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Diagnosis

Chromosomal Abnormality

An error in the number or structure of chromosomes in an embryo or fetus, often causing miscarriage.

Humans normally have 46 chromosomes in each cell. Chromosomal abnormalities include aneuploidy (wrong number, such as trisomy 21/Down syndrome), deletions, duplications, and translocations. In embryos, aneuploidy is the leading cause of implantation failure and miscarriage.

The rate of chromosomal errors in embryos rises steeply with maternal age: roughly 25% at age 30 and over 60% at age 40. Preimplantation genetic testing for aneuploidy (PGT-A) screens IVF embryos before transfer to identify euploid (chromosomally normal) embryos, with the goal of reducing miscarriage rates and improving live birth rates per transfer.

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