Congenital diaphragmatic hernia screening

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Congenital diaphragmatic hernia Microchapters

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Differentiating Congenital diaphragmatic hernia from Other Diseases

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

Overview

CDH screening is not done commonly and is often found incidentally. Affected patients can range from being symptomatic to asymptomatic. Second trimester screening can determine cases through the use of ultrasonography and MRI, methods that were able to detect 60% of right-sided defects and more than 80% of those with left-sided CDH. Patients with polyhydramnios and an extended familial history of CDH dating back three generation should undergo further testing for diagnosis confirmation. Methods to evaluate for CDH include chorionic villus sampling, amniocentesis as well as chromosomal microarray analysis with the help of SNPs.

Screening

Antenatal screening in the second trimester can determine cases through the use of ultrasonography and MRI. According to the Canadian Pediatric Surgery Network, these methods were able to determine 60% of right-sided defects and more than 80% of those with left-sided CDH.[1] On ultrasonography, a stomach bubble may be noted along with intestinal peristalsis. [2] Ultrasound can also show herniation of the viscera. Patients with polyhydramnios and an extended familial history of CDH dating back three generation should undergo further testing for diagnosis confirmation.

Methods to evaluate CDH prenatally

Screening based on Trimesters [4]
Trimester Optimal time to screen Screening Methods
First 11-13 weeks


Second 15-20 weeks

Methods to evaluate CDH postnatally

In addition to there commonly utilized methods mentioned above, evaluation can be done via:

References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®".   ( ):  . PMID 20301533.
  2. "StatPearls".   ( ). 2022:  . PMID 32310536 Check |pmid= value (help).
  3. Shemilt L, Verbanis E, Schwenke J, Estandarte AK, Xiong G, Harder R; et al. (2015). "Karyotyping human chromosomes by optical and X-ray ptychography methods". Biophys J. 108 (3): 706–13. doi:10.1016/j.bpj.2014.11.3456. PMC 4317545. PMID 25650937.
  4. https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Missing or empty |title= (help)

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