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==Hydrops Fetalis==
 
==Overview==
Hydrops Fetalis indicates an excessive accumulation of interstitial fluid in [[extravascular]] [[compartments]] and body cavities which is characterized by generalized skin [[edema]], [[ascites]], [[pleura]]l, or [[pericardial effusion]], and [[placenta]]l enlargement. It may be classified into two groups based on the presence or absence of [[rhesus]] iso-[[immunization]]. Although [[Rh disease]] is the major cause of immune-mediated hydrops fetalis, with the decreased [[prevalence]] of Rh disease, non-immune causes (eg, [[cardiovascular diseases]], [[chromosomal abnormalities]], [[lymphatic]] anomalies, [[hematologic]] diseases, etc.) are responsible in the majority of cases. Screening for [[Rh(D)]] incompatibility by Rh(D) blood typing and [[antibody]] testing are strongly recommended for all pregnant women during their first visit for pregnancy-related care. Also repeated Rh(D) [[antibody]] testing for all unsensitized Rh(D)-negative women at 24 to 28 weeks [[gestation]] is recommended, unless the biological father is known to be Rh(D) negative. Prognosis is generally poor, and the mortality rate of patients with non-immune hydrops fetalis (NIHF) is approximately 43.2% at 1 year of age, and the presence of either [[large birth weight]], [[polyhydramnious]], or [[prematurity]] are associated with a particularly poor [[prognosis]] among patients. to be continued...
 
==Historical Perspective==
Hydrops fetalis was first discovered by Dr. John William Ballantyne, a Scottish physician and [[obstetrician]], in 1892.
 
==Classification==
Hydrops Fetalis may be classified into two groups based on the presence or absence of [[rhesus]] iso-[[immunization]]:
 
*'''Immune Hydrops Fetalis'''
*'''Non-Immune Hydrops Fetalis (NIHF)'''
 
==Pathophysiology==
It is thought that hydrops fetalis is caused by conditions with either increased rate of fluid transudation from the [[vascular]] compartment or decreased [[lymphatic]] return to the [[circulation]].
*This is shown to be originated from [[developmental]] defects in [[microcirculation]] and [[lymphatic system]], respectively.<ref name="pmid33085361">{{cite journal |vauthors=Vanaparthy R, Mahdy H |title= |journal= |volume= |issue= |pages= |date= |pmid=33085361 |doi= |url=}}</ref>
*The potential causes may be [[immune]] or non-immune, and they often result in [[anemia]] and further [[hypoxia]].
*The [[sympathetic system]] becomes activated due to [[hypoxia]], and it causes [[blood redistribution]] with decreased blood flow to the [[liver]] and [[kidneys]].
*Decreased [[blood flow]] to the [[liver]] and [[kidneys]], results in decreased [[albumin]], increased [[ADH]], and increased activity of [[RAAS]].
*Following these changes, the [[central venous pressure]] increases, which further results in decreased [[lymphatic]] return.
*As a result, hydrops fetalis (the accumulation of fluid, or [[edema]], in at least two [[fetal]] compartments)<ref name="pmid30124157">{{cite journal| author=Kontomanolis EN, Fasoulakis Z| title=Hydrops Fetalis and THE Parvovirus B-19. | journal=Curr Pediatr Rev | year= 2018 | volume= 14 | issue= 4 | pages= 239-252 | pmid=30124157 | doi=10.2174/1573396314666180820154340 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30124157  }} </ref> occurs.
*The [[pathophysiology]] of non-immune causes also depend on the underlying conditions, include:
**Decreased [[ventricular filling]] during [[diastole]] (i.e. [[tachyarrhythmias]])
**Increased [[central venous pressure]] due to the increased right heart pressure (i.e. [[cardiac tumors]] and subendocardial fibroelastosis)
**Obstruction of [[lymphatic drainage]] due to a mass (i.e. [[cystic hygroma]])
 
==Causes==
Hydrops Fetalis is caused by either immune or non-immune conditions.
 
