Clinical Scorecard: Uncovering Hidden Genetic Causes of Infertility

At a Glance

Key Highlights

• Long-read WGS can simplify genetic testing pathways for infertility.
• Approximately 4.8% of individuals had pathogenic variants linked to infertility.
• One in 10 affected couples may carry a clinically significant genetic variant.
• The sequencing workflow achieved an average genome coverage depth of 34.6×.
• Balanced chromosomal rearrangements may still require conventional karyotyping.

Guideline-Based Recommendations

Diagnosis

• Consider long-read WGS for couples with unexplained subfertility or recurrent pregnancy loss.

Management

• Utilize long-read WGS to identify clinically relevant genetic variants.

Monitoring & Follow-up

• Further studies needed to assess diagnostic yield and clinical utility.

Risks

• Current limitations include cost and the inability to reliably identify balanced chromosomal rearrangements.

Patient & Prescribing Data

Individuals with unexplained subfertility or recurrent pregnancy loss.

Clinical Best Practices

• Test both male and female partners during fertility evaluations.

Related Resources & Content

• Study on long-read WGS for infertility