Microarray Application in Newborns With Multiple Congenital Anomalies

Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation

Objective:

Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and have developed prenatally. Microarray is considered the first-tier diagnostic test for patients with multiple congenital anomalies. The aim of this study is to determine the relationship between microarray results and the phenotype in newborns with multiple congenital anomalies, contribute to patient management by comparing with similar cases in the literature, detect previously unidentified Copy Number Variations (CNV), investigate the hereditary origin of the detected changes, and provide appropriate genetic counseling.

Method:

Between December 2022 and November 2023, newborns with multiple congenital anomalies requiring follow-up and treatment in the Neonatal Intensive Care Unit of Konya City Hospital were evaluated. Newborns with examination findings suggesting a recognizable numerical chromosome anomaly or a history of teratogenicity were excluded from the study. Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included. Microarray studies were performed on patients who met the inclusion criteria. CNVs identified were examined in relevant databases, and pathogenicity was assessed. Detected alterations were compared with the clinical findings in the patient database.

Inclusion Criteria:

• Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included

Exclusion Criteria:

• Newborns with examination findings suggesting a recognizable numerical chromosome anomaly
• History of teratogenicity