PPM - Prenatal Exome Sequencing after Abnormal Fetal Ultrasound-Description and References

Description and References

Pdf Summary

Prenatal exome sequencing is being considered as an option for genetic testing in cases where fetal anomalies are detected during ultrasound examinations. This approach may provide additional diagnostic information in cases where the condition cannot be diagnosed through traditional methods such as karyotype testing. While chromosomal microarray testing has increased the diagnostic rate by 4-6% for ultrasound abnormalities with normal karyotypes, there are still many cases where a diagnosis cannot be made. Prenatal exome sequencing has the potential to improve the diagnostic yield in these cases. <br /><br />It is important to offer genetic counseling to patients with fetal anomalies and discuss the available testing options, including prenatal exome sequencing. This type of sequencing may also be considered in cases of recurrent fetal phenotypes or pregnancies that resulted in fetal demise. However, this module does not focus on these circumstances. <br /><br />The use of prenatal exome sequencing has been discussed in various scientific papers and guidelines. The International Society for Prenatal Diagnosis and the American College of Medical Genetics and Genomics have both published position statements and points to consider documents on the topic. Additionally, the Committee on Genetics and the Society for Maternal-Fetal Medicine has issued an opinion on the use of advanced genetic diagnostic tools in obstetrics and gynecology, including microarrays and next-generation sequencing technology. <br /><br />Overall, prenatal exome sequencing is a promising option for diagnosing fetal anomalies when traditional methods have been unsuccessful. It is important to provide appropriate pre and posttest counseling and follow-up to ensure the best outcomes for patients.

Keywords

Prenatal exome sequencing

Genetic testing

Fetal anomalies

Ultrasound examinations

Diagnostic information

Karyotype testing

Chromosomal microarray testing

Diagnostic rate

Genetic counseling

Next-generation sequencing technology