*'''Immune hydrops fetalis'''
**[[Antibodies]] may occur due to the exposure to non-self [[RBC]] [[antigens]] during the previous [[pregnancy]] or [[transfusion]].
**In the next [[pregnancy]], these [[antibodies]] may attack the [[fetal]] [[erythrocytes]] if the [[fetus]] has that [[antigen]].
**Following the [[red blood cell]] destruction, [[hemolytic disease]] of the fetus and newborn (HDFN) may occur with a wide range of clinical outcome from only mild [[anemia]] to high output [[heart failure]] and hydrops fetalis.<ref name="pmid16041667">{{cite journal |vauthors=Moise KJ |title=Red blood cell alloimmunization in pregnancy |journal=Semin Hematol |volume=42 |issue=3 |pages=169–78 |date=July 2005 |pmid=16041667 |doi=10.1053/j.seminhematol.2005.04.007 |url=}}</ref>
***[[Rh disease]] is the major cause of immune-mediated hydrops fetalis; however, owing to preventative methods developed in the 1970s, the [[incidence]] of [[Rh disease]] has markedly declined.
***[[Rh disease]] can be prevented by the administration of anti-D IgG (Rho (D) Immune Globulin) injections to RhD-negative mothers during [[pregnancy]] and/or within 72 hours of the delivery.
***[[ABO]] incompatibility usually occurs asymptomatic without any clinically significant outcomes. However, it may rarely cause [[hemolytic disease]] of the [[fetus]] and [[newborn]] (HDFN) which may further results in hydrops fetalis.<ref name="pmid3349731">{{cite journal| author=Gilja BK, Shah VP| title=Hydrops fetalis due to ABO incompatibility. | journal=Clin Pediatr (Phila) | year= 1988 | volume= 27 | issue= 4 | pages= 210-2 | pmid=3349731 | doi=10.1177/000992288802700408 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3349731  }} </ref>
*'''Non-immune hydrops fetalis (NIHF)'''
**Currently, with the decreased [[prevalence]] of Rh disease, non-immune causes are responsible in the majority of cases.
**The most common causes of non-immune hydrops fetalis are [[cardiovascular diseases]], [[chromosomal abnormalities]], [[lymphatic]] anomalies, and [[hematologic]] diseases. Causes of NIHF include:<ref name="pmid25712632">{{cite journal |vauthors=Bellini C, Donarini G, Paladini D, Calevo MG, Bellini T, Ramenghi LA, Hennekam RC |title=Etiology of non-immune hydrops fetalis: An update |journal=Am J Med Genet A |volume=167A |issue=5 |pages=1082–8 |date=May 2015 |pmid=25712632 |doi=10.1002/ajmg.a.36988 |url=}}</ref><ref name="pmid22302731">{{cite journal |vauthors=Bellini C, Hennekam RC |title=Non-immune hydrops fetalis: a short review of etiology and pathophysiology |journal=Am J Med Genet A |volume=158A |issue=3 |pages=597–605 |date=March 2012 |pmid=22302731 |doi=10.1002/ajmg.a.34438 |url=}}</ref>
***Structural cardiac malformations (especially hypoplastic left heart, [[endocardial cushion defect]])
***[[Arrhythmias]]
***Congenital lymphatic dysplasia
***[[Chromosomal abnormalities]] ([[Turner Syndrome]], [[trisomy 13]], [[trisomy 18]], [[trisomy 21]])
***[[Alpha-thalassemia]]
***Fetomaternal [[transfusion]]
***[[Infections]] ([[Parvovirus]]-B19, [[CMV]], [[Adenovirus]], [[Enterovirus]])
***Twin to twin transfusion syndrome (both [[donor]] and recipient [[fetus]])
***Congenital cystic adenomatoid malformation
***[[Diaphragmatic hernia]]
***Extrapulmonary sequestration
***[[Hydrothorax]]
***[[Chylothorax]]
***[[Noonan Syndrome]]
***Urethral Obstruction
***[[Prune belly syndrome]]
***[[Lysosomal storage diseases]]
***[[Vascular tumors]]
***Teratoma
***[[Leukemia]]
***Hepatic tumors
***[[Neuroblastoma]]
***[[Meconium peritonitis]]
***Gastrointestinal obstructions
**Approximately 20% of the NIHF cases are [[idiopathic]].
 
