Congenital diaphragmatic hernia laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
Due to the fact that it is an anatomical defect, CDH is primarily diagnosed using screening modalities. Lab values may be deranged in correlation with underlying genetic defects. Due to the respiratory complications, [[arterial blood gases]] may also be deranged, indicating an underlying [[respiratory acidosis]]. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
* [[Arterial blood gases|ABGs]]: [[Respiratory Acidosis]] | |||
{| class="wikitable" | |||
|+Lab Values of Associated Syndrome | |||
!Syndrome | |||
!Abnormal Values | |||
|- | |||
|[[Trisomy 13]] <ref name="pmid267251442">{{cite journal| author=Rink BD, Norton ME| title=Screening for fetal aneuploidy. | journal=Semin Perinatol | year= 2016 | volume= 40 | issue= 1 | pages= 35-43 | pmid=26725144 | doi=10.1053/j.semperi.2015.11.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26725144 }}</ref> | |||
| | |||
* First Trimester: low [[hCG]], low [[PAPP-A]] | |||
|- | |||
|[[Trisomy 18]] <ref name="pmid1833973">{{cite journal| author=Staples AJ, Robertson EF, Ranieri E, Ryall RG, Haan EA| title=A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome. | journal=Am J Hum Genet | year= 1991 | volume= 49 | issue= 5 | pages= 1025-33 | pmid=1833973 | doi= | pmc=1683263 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1833973 }}</ref> | |||
| | |||
* First Trimester: low [[hCG]], low [[PAPP-A]] | |||
* Second Trimester: low [[hCG]], low [[estriol]], low [[Inhibin A]], low [[PAPP-A]] | |||
|- | |||
|[[Trisomy 21]] <ref name="pmid32029743">{{cite journal| author=Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW | display-authors=etal| title=Down syndrome. | journal=Nat Rev Dis Primers | year= 2020 | volume= 6 | issue= 1 | pages= 9 | pmid=32029743 | doi=10.1038/s41572-019-0143-7 | pmc=8428796 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32029743 }}</ref> | |||
| | |||
* First Trimester: high [[hCG]], low [[PAPP-A]] | |||
* Second Trimester: high [[hCG]], low [[estriol]], high [[Inhibin A]], low [[PAPP-A]] | |||
|- | |||
|[[Turner syndrome]] <ref name="pmid30560013">{{cite journal| author=Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J| title=A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. | journal=Intractable Rare Dis Res | year= 2018 | volume= 7 | issue= 4 | pages= 223-228 | pmid=30560013 | doi=10.5582/irdr.2017.01056 | pmc=6290843 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30560013 }}</ref> | |||
| | |||
* low [[estrogen]] | |||
* high [[Luteinizing hormone|LH]] | |||
* high [[FSH]] | |||
|} | |||
<br /> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 08:50, 24 April 2022
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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
Due to the fact that it is an anatomical defect, CDH is primarily diagnosed using screening modalities. Lab values may be deranged in correlation with underlying genetic defects. Due to the respiratory complications, arterial blood gases may also be deranged, indicating an underlying respiratory acidosis.
Laboratory Findings
| Syndrome | Abnormal Values |
|---|---|
| Trisomy 13 [1] | |
| Trisomy 18 [2] | |
| Trisomy 21 [3] | |
| Turner syndrome [4] |
References
- ↑ Rink BD, Norton ME (2016). "Screening for fetal aneuploidy". Semin Perinatol. 40 (1): 35–43. doi:10.1053/j.semperi.2015.11.006. PMID 26725144.
- ↑ Staples AJ, Robertson EF, Ranieri E, Ryall RG, Haan EA (1991). "A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome". Am J Hum Genet. 49 (5): 1025–33. PMC 1683263. PMID 1833973.
- ↑ Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW; et al. (2020). "Down syndrome". Nat Rev Dis Primers. 6 (1): 9. doi:10.1038/s41572-019-0143-7. PMC 8428796 Check
|pmc=value (help). PMID 32029743 Check|pmid=value (help). - ↑ Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J (2018). "A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment". Intractable Rare Dis Res. 7 (4): 223–228. doi:10.5582/irdr.2017.01056. PMC 6290843. PMID 30560013.