Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 63
- 试验地点
- 2
- 主要终点
- Copy Number Variant
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Day 至 30 Days（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Newborns with two major or one major and two minor, or three or more minor congenital anomalies were included
排除标准
- •Newborns with examination findings suggesting a recognizable numerical chromosome anomaly
- •History of teratogenicity
结局指标
主要结局
Copy Number Variant
时间窗: 1 year
Primary outcome variable: To investigate the relationship between chromosomal disorders and newborns with Multiple Congenital Anomalies
次要结局
- Copy Number Variant(1 year)
研究者
RAMAZAN KEÇECİ
Principal Investigator (Specialist)
Konya City Hospital