==Differential Diagnosis==
*Hydrops Fetalis must be differentiated from other diseases that cause generalized skin [[edema]], [[ascites]], [[pleura]]l, or [[pericardial effusion]], [[placenta]]l enlargement, such as Mirror (Ballantyne) syndrome.
*However, Mirror (Ballantyne) syndrome is also characterized by maternal [[edema]] (the mother mirrors the [[edema]] present in the [[fetus]]), [[proteinuria]], and [[hypertension]].<ref name="pmid30614331">{{cite journal| author=Hobson SR, Wallace EM, Chan YF, Edwards AG, Teoh MWT, Khaw AP| title=Mirroring preeclampsia: the molecular basis of Ballantyne syndrome. | journal=J Matern Fetal Neonatal Med | year= 2020 | volume= 33 | issue= 5 | pages= 768-773 | pmid=30614331 | doi=10.1080/14767058.2018.1500550 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30614331  }} </ref>
*Hydrops fetalis must also be differentiated from other conditions that cause [[ascites]] such as [[portal hypertension]]. In hydrops fetalis, the serum ascites albumin gradient ([[SAAG]]) ratio should be less than 11 g/L (indicates that the etiology is not related to [[portal hypertension]]).<ref name="pmid33085361">{{cite journal |vauthors=Vanaparthy R, Mahdy H |title= |journal= |volume= |issue= |pages= |date= |pmid=33085361 |doi= |url=}}</ref>
 
==Epidemiology and Demographics==
*In developed countries, the [[incidence]] of non-immune hydrops fetalis (NIHF) is 25-79 per 100.000 live born [[infants]] worldwide.<ref name="MengLi2019">{{cite journal|last1=Meng|first1=Dahua|last2=Li|first2=Qifei|last3=Hu|first3=Xuehua|last4=Wang|first4=Lifang|last5=Tan|first5=Shuyin|last6=Su|first6=Jiasun|last7=Zhang|first7=Yue|last8=Sun|first8=Weijia|last9=Chen|first9=Biyan|last10=He|first10=Sheng|last11=Lin|first11=Fei|last12=Xie|first12=Bobo|last13=Chen|first13=Shaoke|last14=Agrawal|first14=Pankaj B.|last15=Luo|first15=Shiyu|last16=Fu|first16=Chunyun|title=Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases|journal=Scientific Reports|volume=9|issue=1|year=2019|issn=2045-2322|doi=10.1038/s41598-019-47050-6}}</ref><ref name="pmid28533037">{{cite journal |vauthors=Steurer MA, Peyvandi S, Baer RJ, MacKenzie T, Li BC, Norton ME, Jelliffe-Pawlowski LL, Moon-Grady AJ |title=Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset |journal=J Pediatr |volume=187 |issue= |pages=182–188.e3 |date=August 2017 |pmid=28533037 |doi=10.1016/j.jpeds.2017.04.025 |url=}}</ref>
*The [[median]] [[gestational age]] (GA) at [[diagnosis]] of NIHF is 23 weeks.
 
==Risk Factors==
[[Maternal]] risk factors in the development of non-immune hydrops fetalis (NIHF) include:<ref name="pmid28533037">{{cite journal |vauthors=Steurer MA, Peyvandi S, Baer RJ, MacKenzie T, Li BC, Norton ME, Jelliffe-Pawlowski LL, Moon-Grady AJ |title=Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset |journal=J Pediatr |volume=187 |issue= |pages=182–188.e3 |date=August 2017 |pmid=28533037 |doi=10.1016/j.jpeds.2017.04.025 |url=}}</ref>
 
*Multiple [[gestation]]
*Preexisting maternal [[diabetes]]
*[[Mental illness]]
*[[Illicit drug use]]
*[[Preeclampsia]]
 
