Clinical trial NCT06694896: Microarray Application in Newborns With Multiple Congenital Anomalies
Official title: Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Multiple Abnormalies
Keywords: newborn
multipl congenital anomalies
microarray
copy number variant
Lead sponsor: Konya City Hospital
Sponsor class: OTHER
First posted: 2024-11-19
Enrollment: 63
Sex: ALL
Minimum age (years): 1
Maximum age (years): 30
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: 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.
Primary purpose: DIAGNOSTIC

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Copy Number Variant
timeFrame: 1 year
Secondary outcomes:
measure: Copy Number Variant
timeFrame: 1 year
Other outcomes:
Locations:
city: Konya
country: Turkey
facility: Konya City Hospital
Study officials:
References:
citation: 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.
citation: 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.