• Importance of single nucleotid...

Treffer: Importance of single nucleotide polymorphism microarray in prenatal diagnosis.

Title:
Importance of single nucleotide polymorphism microarray in prenatal diagnosis.
Authors:
Feng Z; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Chen Y; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Yi F; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Li M; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Jiang S; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., He C; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Chen Y; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Chen M; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China., Li W; Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China.
Source:
Advances in clinical and experimental medicine : official organ Wroclaw Medical University [Adv Clin Exp Med] 2025 Nov; Vol. 34 (11), pp. 1929-1935.
Publication Type:
Journal Article
Language:
English
Journal Info:
Publisher: Wroclaw Medical University Country of Publication: Poland NLM ID: 101138582 Publication Model: Print Cited Medium: Print ISSN: 1899-5276 (Print) Linking ISSN: 18995276 NLM ISO Abbreviation: Adv Clin Exp Med Subsets: MEDLINE
Imprint Name(s):
Original Publication: Wroclaw, Poland : Wroclaw Medical University
MeSH Terms:
Polymorphism, Single Nucleotide* , Prenatal Diagnosis*/methods , Oligonucleotide Array Sequence Analysis*/methods , Congenital Abnormalities*/diagnosis , Congenital Abnormalities*/genetics , Microarray Analysis*/methods, Humans ; Female ; Pregnancy ; Karyotyping ; Adult ; DNA Copy Number Variations ; Aneuploidy
Contributed Indexing:
Keywords: SNP microarray analysis; karyotype analysis; prenatal diagnosis
Entry Date(s):
Date Created: 20250526 Date Completed: 20251126 Latest Revision: 20251126
Update Code:
20251126
DOI:
10.17219/acem/202728
PMID:
40418160
Database:
MEDLINE

Weitere Informationen

Background: With the increasing number of older pregnant women and environmental pollution, the incidence of congenital malformations increases every year. Prenatal diagnosis is an effective means of identifying congenital malformations.
Objectives: To evaluate the clinical utility of single nucleotide polymorphism (SNP) microarray analysis during prenatal evaluations.
Material and Methods: To assess the similarities and differences between the 2 approaches, 425 pregnant women were selected to undergo prenatal gene SNP microarray analysis and karyotype analysis during prenatal evaluation between January 2020 and August 2021.
Results: The success rate of SNP microarray analysis was 100%, which was statistically different from that of karyotype analysis (92%, Fisher's exact test, p < 0.001). The positive rate of SNP detection was 10.4% higher than karyotype analysis, which was 6.6% (Pearson's χ2 test, χ2 = 3.89, degrees of freedom (df) = 1, p = 0.049). Karyotype analysis detected 28 cases of aneuploidy; SNPs could not only detect these results of karyotype analysis, but 16 cases of copy number variations (CNV) with obvious pathogenicity, including duplications/deletions, chimerism and loss of heterozygosity (LOH).
Conclusions: Single nucleotide polymorphism microarray analysis technology is an important method used in prenatal genetic evaluations, which can find fetal genetic etiologies, correctly evaluate the fetal prognosis during prenatal clinical examination, and provide a more objective basis for whether to continue the pregnancy.