==Screening==
*According to the U.S. Preventive Services Task Force (USPSTF), screening for [[Rh(D)]] incompatibility by Rh(D) blood typing and [[antibody]] testing are strongly recommended for all pregnant women during their first visit for pregnancy-related care.
*The USPSTF recommends repeated Rh(D) [[antibody]] testing for all unsensitized Rh(D)-negative women at 24 to 28 weeks [[gestation]], unless the biological father is known to be Rh(D) negative.<ref name="urlScreening for Rh(D) Incompatibility: Recommended Statement - U.S. Preventive Services Task Force - American Family Physician">{{cite web |url=https://www.aafp.org/afp/2005/0915/p1087.html#:~:text=The%20USPSTF%20recommends%20repeated%20Rh,be%20Rh(D)%20negative. |title=Screening for Rh(D) Incompatibility: Recommended Statement - U.S. Preventive Services Task Force - American Family Physician |format= |work= |accessdate=}}</ref>
 
==Natural History, Complications, and Prognosis==
*Without treatment or termination of pregnancy, the patient will develop conditions of [[neonatal]] [[asphyxia]], skin [[edema]], [[pleural effusion]], [[ascites]], [[polyhydramnios]], or multiple [[malformations]], which may eventually lead to [[intrauterine]] fetal death or [[neonatal]] death.<ref name="pmid26070120">{{cite journal| author=An X, Wang J, Zhuang X, Dai J, Lu C, Li X | display-authors=etal| title=Clinical Features of Neonates with Hydrops Fetalis. | journal=Am J Perinatol | year= 2015 | volume= 32 | issue= 13 | pages= 1231-9 | pmid=26070120 | doi=10.1055/s-0035-1552934 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26070120  }} </ref>
*Patients rarely survive after the [[neonatal]] period, and some of those patients who survive, die at 1 year of age.<ref name="pmid28611934">{{cite journal| author=He S, Wang L, Pan P, Wei H, Meng D, Du J | display-authors=etal| title=Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China. | journal=AJP Rep | year= 2017 | volume= 7 | issue= 2 | pages= e111-e115 | pmid=28611934 | doi=10.1055/s-0037-1603890 | pmc=5468117 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28611934  }} </ref>
*Approximately 68% of patients who survive after 1 year of age, have normal development. However, rest of those patients have [[developmental delay]], [[mental retardation]], and [[psychomotor retardation]] with marked [[growth failure]] in long-term follow-up.<ref name="pmid10090542">{{cite journal| author=Nakayama H, Kukita J, Hikino S, Nakano H, Hara T| title=Long-term outcome of 51 liveborn neonates with non-immune hydrops fetalis. | journal=Acta Paediatr | year= 1999 | volume= 88 | issue= 1 | pages= 24-8 | pmid=10090542 | doi=10.1080/08035259950170547 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10090542  }} </ref>
*Prognosis is generally poor, and the mortality rate of patients with non-immune hydrops fetalis (NIHF) is approximately 43.2% at 1 year of age.<ref name="pmid28533037">{{cite journal |vauthors=Steurer MA, Peyvandi S, Baer RJ, MacKenzie T, Li BC, Norton ME, Jelliffe-Pawlowski LL, Moon-Grady AJ |title=Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset |journal=J Pediatr |volume=187 |issue= |pages=182–188.e3 |date=August 2017 |pmid=28533037 |doi=10.1016/j.jpeds.2017.04.025 |url=}}</ref>
**Deaths usually occur in the [[neonatal]] period.
**The cause of deaths after the [[neonatal]] period are usually underlying disease rather than hydrops fetalis itself.
**[[Gestational age]] is predictive of [[mortality]], as [[preterm]] [[infants]] with this condition are more likely to die.
**The presence of either [[large birth weight]], [[polyhydramnious]], or [[prematurity]] are associated with a particularly poor [[prognosis]] among patients.
 
==Diagnosis==
 
===Diagnostic Study of Choice===
There are no established criteria for the diagnosis of hydrops fetalis.
 
