[Genetic analysis of 100 fetuses with cleft lip with or without palate]

To explore the genetic basis for fetuses with cleft lip and palate.

For 100 fetuses diagnosed with cleft lip with or without palate, G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out on chorionic villi, amniotic fluid or cordocentesis samples.

No genomic abnormality was found among 49 fetuses with isolated cleft lip and palate, while 12 genomic aberrations were found among 51 fetuses with syndromic cleft lip and palate, which included 4 cases with trisomy 13, 2 cases with trisomy 18, 1 with X chromosome aneuploidy, 2 with other chromosomal aneuploidies and 3 with pathogenic CNVs.

The incidence of genomic abnormalities in fetuses with cleft lip and palate was high. In addition to chromosomal abnormalities, attention should also be paid to pathogenic CNVs.