Can non-invasive testing detect Kabuki syndrome?

　　Kabuki syndrome, also known as Kabuki mask syndrome, is a rare genetic disorder. "Non-invasive" refers to non-invasive prenatal testing (NIPT). Kabuki mask syndrome is difficult to diagnose definitively through non-invasive prenatal testing. If there are concerns, it is recommended to seek medical advice in advance. Detailed analysis is as follows:

　　Non-invasive prenatal testing primarily involves collecting maternal peripheral blood and performing sequencing analysis on the free fetal DNA present to detect common fetal chromosomal aneuploidies, such as trisomy 21, trisomy 18, and trisomy 13 syndromes. It mainly targets chromosomal numerical abnormalities and has a relatively limited scope of detection.

　　Kabuki mask syndrome is a rare disease caused by genetic variations, most commonly pathogenic variants in the KMT2D or KDM6A genes, and is not due to chromosomal numerical abnormalities. These subtle genetic changes exceed the capabilities of non-invasive prenatal testing. NIPT cannot comprehensively and specifically analyze the related genes, thus making it difficult to detect the genetic variations responsible for Kabuki mask syndrome.

　　Diagnosis of Kabuki mask syndrome may require genetic testing, including whole exome sequencing or targeted gene testing, to thoroughly analyze the relevant genes and identify the presence of pathogenic mutations. Additionally, diagnosis requires comprehensive evaluation based on the patient's clinical manifestations and symptoms.