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Chromosomal Abnormalities and Pregnancy: Research Review

A short overview of the role of chromosomal abnormalities in fertility and the science behind it.

March 31, 2022 Pregmune Team
Chromosomal abnormalities

Although many chromosomal abnormalities are debilitating or fatal, sometimes the only indication of a parent’s chromosomal abnormality is reproductive difficulty. Abnormalities can include deletions, duplications, and genetic rearrangements where sections of chromosomes have been shuffled around.

Despite being otherwise healthy, parents with chromosomal abnormalities might have trouble producing eggs or sperm with a full set of normal chromosomes. A chromosomal analysis visually examines the parents’ chromosomes for any major structural anomalies. Because this is a visual test, it only detects large chromosomal changes containing multiple genes; it is not a genetic analysis that will detect gene-specific mutations.


One of the most common forms of chromosomal abnormalities in healthy individuals is a translocation. This is what happens when a chromosome breaks and one or more fragments reattach to a different chromosome. In this scenario, the person usually still has all of the genes required for full health, but when their chromosomes are sorted to produce sperm or eggs, those sex cells might not be formed with a full set of the genes required for life.

Published clinical data

Chromosomal abnormalities are recognized to be a common source of infertility.

Chromosomal abnormalities have also been linked to miscarriage. In a population of 2,382 couples who had experienced two or more consecutive miscarriages, 5.4% of the couples were found to have an abnormal set of chromosomes in at least one partner. When those couples with chromosomal abnormalities were followed through their next pregnancy, they were significantly more likely to have another miscarriage compared to couples without chromosomal abnormalities.

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About Pregmune: We’re an innovative reproductive health technology company, built on a solid foundation of data gained from decades of experience and thousands of successful pregnancies. Our team of fertility specialists and scientists are using artificial intelligence to decipher the complexity of the immune system and help patients grow the families of their dreams.

Our first product, IRMA, provides patients and their doctors with a personalized report and evidence-based treatment plan that addresses immunological sources of unexplained infertility, recurrent pregnancy loss, and recurrent implantation failure.