Konya City Hospital
Konya, 42080, Turkey (Türkiye)
Completed
NCT Number: NCT06694896
Microarray Application in Newborns With Multiple Congenital Anomalies
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.
Completed
Looking for future studies?
Notify MeKey information
Conditions
Age range
1 day–30 day
Sex eligibility
All sexes
Study type
Interventional
Phase
Not applicable
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Microarray Application
Diagnostic TestMicroarray 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.
Primary outcomes
-
Copy Number Variant
Time frame: 1 year
Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies
Secondary outcomes
-
Copy Number Variant
Time frame: 1 year
Secondary outcome variable: To investigate the relationship between parental transmission of chromosomal disorders found in newborns with Multiple Congenital Anomalies.
Sponsors and collaborators
Lead sponsor
Konya City Hospital
Other
Registry information
Official study title
Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation
Acronym: CNV-MCA
Important dates
- Study start
- 2022
- Primary completion
- 2023
- Study completion
- 2024
- First posted
- Nov 19, 2024
- Registry last updated
- Nov 19, 2024
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
Related clinical trials
Published trials that share one or more normalized conditions with this study.
Completed
Phenotype and Etiology of Pallister-Hall Syndrome
NCT00001404
Abnormalities, Multiple, Bone Diseases
Los Angeles, California, United States
View Trial Details