Genomics of stillbirth

Area of Science:

• Perinatal Medicine
• Reproductive Health
• Genetics

Background:

• Stillbirth, defined as fetal death at or after 20 weeks gestation, affects 1 in 175 US pregnancies.
• A significant percentage of stillbirth cases (25%) remain unexplained, with potential for unknown contributing factors.
• Accurate etiological determination is crucial for clinical care, family closure, and understanding recurrence risks.

Purpose of the Study:

• To highlight the importance of comprehensive stillbirth evaluation.
• To address the limitations in current diagnostic practices, including incomplete genomic analysis, fetal autopsy, and placental pathology.
• To explore the potential of next-generation sequencing in improving stillbirth diagnosis.

Main Methods:

• Review of current stillbirth evaluation practices and guidelines (e.g., American College of Obstetrics and Gynecology).
• Discussion of limitations in traditional genetic analyses (karyotype, chromosomal microarray).
• Exploration of next-generation sequencing (NGS) as an advanced diagnostic tool.

Main Results:

• Current stillbirth evaluations are not uniformly performed, leading to incomplete data.
• Genomic analysis, including karyotype and chromosomal microarray, has limitations in diagnostic yield.
• Next-generation sequencing shows promise for enhancing diagnostic clarity in stillbirth cases.

Conclusions:

• Standardized and comprehensive stillbirth evaluation is essential for accurate diagnosis.
• Next-generation sequencing represents a significant advancement over traditional methods for genetic analysis in stillbirth.
• Improved diagnostic capabilities can provide critical information for clinicians and grieving families.