Congenital diaphragmatic hernia other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S

Diagnostic studied that can be utilized include high resolution ultrasound, chorionic villus sampling, amniocentesis, microarray analysis, and karyotyping. Although these studies are not necessarily diagnostic for CDH, they help identify underlying genetic defects which have a high correlation rate with diaphragmatic hernia’s.

• High resolution Ultrasound: assess for birth defects that may have been overlooked in initial ultrasounds; often done at 18-22 weeks^[1]

• Chorionic villus sampling: collecting a sample of placenta tissues to determine the presence or absence of genetic or chromosomal disorders; performed between 10-12 weeks

  

• Amniocentesis: process by which fluid containing cells surrounding the baby is collected. These cells can then be tested for genetic defects. Due to the higher risk carried by this procedure, it is not a routine one and is performed only when indicated after other abnormal tests; often performed between 15-18 weeks of gestation
  • AFP
  • Acetylcholinesterase

    

• Chromosomal microarray analysis: Single Nucleotide Polymorphisms (SNPs) can detect microdeletions and microduplications
• Karyotyping: a process by which chromosomes are identified and sorted^[2]