Congenital diaphragmatic hernia laboratory findings

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 abnormal, indicating an underlying respiratory acidosis.

Laboratory Findings

ABGs: Respiratory Acidosis

Lab Values of Associated Syndrome
Syndrome	Abnormal Values
Trisomy 13^[1]	First Trimester: low hCG, low PAPP-A
Trisomy 18^[2]	First Trimester: low hCG, low PAPP-A Second Trimester: low hCG, low estriol, low Inhibin A, low PAPP-A
Trisomy 21^[3]	First Trimester: high hCG, low PAPP-A Second Trimester: high hCG, low estriol, high Inhibin A, low PAPP-A
Turner syndrome^[4]	Low estrogen High LH High FSH

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.

[pmid267251442-1] 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.

[pmid1833973-2] 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.

[pmid32029743-3] 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).

[pmid30560013-4] 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.

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