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Fetal pleural effusion

MedGen UID:
759277
Concept ID:
C3532164
Pathologic Function
SNOMED CT: Fetal pleural effusion (462163003)
 
HPO: HP:0025676

Definition

Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal pleural effusion

Conditions with this feature

Hemolytic disease of fetus and newborn, RH-induced
MedGen UID:
1789316
Concept ID:
C0748400
Disease or Syndrome
Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group (111690) have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells (summary by Urbaniak and Greiss, 2000).
Noonan syndrome 2
MedGen UID:
344290
Concept ID:
C1854469
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Fetal akinesia deformation sequence 4
MedGen UID:
1675450
Concept ID:
C4760578
Disease or Syndrome
Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.
Lymphatic malformation 12
MedGen UID:
1823976
Concept ID:
C5774203
Disease or Syndrome
Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).
Combined oxidative phosphorylation deficiency 57
MedGen UID:
1824048
Concept ID:
C5774275
Disease or Syndrome
Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Lymphatic malformation 13
MedGen UID:
1840915
Concept ID:
C5830279
Disease or Syndrome
Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.

Professional guidelines

PubMed

Weissbach T, Kushnir A, Rasslan R, Rosenblatt O, Yinon Y, Berkenstadt M, Weisz B, Mazaki Tovi S, Kassif E
Prenat Diagn 2019 Aug;39(9):751-757. Epub 2019 Jul 16 doi: 10.1002/pd.5497. PMID: 31169934
Shamshirsaz AA, Erfani H, Aalipour S, Shah SC, Nassr AA, Stewart KA, Rezaei A, Sanz Cortes M, Espinoza J, Belfort MA
Prenat Diagn 2019 May;39(6):484-488. Epub 2019 May 9 doi: 10.1002/pd.5462. PMID: 31009092
Kuo YL, Chan TF
Taiwan J Obstet Gynecol 2012 Jun;51(2):303-4. doi: 10.1016/j.tjog.2012.04.028. PMID: 22795117

Recent clinical studies

Etiology

Wu WJ, Ma GC, Chang TY, Lee MH, Lin WH, Chen M
Ultrasound Obstet Gynecol 2024 Apr;63(4):536-543. doi: 10.1002/uog.27501. PMID: 37767652
Tan APP, Tan B, Wright A, Kong JY
BMJ Case Rep 2023 Sep 27;16(9) doi: 10.1136/bcr-2023-255760. PMID: 37758657Free PMC Article
Chung MY, Leung WC, Tse WT, Ting YH, Law KM, Hui ASY, Wah YM, Lam HS, Poon LCY, Leung TY
Fetal Diagn Ther 2021;48(6):440-447. Epub 2021 Jun 2 doi: 10.1159/000515849. PMID: 34077935
Weissbach T, Kushnir A, Rasslan R, Rosenblatt O, Yinon Y, Berkenstadt M, Weisz B, Mazaki Tovi S, Kassif E
Prenat Diagn 2019 Aug;39(9):751-757. Epub 2019 Jul 16 doi: 10.1002/pd.5497. PMID: 31169934
Shamshirsaz AA, Erfani H, Aalipour S, Shah SC, Nassr AA, Stewart KA, Rezaei A, Sanz Cortes M, Espinoza J, Belfort MA
Prenat Diagn 2019 May;39(6):484-488. Epub 2019 May 9 doi: 10.1002/pd.5462. PMID: 31009092

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2024 Mar;63(2):174-177. doi: 10.1016/j.tjog.2024.01.011. PMID: 38485311
Chen CP
Taiwan J Obstet Gynecol 2024 Mar;63(2):168-173. doi: 10.1016/j.tjog.2024.01.010. PMID: 38485310
Chen CP
Taiwan J Obstet Gynecol 2024 Mar;63(2):165-167. doi: 10.1016/j.tjog.2024.01.009. PMID: 38485309
Shamshirsaz AA, Erfani H, Aalipour S, Shah SC, Nassr AA, Stewart KA, Rezaei A, Sanz Cortes M, Espinoza J, Belfort MA
Prenat Diagn 2019 May;39(6):484-488. Epub 2019 May 9 doi: 10.1002/pd.5462. PMID: 31009092
Rustico MA, Lanna M, Coviello D, Smoleniec J, Nicolini U
Prenat Diagn 2007 Sep;27(9):793-9. doi: 10.1002/pd.1768. PMID: 17602440

