Abstract
Purpose
To assess the primary sex ratio (males-to-females at time of conception) in blastocysts from consanguine couples undergoing IVF/ICSI treatments and its correlation with chromosomal constitution.
Method
A total of 5135 blastocysts were analyzed by preimplantation-genetic testing for aneuploidy (PGT-A) with next-generation sequencing (NGS) from November 2016 to December 2020. From those, a total of 1138 blastocysts were from consanguine couples (CS) and 3997 from non-consanguine couples (NCS). Only blastocysts presenting normal sex chromosome constitution with or without autosomal aneuploidies were included. Primary sex ratio (PSR) of biopsied blastocysts was compared between CS and NCS couples.
Results
Expanded blastocysts derived from CS had 47.7% XY versus 52.3% XX constitutions, presenting a PSR of 0.91. In NCS, 48.9% of expanded blastocysts were XY and 51.2% XX, with a less pronounced PSR of 0.95. When stratifying embryos by ploidy, euploid embryos from CS had the lowest PSR (0.87) with 46.6% XY versus 53.4% XX blastocysts (OR 0.89, 95% CI 0.70–1.14; NS), but it did not achieve statistical significance. The lower PSR seemed rather related to euploid embryos from first-degree cousins (PSR = 0.80 versus 0.98 in second-degree cousins, NS). Euploid embryos from NCS presented a PSR of 0.96, with 49.1% XY versus 50.9% XX blastocysts (OR 0.98, 95% CI 0.79–1.22; NS). Significant differences in prevalence of euploidy of specific chromosomes were encountered between CS and NCS.
Conclusions
The primary sex ratio was generally similar in expanded blastocysts from consanguine and non-consanguine couples, with a slight decrease in primary sex ratio of euploid blastocysts from consanguine couples.
Similar content being viewed by others
References
Hamamy H. Consanguineous marriages: preconception consultation in primary health care settings. J Community Genet. 2012;3:185–92.
Heidari F, Dastgiri S, Akbari R, Khamnian Z, Khanlarzadeh E, Baradaran M, et al. Prevalence and risk factors of consanguineous marriage. Electron J Gen Med [Internet]. 2014 [cited 2022 Jun 30];11. Available from: http://www.ejgm.co.uk/article/prevalence-and-risk-factors-of-consanguineousmarriage-7175
Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, et al. Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2002;11:97–119.
Obeidat BR, Khader YS, Amarin ZO, Kassawneh M, Al OM. Consanguinity and adverse pregnancy outcomes: the North of Jordan experience. Matern Child Health J. 2010;14:283–9.
Maghsoudlou S, Cnattingius S, Aarabi M, Montgomery SM, Semnani S, Stephansson O, et al. Consanguineous marriage, prepregnancy maternal characteristics and stillbirth risk: a population-based case–control study. Acta Obstet Gynecol Scand. 2015;94:1095–101.
Fareed M, Afzal M. Estimating the inbreeding depression on cognitive behavior: a population based study of child cohort. PLoS ONE. 2014;9:e109585.
Bittles AH. The role and significance of consanguinity as a demographic variable. Popul Dev Rev. 1994;20:561.
Inhorn MC, Kobeissi L, Nassar Z, Lakkis D, Fakih MH. Consanguinity and family clustering of male factor infertility in Lebanon. Fertil Steril. 2009;91:1104–9.
Melado L, Lawrenz B, Loja R, Coughlan C, Altobelli G, Bayram A, et al. Female parental consanguinity is associated with a reduced ovarian reserve. Reprod Biomed Online. 2021;S1472648321005940.
Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A. 2010;107:1779–86.
Minasi MG, Fiorentino F, Ruberti A, Biricik A, Cursio E, Cotroneo E, et al. Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach. Hum Reprod. 2017;32:1770–7.
Lakshmi LPS, Professor and HOD, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India, D A, Associate Professor, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India, Kadandale JS, Consultant cytogenetist, Division of cytogenetic, Dept of Anatomy, Sri Siddhartha Medical College, Tumakuru, Karnataka, India, et al. Consanguinity and chromosomal abnormalities. Int J Anat Res. 2017;5:4531–7.
