Abnormal chromosomes identification using chromosomal microarray.

Area of Science:

• Prenatal diagnostics
• Cytogenetics
• Genomics

Background:

• Chromosomal microarray (CMA) identifies submicroscopic imbalances or copy number variations (CNVs) missed by standard karyotyping.
• CMA is increasingly adopted for prenatal invasive testing.

Purpose of the Study:

• To evaluate the diagnostic efficacy of CMA for fetal chromosomal abnormalities.
• To highlight CMA's ability to detect abnormalities undetectable by conventional karyotyping.

Main Methods:

• A case series approach was used.
• Pregnant women requiring prenatal diagnosis were enrolled.
• Single nucleotide polymorphism array (SNP-array) was employed for aberrant cytogenetic findings.

Main Results:

• Six cases with abnormal karyotypes were analyzed.
• CMA detected smaller chromosomal imbalances and translocation breakpoints with higher resolution.
• Submicroscopic abnormalities were identified that were undetectable by conventional karyotyping.

Conclusions:

• CMA is valuable for detecting submicroscopic fetal chromosomal abnormalities.
• CMA enhances diagnostic capabilities beyond conventional karyotyping.
• Further research can explore clinical implications of CMA findings.