What Is Trisomy 18?

Understanding Trisomy 18

This post was written with Consensus AI Academic Search Engine – please read our Disclaimer at the end of this article. Trisomy 18, also known as Edwards syndrome, is a chromosomal condition caused by the presence of an extra chromosome 18. This genetic anomaly results in a total of three copies of chromosome 18 instead of the usual two. It is one of the more common trisomies, following Trisomy 21 (Down syndrome) in prevalence. The condition is associated with a high rate of miscarriage and severe developmental and physical disabilities in affected individuals1 2.

Screening and Diagnosis

Screening for Trisomy 18 can be performed using various prenatal testing methods. First-trimester combined screening (FTCS) and cell-free DNA (cfDNA) testing are two common approaches. FTCS involves a combination of ultrasound and biochemical markers, while cfDNA testing analyzes fetal DNA circulating in the mother’s blood. Studies have shown that cfDNA-based approaches have a lower false-positive rate compared to traditional methods, making them a more reliable option for detecting Trisomy 181 2.

Clinical Features and Prognosis

Individuals with Trisomy 18 often exhibit a range of clinical features, including heart defects, kidney problems, and developmental delays. The prognosis for Trisomy 18 is generally poor, with many affected infants not surviving beyond the first year of life. Those who do survive often experience significant health challenges and require comprehensive medical care1.

Research and Advances

Recent research has focused on improving the accuracy of prenatal screening methods for Trisomy 18. The PEGASUS study, for example, compared the effectiveness of different sequencing platforms for non-invasive prenatal screening (NIPS) and found high detection rates with low false-positive rates for Trisomy 18, highlighting the potential for these technologies to enhance early diagnosis and management of the condition2.

Conclusion

Trisomy 18 is a serious genetic disorder with significant implications for affected individuals and their families. Advances in prenatal screening, particularly through cfDNA testing, offer promising improvements in early detection and diagnosis, which can aid in better management and care planning for those affected by this condition.

Disclaimer

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