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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Diagnosis |
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Treatment |
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Congenital diaphragmatic hernia screening On the Web |
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American Roentgen Ray Society Images of Congenital diaphragmatic hernia screening |
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Directions to Hospitals Treating Congenital diaphragmatic hernia |
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Risk calculators and risk factors for 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 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
- 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
References