Laura Melado ¹, Barbara Lawrenz ², Daniela Nogueira ^2 3, Araz Raberi ², Rachana Patel ³, Asina Bayram ², Ibrahim Elkhatib ², Human Fatemi ²

Affiliations Expand

• PMID: 37258645
• PMCID: PMC10232517
• DOI: 10.1038/s41598-023-36014-6

Abstract

Consanguineous marriage is defined as marriage between first or second-degree cousins, with high prevalence in many cultures and societies. Descendants from consanguineous unions have an increased risk for genetic diseases. Additionally, in consanguineous couples, chromosomal disjunction during embryogenesis could also be affected, increasing the risk of chromosomal errors. Nowadays, genomic testing allows to identify new genetic syndromes and variants related to copy-number variations (CNV), including whole chromosome, segmental and micro-segmental errors. This is the first study evaluating chromosomal ploidy status on blastocysts formed from consanguineous couples during IVF/ICSI treatments with Preimplantation Genetic Testing for Aneuploidies (PGT-A), compared to non-consanguineous couples. Although consanguine couples were significantly younger, no differences were observed between groups for fertilisation rate, blastulation rate and euploidy rate, once adjusted by age. Nevertheless, the number of blastocysts biopsied on day 5 was lower for consanguine couples. Segmental errors, and aneuploidies of chromosomes 13 and 14 were the most prominent abnormalities in relation to consanguinity, together with errors in chromosome 16 and sex chromosomes when the female partner was younger than 35. Once euploid blastocysts were considered for subsequent frozen embryo transfer, pregnancy outcomes were similar in both groups. The current findings point toward the fact that in consanguine unions, not only the risk of having a child with genetic disorders is increased, but also the risk of specific chromosomal abnormalities seems to be increased. Premarital counselling and tailored reproductive treatments should be offered to these couples.

© 2023. The Author(s).

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Conflict of interest statement

The authors declare no competing interests.

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References

1. 1. Bittles AH. The role and significance of consanguinity as a demographic variable. Popul. Dev. Rev. 1994;20:561. doi: 10.2307/2137601. – DOI
   1. Oniya O, Neves K, Ahmed B, Konje JC. A review of the reproductive consequences of consanguinity. Eur. J. Obstet. Gynecol. Reprod. Biol. 2019;232:87–96. doi: 10.1016/j.ejogrb.2018.10.042. – DOI – PubMed
   1. Bittles A. Consanguinity and its relevance to clinical genetics: consanguinity and its relevance to clinical genetics. Clin. Genet. 2001;60:89–98. doi: 10.1034/j.1399-0004.2001.600201.x. – DOI – PubMed
   1. Fareed M, Afzal M. Evidence of inbreeding depression on height, weight, and body mass index: a population-based child cohort study: inbreeding depression on height, weight, and BMI. Am. J. Hum. Biol. 2014;26:784–795. doi: 10.1002/ajhb.22599. – DOI – PubMed
   1. Bittles AH, Black ML. The impact of consanguinity on neonatal and infant health. Early Hum. Dev. 2010;86:737–741. doi: 10.1016/j.earlhumdev.2010.08.003. – DOI – PubMed

Show all 59 references

MeSH terms

• Aneuploidy
• Blastocyst
• Consanguinity
• Female
• Fertilization in Vitro
• Genetic Testing
• Humans
• Pregnancy
• Pregnancy Outcome
• Preimplantation Diagnosis*
• Retrospective Studies
• Sperm Injections, Intracytoplasmic

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