Congenital diaphragmatic hernia screening: Difference between revisions
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*[[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> | ||
=== Methods to evaluate CDH postnatally === | {| class="wikitable" | ||
|+Screening based on Trimesters <ref name="“CDC”">{{cite web|url=https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html}}</ref> | |||
!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|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 there commonly utilized methods mentioned above, evaluation can be done via: | In addition to there commonly utilized methods mentioned above, evaluation can be done via: | ||
* [[Standard cytogenetic testing]] | *[[Standard cytogenetic testing]] | ||
* [[Serial single-gene testing]] | *[[Serial single-gene testing]] | ||
* | *[[Multigene panel]] | ||
* [[Comprehensive genomic testing]] | *[[Comprehensive genomic testing]] | ||
* [[Exome sequencing]] | *[[Exome sequencing]] | ||
==References== | ==References== | ||
Revision as of 07:47, 24 April 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 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
- Karyotyping: a process by which chromosomes are identified and sorted [3]
| 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:
- 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)