===History and Symptoms===
The hallmark of hydrops fetalis is an abnormal accumulation of fluid within the [[fetal]] body [[compartment]]s. History and symptoms may differ among patients based on the etiology.
*A positive history of Rh(D) incompatibility is suggestive of [[immune]] hydrops fetalis.
 
===Physical Examination===
The physical examination findings in the [[neonatal]] period may indicate the underlying diseases.
*The presence of [[cyanosis]] on physical examination and resistance to [[oxygen]] supplementation is highly suggestive of [[cardiac]] diseases.
*The presence of [[hypotonia]] on physical examination is highly suggestive of [[congenital]] [[myopathy]] and [[congenital hypothyroidism]].
*Common physical examination findings of [[lysosomal storage diseases]] include [[hypotonia]], [[facial dysmorphism]], [[hepatomegaly]], and [[cardiomyopathy]].<ref name="pmid33085361">{{cite journal |vauthors=Vanaparthy R, Mahdy H |title= |journal= |volume= |issue= |pages= |date= |pmid=33085361 |doi= |url=}}</ref>
*Common physical examination findings of [[TORCH]] infections include [[hepatomegaly]], [[petechia]]/[[purpura]], and [[chorioretinitis]].<ref name="pmid25677998">Neu N, Duchon J, Zachariah P (2015) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=25677998 TORCH infections.] ''Clin Perinatol'' 42 (1):77-103, viii. [http://dx.doi.org/10.1016/j.clp.2014.11.001 DOI:10.1016/j.clp.2014.11.001] PMID: [https://pubmed.gov/25677998 25677998]</ref>
 
===Laboratory Findings===
*Hydrops Fetalis may be caused by maternal [[TORCH]] infections, and [[parvovirus B19]] [[infection]], therefore, [[antibodies]] against these infections should be checked.<ref name="pmid33085361">{{cite journal |vauthors=Vanaparthy R, Mahdy H |title= |journal= |volume= |issue= |pages= |date= |pmid=33085361 |doi= |url=}}</ref>
*[[Sjögren syndrome]] may cause hydrops fetalis with [[complete heart block]]s and bradyarrhythmias, therefore, [[Anti-SS-A]]/SS-B antibodies should be considered in suspected cases.
*An elevated concentration of [[alpha-fetoprotein]] (AFP) may suggest fetomaternal hemorrhage, which may result in hydrops fetalis.
*Immune hydrops fetalis can be detected by direct and indirect [[coombs test]].
*[[Thyroid hormone]] levels, [[complete blood count]], and [[metabolic panel]] also should be checked in the [[neonatal]] period.
 
===Electrocardiogram===
*A [[fetal]] [[ECG]] (fECG) may be helpful in the diagnosis of fetal [[arrythmias]]. Fetal ECG may show [[premature contractions]], [[tachyarrhythmias]], and [[bradyarrhythmias]].<ref name="pmid30576831">Yuan SM (2019) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=30576831 Fetal arrhythmias: Surveillance and management.] ''Hellenic J Cardiol'' 60 (2):72-81. [http://dx.doi.org/10.1016/j.hjc.2018.12.003 DOI:10.1016/j.hjc.2018.12.003] PMID: [https://pubmed.gov/30576831 30576831]</ref>
*Duration of [[tacyhcardia]] positively correlated with the presence of hydrops fetalis.<ref name="pmid8636562">{{cite journal| author=Naheed ZJ, Strasburger JF, Deal BJ, Benson DW, Gidding SS| title=Fetal tachycardia: mechanisms and predictors of hydrops fetalis. | journal=J Am Coll Cardiol | year= 1996 | volume= 27 | issue= 7 | pages= 1736-40 | pmid=8636562 | doi=10.1016/0735-1097(96)00054-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8636562  }} </ref>
 
