- CDH without any other defects or chromosomal abnormalities is referred to as "isolated CDH".
- About 60% of CDH cases are isolated CDH.
- CDH combined with other defects or genetic disorders is referred to as "complex CDH".
- About 40% of CDH cases are complex CDH.
- As many as 20% of all CDH cases are part of a known genetic syndrome or chromosomal disorder.
- The other cases of complex CDH involve the presence of other defects that may be part of a syndrome or chromosomal abnormality that is not yet identified.
- The majority of major anomalies can be identified during pregnancy with Level II ultrasound and fetal MRI, along with genetic testing from amniocentesis and chorionic villus sampling.
*Source: Ackerman, KG, Russell MK, Pober, BR. "Congenital Diaphragmatic Hernia Overview". GeneReviews. February 1, 2006. NIH. July 17, 2008. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdh-ov
