[Comparative study of prenatal diagnosis with single nucleotide polymorphism array and karyotype analysis]

Area of Science:

• Genetics
• Prenatal Diagnosis
• Medical Technology

Background:

• High-risk pregnancies require accurate diagnostic methods.
• Karyotype analysis is a traditional method for detecting chromosomal abnormalities.
• Single nucleotide polymorphism (SNP) array analysis offers higher resolution for genetic variations.

Purpose of the Study:

• To compare the diagnostic roles of SNP array and karyotype analysis.
• To evaluate the combined effectiveness of both methods in prenatal diagnosis for high-risk pregnancies.

Main Methods:

• A study involving 141 high-risk pregnant women was conducted.
• Both SNP array detection and karyotype analysis were performed on samples from umbilical cord and amniotic fluid punctures.
• Data were collected between July 2012 and December 2013.

Main Results:

• The karyotype analysis detected abnormalities in 6.4% of cases.
• The SNP array analysis identified abnormalities in 11.3% of cases.
• The combined approach revealed abnormalities in 12.1% of cases, with significant differences noted between SNP array and karyotype analysis (P=0.039).

Conclusions:

• SNP array analysis and karyotype analysis exhibit distinct roles in prenatal genetic testing.
• Integrating SNP array with karyotype analysis enhances the detection of genetic diseases in prenatal diagnosis.