===Ultrasound===
[[File:Ultrasound Scan ND 373.jpg|thumb|right|An ultrasound showing a fetus with hydrops fetalis]]
[[File:Cystic-hygroma-with-hydrops-fetalis.jpg|thumb|right|An ultrasound showing a fetus with cystic hygroma and hydrops fetalis. Arrows pointing to bilateral pleural effusion]]
*[[Ultrasound]] may be helpful in the diagnosis of hydrops fetalis. Findings on ultrasound suggestive of hydrops fetalis include:<ref name="pmid9509544">{{cite journal| author=Jauniaux E| title=Diagnosis and management of early non-immune hydrops fetalis. | journal=Prenat Diagn | year= 1997 | volume= 17 | issue= 13 | pages= 1261-8 | pmid=9509544 | doi=10.1002/(sici)1097-0223(199712)17:13<1261::aid-pd292>3.0.co;2-c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9509544  }} </ref>
**Increased [[skin]] thickness (indicative of generalized skin [[edema]]), most prominent in the [[fetal]] head and back of the neck. Also may be seen in the [[thorax]] and [[abdomen]]. It is usually the earliest finding.
**Increased [[placenta]]l thickness (indicative of placental [[edema]])
**[[Polyhydramnios]]
**[[Ascites]]
**[[Pleural effusion]]
**[[Pericardial effusion]]
***Generalized skin [[edema]], [[placenta]]l edema, [[polyhydramnios]], and [[ascites]] are usually seen in early pregnancy.
***[[Pleural effusion]] and [[pericardial effusion]] are findings seen later (rarely seen <15 weeks [[gestational age]]).
*Ultrasonography may detect [[structural heart diseases]], [[holoprosencephaly]], or [[omphalocele]]. These associated findings may indicate the [[etiology]] of hydrops fetalis and may help in the [[differential diagnosis]].
 
===Echocardiography===
*[[Fetal]] [[echocardiography]] may be helpful in the diagnosis of [[congenital heart diseases|structural heart diseases]], [[cardiomyopathies]], [[arrhythmias]], [[heart failure]], and other cardiac diseases. Thus, it may clarify the underlying [[etiology]] of non-immune hydrops fetalis (NIHF).<ref name="pmid31087399">{{cite journal |vauthors=Mardy AH, Chetty SP, Norton ME, Sparks TN |title=A system-based approach to the genetic etiologies of non-immune hydrops fetalis |journal=Prenat Diagn |volume=39 |issue=9 |pages=732–750 |date=August 2019 |pmid=31087399 |pmc=6699893 |doi=10.1002/pd.5479 |url=}}</ref>
 
===Genetic Testing===
*[[Genetic tests]] for non-immune hydrops fetalis include [[karyotype analysis]], which may demonstrate [[aneuploidy]], and [[chromosomal microarray analysis]] (CMA) which may further demonstrate [[copy number variants]] (CNVs), submicroscopic [[deletions]], and [[duplications]] (as small as 50 – 100 kb).<ref name="pmid31087399">{{cite journal |vauthors=Mardy AH, Chetty SP, Norton ME, Sparks TN |title=A system-based approach to the genetic etiologies of non-immune hydrops fetalis |journal=Prenat Diagn |volume=39 |issue=9 |pages=732–750 |date=August 2019 |pmid=31087399 |pmc=6699893 |doi=10.1002/pd.5479 |url=}}</ref>
*Even after applying these [[genetic tests]], half of the underlying etiology of NIHF remains unclear.
*A more detailed and broader genetic test, [[whole exam sequencing]] (WES), may be helpful in the diagnosis of NIHF.<ref name="pmid33027564">{{cite journal| author=Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J | display-authors=etal| title=Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. | journal=N Engl J Med | year= 2020 | volume= 383 | issue= 18 | pages= 1746-1756 | pmid=33027564 | doi=10.1056/NEJMoa2023643 | pmc=7650529 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33027564  }} </ref>
**Underlying etiologies of NIHF which can be detected by [[whole exam sequencing]] include RASopathies (disorders of [[RAS–MAPK]] cell-signaling pathway), [[inborn errors of metabolism]], [[musculoskeletal]], [[lymphatic]], [[cardiovascular]], [[neurologic]], [[hematologic]] disorders, and others.
**Approximately one-third of NIHF disorders with unclear etiology, [[Whole exam sequencing]] (WES) is shown to detect a possible genetic cause.
 
