Which testing method is most effective for detecting multiple anomalies including non-syndromic developmental delay?

The most effective testing method for detecting multiple anomalies, including non-syndromic developmental delay, is chromosomal microarray analysis (CMA). CMA is particularly useful because it can identify submicroscopic chromosomal abnormalities, such as copy number variations (CNVs), which can be responsible for diverse clinical features and developmental delays.

Single nucleotide polymorphism (SNP) arrays, which are a component of CMA, enhance its sensitivity in detecting changes at a resolution that traditional karyotyping cannot achieve. This allows CMA to uncover microdeletions or microduplications that might be missed with other methods, making it particularly adept at identifying causes of developmental delays that are not easily classified into syndromes.

Other testing methods have specific uses but may not encompass the range needed for developmental delay detection as effectively as CMA. Karyotype analysis typically detects larger chromosomal abnormalities but may not catch smaller deletions or duplications that can be significant in developmental disorders. MS-MLPA is more specialized for detecting specific types of genetic disorders and may not provide comprehensive results for broad developmental delays. Exome sequencing, while powerful for identifying single nucleotide variants in coding regions, may not detect structural chromosomal abnormalities that CMA would reveal.

Thus, for a comprehensive evaluation of multiple