Pashaei M, Abdi A, Mousavi F, Bagherizadeh I, Dokhanchi A, Ghadami E, et al. Prevalence of chromosomal abnormalities in patients with consanguineous marriages referred to Sarem Women’s Hospital, Tehran. Iran Sarem J Med Res. 2021;6:85–93.
Melado L, Lawrenz B, Nogueira D, Raberi A, Patel R, Bayram A, et al. Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples. Sci Rep. 2023;13:8857.
Lazzari G, Colleoni S, Duchi R, Galli A, Houghton FD, Galli C. Embryonic genotype and inbreeding affect preimplantation development in cattle. Reproduction. 2011;141:625–32.
Eaton JL, Hacker MR, Barrett CB, Thornton KL, Penzias AS. Influence of embryo sex on development to the blastocyst stage and euploidy. Fertil Steril. 2011;95:936–9.
Korkidakis A, Groff A, Shah JS, Leung AQ, Penzias AS, Sakkas D. The effect of X-chromosome copy number on blastulation time in embryos with sex chromosome aneuploidies. Fertil Steril. 2021;116:e149–50.
Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, et al. Sex-chromosome dosage effects on gene expression in humans. Proc Natl Acad Sci. 2018;115:7398–403.
La Marca A, Sunkara SK. Individualization of controlled ovarian stimulation in IVF using ovarian reserve markers: from theory to practice. Hum Reprod Update. 2014;20:124–40.
Escribà M-J, Vendrell X, Peinado V. Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview. Reprod Biol Endocrinol. 2019;17:76.
Chao F, Kc S, Ombao H. Estimation and probabilistic projection of levels and trends in the sex ratio at birth in seven provinces of Nepal from 1980 to 2050: a Bayesian modeling approach. BMC Public Health. 2022;22:358.
Mathews TJ, Hamilton BE. National Vitals Statistics Reports. 2005;53(20):1–20.
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.
Shawky RM, Elsayed SM, Zaki ME, Nour El-Din SM, Kamal FM. Consanguinity and its relevance to clinical genetics. Egypt J Med Hum Genet. 2013;14:157–64.
Patrat C, Ouimette J-F, Rougeulle C. X chromosome inactivation in human development. Development. 2020;147:dev183095.
Hayashi MT, Karlseder J. DNA damage associated with mitosis and cytokinesis failure. Oncogene. 2013;32:4593–601.
Hentemann MA, Briskemyr S, Bertheussen K. Blastocyst transfer and gender: IVF versus ICSI. J Assist Reprod Genet. 2009;26:433–6.
Luna M, Duke M, Copperman A, Grunfeld L, Sandler B, Barritt J. Blastocyst embryo transfer is associated with a sex-ratio imbalance in favor of male offspring. Fertil Steril. 2007;87:519–23.
Richter K, Anderson M, Osborn B. Selection for faster development does not bias sex ratios resulting from blastocyst embryo transfer. Reprod Biomed Online. 2006;12:460–5.
Bronet F, Nogales M-C, Martínez E, Ariza M, Rubio C, García-Velasco J-A, et al. Is there a relationship between time-lapse parameters and embryo sex? Fertil Steril. 2015;103:396-401.e2.
Serdarogullari M, Findikli N, Goktas C, Sahin O, Ulug U, Yagmur E, et al. Comparison of gender-specific human embryo development characteristics by time-lapse technology. Reprod Biomed Online. 2014;29:193–9.
Alfarawati S, Fragouli E, Colls P, Stevens J, Gutiérrez-Mateo C, Schoolcraft WB, et al. The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril. 2011;95:520–4.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Nogueira, D., Fatemi, H.M., Lawrenz, B. et al. Primary sex ratio in euploid embryos of consanguine couples after IVF/ICSI. J Assist Reprod Genet 41, 957–965 (2024). https://doi.org/10.1007/s10815-024-03044-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-024-03044-6