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Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.

Meiying Cai1, Na Lin1, Nan Guo1

  • 1Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Scientific Reports
|May 4, 2023
PubMed
Summary

Single nucleotide polymorphism array (SNP-array) analysis in prenatal diagnostics identified pathogenic copy number variations (pCNVs) in 8.3% of 8386 pregnancies. Risk factors like positive non-invasive prenatal testing significantly increased pCNV detection rates.

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