Utility of chromosomal microarray in anomalous fetuses

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Reproductive Medicine

Background:

• Sonographic abnormalities in fetuses can indicate underlying genetic issues.
• Copy number variants (CNV) are a significant cause of congenital anomalies.
• Understanding the impact of CNV on perinatal outcomes is crucial for patient counseling.

Purpose of the Study:

• To investigate the association between fetal copy number variants (CNV) and perinatal outcomes.
• To determine if abnormal chromosomal microarray (CMA) results influence perinatal mortality.
• To assess the impact of CNV on secondary perinatal outcomes like preterm birth.

Main Methods:

• Retrospective cohort study of fetuses with sonographic abnormalities undergoing CMA testing.
• Classification of CNV as pathogenic or variants of uncertain significance.
• Comparison of perinatal death rates between fetuses with normal and abnormal CMA results, adjusting for confounders.

Main Results:

• Abnormal CMA results were found in 21.4% of fetuses.
• Abnormal CMA was not associated with an increased odds of perinatal death (aOR 0.81).
• No significant differences were observed in secondary outcomes, including preterm birth and small for gestational age.

Conclusions:

• Abnormal fetal CNV detected by CMA did not increase the risk of perinatal death in this cohort.
• Fetal CNV are prevalent in fetuses referred to a fetal center.
• Fetuses with sonographic abnormalities have a high risk of perinatal death, irrespective of CNV findings.