Therapy

Takahashi Y, Sago H, Ishii K, Murakoshi T, Murotsuki J, Nakata M
J Obstet Gynaecol Res 2019 Feb;45(2):251-257. Epub 2018 Sep 6 doi: 10.1111/jog.13804. PMID: 30191631
Witlox RSGM, Lopriore E, Rijken M, Klumper FJCM, Oepkes D, van Klink JMM
Fetal Diagn Ther 2019;45(3):162-167. Epub 2018 May 7 doi: 10.1159/000488486. PMID: 29734144Free PMC Article
Takahashi Y, Kawabata I, Sumie M, Nakata M, Ishii K, Murakoshi T, Katsuragi S, Ikeda T, Saito M, Kawamoto H, Hayashi S, Sago H
Prenat Diagn 2012 Dec;32(13):1282-7. Epub 2012 Nov 8 doi: 10.1002/pd.3994. PMID: 23138652
Wittman BK, Martin KA, Wilson RD, Peacock D
Am J Perinatol 1997 Sep;14(8):443-7. doi: 10.1055/s-2007-994177. PMID: 9376003
Murray HG, Stone PR, Strand L, Flower J
Br J Obstet Gynaecol 1993 Mar;100(3):277-9. doi: 10.1111/j.1471-0528.1993.tb15243.x. PMID: 8476835

Prognosis

Takita H, Matsuoka R, Goto M, Tokunaka M, Arakaki T, Nakamura M, Sekizawa A
J Clin Ultrasound 2022 Jul;50(6):805-809. Epub 2022 Apr 8 doi: 10.1002/jcu.23196. PMID: 35394680
Weissbach T, Kushnir A, Rasslan R, Rosenblatt O, Yinon Y, Berkenstadt M, Weisz B, Mazaki Tovi S, Kassif E
Prenat Diagn 2019 Aug;39(9):751-757. Epub 2019 Jul 16 doi: 10.1002/pd.5497. PMID: 31169934
Shamshirsaz AA, Erfani H, Aalipour S, Shah SC, Nassr AA, Stewart KA, Rezaei A, Sanz Cortes M, Espinoza J, Belfort MA
Prenat Diagn 2019 May;39(6):484-488. Epub 2019 May 9 doi: 10.1002/pd.5462. PMID: 31009092
Jeong BD, Won HS, Lee MY, Shim JY, Lee PR, Kim A
Prenat Diagn 2015 Dec;35(13):1365-70. Epub 2015 Nov 19 doi: 10.1002/pd.4709. PMID: 26479499
Rustico MA, Lanna M, Coviello D, Smoleniec J, Nicolini U
Prenat Diagn 2007 Sep;27(9):793-9. doi: 10.1002/pd.1768. PMID: 17602440

Clinical prediction guides

Szewczuk O, Szewczuk W, Walędziak M, Różańska-Walędziak A
Eur J Obstet Gynecol Reprod Biol 2024 Aug;299:193-198. Epub 2024 Jun 12 doi: 10.1016/j.ejogrb.2024.06.024. PMID: 38885560
Wu WJ, Ma GC, Chang TY, Lee MH, Lin WH, Chen M
Ultrasound Obstet Gynecol 2024 Apr;63(4):536-543. doi: 10.1002/uog.27501. PMID: 37767652
Imai K, Kotani T, Tsuda H, Kobayashi T, Ushida T, Moriyama Y, Kikkawa F
Cytokine 2020 Mar;127:154945. Epub 2019 Dec 2 doi: 10.1016/j.cyto.2019.154945. PMID: 31805478
Weissbach T, Kushnir A, Rasslan R, Rosenblatt O, Yinon Y, Berkenstadt M, Weisz B, Mazaki Tovi S, Kassif E
Prenat Diagn 2019 Aug;39(9):751-757. Epub 2019 Jul 16 doi: 10.1002/pd.5497. PMID: 31169934
Vosatka RJ, Brown G, Moffitt ST
Prenat Diagn 1993 Dec;13(12):1139-41. doi: 10.1002/pd.1970131209. PMID: 8177833

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