Microarray Application in Newborns With Multiple Congenital Anomalies

NCT06694896 | Completed

• 1 other identifier: 2022-006
• Study Type: interventional
• Target: 63
• Locations: 1 country
• Sites: 1

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.

Conditions

Multiple Abnormalies

Keywords

newborn; multipl congenital anomalies; microarray; copy number variant

Outcome Measures

Primary Outcomes (1)

• Copy Number Variant

  Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies

  1 year

Secondary Outcomes (1)

• Copy Number Variant

  1 year

Study Arms (1)

MCA

OTHER

Multipl Congenital Anomalies

Diagnostic Test: Microarray Application

Interventions

Microarray Application DIAGNOSTIC_TEST

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.

MCA

Eligibility Criteria

• Age: 1 Day - 30 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Konya City Hospital: lead

Study Sites (1)

Konya City Hospital

Konya, 42080, Turkey (Türkiye)

Location

Related Publications (2)

• 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.

  PMID: 26987320 BACKGROUND

• 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.

  PMID: 27858254 BACKGROUND

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator (Specialist)

Model Details: 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 Record Dates

• First Submitted: November 10, 2024
• First Posted: November 19, 2024
• Study Start: December 1, 2022
• Primary Completion: November 29, 2023
• Study Completion: March 31, 2024
• Last Updated: November 19, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)