Microarray Application in Newborns With Multiple Congenital Anomalies (CNV-MCA)

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.

Study Overview

• Status: Completed
• Conditions: Multiple Abnormalies
• Intervention / Treatment: Diagnostic test: Microarray Application

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 Type: Interventional
• Enrollment (Actual): 63
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Turkey
  • Konya, Turkey, 42080
    • Konya City Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: MCA; Multipl Congenital Anomalies	Diagnostic test: Microarray Application; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Copy Number Variant	Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies	1 year

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Konya City Hospital

Publications and helpful links

General Publications

• Szczaluba K, Nowakowska B, Sobecka K, Smyk M, Castaneda J, Klapecki J, Kutkowska-Kazmierczak A, Smigiel R, Bocian E, Radkowski M, Demkow U. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies. Adv Exp Med Biol. 2016;912:1-9. doi: 10.1007/5584_2016_235.
• Szczaluba K, Demkow U. Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies. J Appl Genet. 2017 May;58(2):185-198. doi: 10.1007/s13353-016-0376-z. Epub 2016 Nov 18.

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2022
• Primary Completion (Actual): November 29, 2023
• Study Completion (Actual): March 31, 2024

Study Registration Dates

• First Submitted: November 10, 2024
• First Submitted That Met QC Criteria: November 15, 2024
• First Posted (Estimated): November 19, 2024

Study Record Updates

• Last Update Posted (Estimated): November 19, 2024
• Last Update Submitted That Met QC Criteria: November 15, 2024
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: newborn; microarray; copy number variant; multipl congenital anomalies
• Additional Relevant MeSH Terms: Congenital Abnormalities; Abnormalities, Multiple
• Other Study ID Numbers: 2022-006

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: After the study is published, it can be made available to other researchers.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No