Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities...

Area of Science:

• Medical Genetics
• Prenatal Diagnostics
• Bioinformatics

Background:

• Fetal structural abnormalities are often associated with genetic aberrations.
• Accurate prenatal testing is crucial for diagnosis and management.
• Predicting the diagnostic yield of various genetic tests is essential for informed decision-making.

Purpose of the Study:

• To evaluate the diagnostic yield of prenatal testing and screening options for fetal structural abnormalities.
• To introduce and apply a novel mathematical model for yield prediction.
• To compare the efficacy of different genetic testing modalities.

Main Methods:

• Retrospective chart review of infants with structural abnormalities.
• Collection of genetic testing data.
• Application of a novel mathematical model to predict diagnostic yields.

Main Results:

• Over a quarter (28.1%) of patients with structural abnormalities had an identified genetic aberration.
• Chromosomal microarray (CMA) demonstrated the highest predicted diagnostic yield (26.8%).
• Genome-wide non-invasive prenatal testing (NIPT) and karyotype showed similar yields; whole exome sequencing was effective for isolated abnormalities.

Conclusions:

• A novel mathematical model can predict the yield of prenatal genetic testing.
• CMA is the most effective diagnostic tool for fetal structural abnormalities.
• Expanded NIPT options present a viable alternative to invasive testing when accompanied by thorough pre-test counseling.