Microarray Application in Newborns With Multiple Congenital Anomalies

Not Applicable

Completed

• Conditions: Multiple Abnormalies

• Registration Number: NCT06694896
• Lead Sponsor: Konya City Hospital

Brief Summary

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.

Detailed Description

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.

Study Timeline

• Study Start: 2022-12-01
• Primary Completion: 2023-11-29
• Study Completion: 2024-03-31
• Status Verified: 2024-11
• Study First Submitted: 2024-11-10
• Study First Submitted QC: 2024-11-15
• Last Update Submitted: 2024-11-15
• Study First Posted: 2024-11-19
• Last Update Posted: 2024-11-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 63

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Copy Number Variant	1 year	Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies

Secondary Outcome Measures

Name	Time	Method
Copy Number Variant	1 year	Secondary outcome variable: To investigate the relationship between parental transmission of chromosomal disorders found in newborns with Multiple Congenital Anomalies.

Trial Locations

Locations (1)

Konya City Hospital; 🇹🇷 Konya, Turkey