What is it about?

This research paper compares two advanced genetic testing methods, called whole exome sequencing (WES) and whole genome sequencing (WGS), with traditional methods used for prenatal diagnosis, like chromosomal microarray (CMA). WES focuses on the coding regions of genes, while WGS examines the entire DNA sequence. The study aimed to understand how effective WES and WGS are for diagnosing prenatal conditions compared to the commonly used CMA. Additionally, it explored the potential challenges associated with using WGS and/or WES in prenatal diagnostics.

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Why is it important?

This work is significant because it demonstrates how advanced genetic testing methods can improve the rate of accurate prenatal diagnoses. By evaluating WES and WGS alongside traditional methods like CMA, the study helps us understand the strengths and limitations of each approach. This research is timely as it addresses the growing interest in using advanced genetic testing for prenatal care, and the findings help us move closer to finding the most effective approach.


Advanced genetic testing in prenatal diagnostics has shown significant improvements in the diagnostic yield compared to conventional approaches. This is crucial as it provides expectant parents with important answers about the health of their fetus and enables timely interventions when necessary. In this study, we also aimed to emphasize the challenges associated with implementing these advanced methods in prenatal diagnostics, as they must not be overlooked. By addressing these challenges, our research contributes to ongoing efforts to enhance prenatal care. I believe that our findings will generate interest among healthcare providers and researchers, promoting further advancements in this field.

Ieva Miceikaite
Syddansk Universitet

Read the Original

This page is a summary of: Comprehensive prenatal diagnostics: Exome versus genome sequencing, Prenatal Diagnosis, June 2023, Wiley,
DOI: 10.1002/pd.6402.
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