Congenital diaphragmatic hernia screening

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 have been 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 generations 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 generations should undergo further testing for diagnosis confirmation.

Methods to evaluate CDH prenatally

Chorionic villus sampling and Amniocentesis: these methods can help detect genetic anomalies such as trisomies and turner syndrome
Chromosomal microarray analysis: Single Nucleotide Polymorphisms (SNPs) can detect microdeletions and microduplications
Karyotyping: a process by which chromosomes are identified and sorted^[3]

Screening based on Trimesters^[4]
Trimester	Optimal time to screen	Screening Methods
First	11-13 weeks	Maternal blood serum used to measure hCG and plasma protein A (PAPP-A); abnormal protein levels may indicate the presence of a a chromosomal disorder that must be assessed further Ultrasound assesses for the presence of increased fluid
Second	15-20 weeks	Maternal serum screen (referred to as triple screen or quad screen) measurement of alpha-fetoprotein (AFP), hCG, estriol and inhibin-A Fetal Echocardiogram assess for cardiac defects that may indicate underlying chromosomal abnormalities Ultrasound

Methods to evaluate CDH postnatally

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

References

↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). “GeneReviews®”. ( ): . PMID 20301533.
↑ “StatPearls”. ( ). 2022: . PMID 32310536 Check |pmid= value (help).
↑ 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.
↑ https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Missing or empty |title= (help)

[pmid20301533-1] Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). “GeneReviews®”. ( ): . PMID 20301533.

[pmid32310536-2] “StatPearls”. ( ). 2022: . PMID 32310536 Check |pmid= value (help).

[pmid25650937-3] 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.

[“CDC”-4] ttps://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Missing or empty |title= (help)

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