their greatest admixture proportion.

MAIN RESULTS AND THE ROLE OF CHANCE

The mean number of embryos tested was 5.3 (range = 1–40) and the mode was 1. Patients’ ethnic classifications revealed European (n = 1698), African (n = 103), East Asian (n = 206) or Central/South Asian (n = 321). When controlling for age and BMI, aneuploidy rate did not differ by genetic ancestry (P = 0.28).

LIMITATIONS, REASONS FOR CAUTION

The study type (retrospective) and the ability to classify patients by continental rather than sub-continental origin as well as the predominantly European patient mix may impact generalizability. Post hoc power calculation revealed power to detect a 16.8% difference in embryonic aneuploidy between the two smallest sample size groups.

WIDER IMPLICATIONS OF THE FINDINGS

These data do not support differences in embryonic aneuploidy among various genetic ancestry groups in patients undergoing IVF/CCS. We used a novel approach of determining continental origin using a validated panel of AIMs as opposed to patient self-reported ethnicities. It does not appear that specific recommendations for aneuploidy screening should be made based upon continental heritage.

STUDY FUNDING/COMPETING INTEREST(S)

None.

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