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Table 1 Ranking of diseases for DNA mutation analysis and karyotyping

From: Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Disease N Normal karyotype ≥ 36 years Abnormal karyotype Abnormal karyotype (≥ 36 years) Case no.
     (< 36 years)   
Fragile X syndrome 57 57 9    
Huntington's disease 39 37 6 2   1,9
Duchenne muscular dystrophy 33 32 6   1 2
Spinal Muscular Atrophy 30 27 14   3 5,6,13
Myotonic dystrophy 29 26 5 2 1 3,11,1
Hurler syndrome 8 7 2 1   4
Spondyloepiphyseal dysplasia 7 6 1 1   12
Hemophagocytic lymphohistiocytosis 5 4 1 1   18
Monoamine oxidase A deficiency 5 4 2 1   10
X-linked MR 5 4   1   17
Paternity testing 3 2 2   1 19
Wilms tumors 3 2 1   1 15
Canavan disease 2 1 2   1 7
Nonsyndromic hearing loss 2 1   1   16
Nail-patella syndrome 1 0   1   8
Other diseases 271 271 56    
Total 500 481 117 11 8