Congenital diaphragmatic hernia screening: Difference between revisions
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==Screening== | ==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.<ref name="pmid20301533">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301533 | doi= | pmc= | url= }}</ref> On [[ultrasonography]], a [[stomach bubble]] may be noted along with [[intestinal peristalsis]]. <ref name="pmid32310536">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> [[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. | [[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.<ref name="pmid20301533">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301533 | doi= | pmc= | url= }}</ref> On [[ultrasonography]], a [[stomach bubble]] may be noted along with [[intestinal peristalsis]].<ref name="pmid32310536">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=32310536 | doi= | pmc= | url= }}</ref> [[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=== | ===Methods to evaluate CDH prenatally=== | ||
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*[[Chorionic villus sampling]] and [[Amniocentesis]]: these methods can help detect genetic anomalies such as [[trisomies]] and [[turner syndrome]] | *[[Chorionic villus sampling]] and [[Amniocentesis]]: these methods can help detect genetic anomalies such as [[trisomies]] and [[turner syndrome]] | ||
*Chromosomal [[microarray]] analysis: [[Single nucleotide polymorphism|Single Nucleotide Polymorphisms (SNPs)]] can detect [[microdeletions]] and [[microduplications]] | *Chromosomal [[microarray]] analysis: [[Single nucleotide polymorphism|Single Nucleotide Polymorphisms (SNPs)]] can detect [[microdeletions]] and [[microduplications]] | ||
*[[Karyotyping]]: a process by which chromosomes are identified and sorted <ref name="pmid25650937">{{cite journal| author=Shemilt L, Verbanis E, Schwenke J, Estandarte AK, Xiong G, Harder R | display-authors=etal| title=Karyotyping human chromosomes by optical and X-ray ptychography methods. | journal=Biophys J | year= 2015 | volume= 108 | issue= 3 | pages= 706-13 | pmid=25650937 | doi=10.1016/j.bpj.2014.11.3456 | pmc=4317545 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25650937 }}</ref> | *[[Karyotyping]]: a process by which chromosomes are identified and sorted<ref name="pmid25650937">{{cite journal| author=Shemilt L, Verbanis E, Schwenke J, Estandarte AK, Xiong G, Harder R | display-authors=etal| title=Karyotyping human chromosomes by optical and X-ray ptychography methods. | journal=Biophys J | year= 2015 | volume= 108 | issue= 3 | pages= 706-13 | pmid=25650937 | doi=10.1016/j.bpj.2014.11.3456 | pmc=4317545 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25650937 }}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
|+Screening based on Trimesters <ref name="“CDC”">{{cite web|url=https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html}}</ref> | |+Screening based on Trimesters<ref name="“CDC”">{{cite web|url=https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html}}</ref> | ||
![[Trimester]] | ![[Trimester]] | ||
!Optimal time to screen | !Optimal time to screen | ||
Latest revision as of 01:31, 7 August 2022
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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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Case Studies |
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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 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]
| Trimester | Optimal time to screen | Screening Methods |
|---|---|---|
| First | 11-13 weeks |
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| Second | 15-20 weeks |
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Methods to evaluate CDH postnatally
In addition to the commonly utilized methods mentioned above, evaluation can be done via:
- Standard cytogenetic testing
- Serial single-gene testing
- Multigene panel
- Comprehensive genomic testing
- Exome sequencing
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)