===Other Diagnostic Studies===
*Other diagnostic studies for hydrops fetalis include [[chorionic villous sampling]] (CVS), which may demonstrate [[chromosomal abnormalities]] or Hb [[Barts]] disease.<ref name="pmid33085361">{{cite journal |vauthors=Vanaparthy R, Mahdy H |title= |journal= |volume= |issue= |pages= |date= |pmid=33085361 |doi= |url=}}</ref>
 
==Treatment==
 
===Medical Therapy===
 
===Surgery===
 
===Primary Prevention===
 
===Secondary Prevention===
 
 
 
==References==
<br />

Latest revision as of 19:49, 5 May 2021

Hydrops Fetalis

Overview

Hydrops Fetalis indicates an excessive accumulation of interstitial fluid in extravascular compartments and body cavities which is characterized by generalized skin edema, ascites, pleural, or pericardial effusion, and placental enlargement. It may be classified into two groups based on the presence or absence of rhesus iso-immunization. Although Rh disease is the major cause of immune-mediated hydrops fetalis, with the decreased prevalence of Rh disease, non-immune causes (eg, cardiovascular diseases, chromosomal abnormalities, lymphatic anomalies, hematologic diseases, etc.) are responsible in the majority of cases. Screening for Rh(D) incompatibility by Rh(D) blood typing and antibody testing are strongly recommended for all pregnant women during their first visit for pregnancy-related care. Also repeated Rh(D) antibody testing for all unsensitized Rh(D)-negative women at 24 to 28 weeks gestation is recommended, unless the biological father is known to be Rh(D) negative. Prognosis is generally poor, and the mortality rate of patients with non-immune hydrops fetalis (NIHF) is approximately 43.2% at 1 year of age, and the presence of either large birth weight, polyhydramnious, or prematurity are associated with a particularly poor prognosis among patients. to be continued...

Historical Perspective

Hydrops fetalis was first discovered by Dr. John William Ballantyne, a Scottish physician and obstetrician, in 1892.

Classification

Hydrops Fetalis may be classified into two groups based on the presence or absence of rhesus iso-immunization:

  • Immune Hydrops Fetalis
  • Non-Immune Hydrops Fetalis (NIHF)

Pathophysiology

It is thought that hydrops fetalis is caused by conditions with either increased rate of fluid transudation from the vascular compartment or decreased lymphatic return to the circulation.

Causes

Hydrops Fetalis is caused by either immune or non-immune conditions.

Differential Diagnosis

Epidemiology and Demographics

Risk Factors

Maternal risk factors in the development of non-immune hydrops fetalis (NIHF) include:[9]

Screening

  • According to the U.S. Preventive Services Task Force (USPSTF), screening for Rh(D) incompatibility by Rh(D) blood typing and antibody testing are strongly recommended for all pregnant women during their first visit for pregnancy-related care.
  • The USPSTF recommends repeated Rh(D) antibody testing for all unsensitized Rh(D)-negative women at 24 to 28 weeks gestation, unless the biological father is known to be Rh(D) negative.[10]

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

There are no established criteria for the diagnosis of hydrops fetalis.

History and Symptoms

The hallmark of hydrops fetalis is an abnormal accumulation of fluid within the fetal body compartments. History and symptoms may differ among patients based on the etiology.

  • A positive history of Rh(D) incompatibility is suggestive of immune hydrops fetalis.

Physical Examination

The physical examination findings in the neonatal period may indicate the underlying diseases.

Laboratory Findings

Electrocardiogram

Ultrasound

An ultrasound showing a fetus with hydrops fetalis
An ultrasound showing a fetus with cystic hygroma and hydrops fetalis. Arrows pointing to bilateral pleural effusion

Echocardiography

Genetic Testing

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References


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