Microarray Application in Newborns With Multiple Congenital Anomalies
NCT06694896 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 63
Last updated 2024-11-19
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
Interventions
- 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.
Sponsors & Collaborators
-
Konya City Hospital
lead OTHER
Study Design
- Allocation
- NA
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 1 Day
- Max Age
- 30 Days
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-12-01
- Primary Completion
- 2023-11-29
- Completion
- 2024-03-31
Countries
- Turkey (Türkiye)
Study Locations
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