Aneuploidy Embryo

An aneuploid embryo is an embryo with an abnormal number of chromosomes. Normally, humans have 46 chromosomes (23 pairs), with 23 coming from the mother's egg and 23 coming from the father's sperm. Aneuploidy can occur when there is an error during the formation of the egg or sperm, resulting in an egg or sperm cell with an abnormal number of chromosomes. Alternatively, aneuploidy can also occur after fertilization, during cell division in the early embryo.

The majority of aneuploid embryos do not result in a viable pregnancy, as they fail to implant or arrest at an early stage of development. However, if an aneuploid embryo does implant, it can result in a miscarriage or the birth of a baby with a genetic disorder such as Down syndrome.

Down syndrome is one of the most common chromosomal abnormalities and is caused by an extra copy of chromosome 21. Babies with Down syndrome often have distinct physical features, intellectual disability, and other health issues. Other examples of aneuploidies include Turner syndrome (missing one of the two X chromosomes in females), Klinefelter syndrome (extra X chromosome in males), and Trisomy 18 (extra chromosome 18). The severity of the symptoms associated with aneuploidies can vary depending on the specific chromosome involved and the number of extra or missing copies.

Prenatal genetic testing can detect aneuploidies and other genetic abnormalities early in pregnancy, allowing parents to make informed decisions about their pregnancy and plan for the appropriate medical care for their child if needed.