Idiopathic Hydrops Fetalis

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Means literally "Universal edema of the newborn" - Latin for "edema of the fetus"

There are two types of hydrops fetalis. The exact cause depends on which form a baby has.

Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling lympatic dysplasia, lymphedema. Severe swelling can interfere with how the body organs work.

Non-immune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner Syndrome.

Synonyms:

Idiopathic hydrops fetalis
Hydrops fetalis nonimmune
Familial non-immune hydrops fetalis

Frequency:

The best estimate for how common hydrops fetalis is in the United States is approximately 1 in 600 to 1 in 4000 pregnancies.

Symptoms:

Peripheral (all over body swelling) edema may be significant
Ascites, pleural and pericardial effusions frequently noted
Uneven distribution of excess fluid common
features noted in utero: polyhydramnios, thickened placenta (>6cm).
Bruising or purplish "Bruise-like" spots on the skin
Heart failure
Jaundice

Other symptoms can include excessive amniotic fluid, thick placenta, enlarged liver and/or spleen.

Diagnosis:

Diagnosis can be achieved in the womb through a standard diagnostic ultrasound. This will show if there is a high amount of amiontic fluid, any abnormality of the placenta and and swelling it the baby. If there are positive signs, then an amniocentesis may be performed.

Treatment:

Treatment may involve direct transfuions of packed red blood cells, small needle aspiration to remove any excess fluid from around the lung or abdomen. Other treatments would depend on the severity and focus on the other symptoms and/or complication.

Also, there should be a treatment program initiated to control the lymphedema in the arms and/or legs.

The articles below will go into greater detail on specific treatments on the base condition.

Prognosis:

50% of all cases diagnoses in utero result in fetal death
50% of all live born infants with nonimmune hydrops die
Exact prognosis depends on the underlying condition
- idiopathic - 20-25% survive the newborn period
- anemia that can be treated in utero or in the newborn period -- very good >90%
- structural cardiac disease with or without an arrhythmia -- very poor
- isolated arrhythmia -- >50% survival of live born infants
- Poor Prognosis associated with:
  - prematurity
  - pleural effusions
  - pulmonary hypoplasia
  - severe hydrops
  - chromosomal disorder
  - identification prior to 24w GA
  - structural malformation (1)

Pat O'Connor

May 28, 2008

===========================

Clinical Information and studies

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#236750	Links
HYDROPS FETALIS, IDIOPATHIC

Alternative titles; symbols

HYDROPS FETALIS, NONIMMUNE

TEXT

A number sign (#) is used with this entry because nonimmune hydrops fetalis is a feature of many genetic disorders and is therefore not strictly idiopathic. The genetic disorders include congenital anemias, such as homozygous alpha-thalassemia (141800, 141850) and congenital erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), beta-glucuronidase deficiency (253220), glycogen storage disease IV (232500), and carbohydrate-deficient glycoprotein syndrome type Ia (212065).

Hydrops fetalis is a descriptive term for generalized edema of the fetus with fluid accumulation in the body cavities. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic.

Idiopathic hydrops fetalis may represent about half of all cases of hydrops fetalis of nonimmunologic origin (i.e., not due to RH or other fetal maternal incompatibility). Schwartz et al. (1981) listed causes of nonimmunologic hydrops fetalis and reported 4 cases of the idiopathic form, including affected sisters, both stillborn. In a review of 47 series of unselected hydrops fetalis, totaling 804 cases, Machin (1989) found 179 in which the cause was not determined. A cardiovascular cause was found in 206. Tachyarrhythmia or bradyarrhythmia was responsible in 80 cases.

Njolstad et al. (1998) reported 3 sibs with nonimmune hydrops fetalis, diagnosed prenatally. Two also had congenital pulmonary lymphangiectasia (265300). The first affected baby died at 9 hours despite peritoneal and pleural drainage, transfusion, and intensive ventilatory support. The lungs were atelectatic with hyaline membranes without lymphangiectasia. The second child was found to be hydropic at 23 weeks of gestation. Chordocentesis, amniocentesis, and thoracal drainage were performed. In addition, the fetus was given 2 blood transfusions (there was, however, no anemia), albumin, and furosemide as a diuretic. Labor was induced at 34 weeks. There was no need for assisted ventilation. The baby had generalized subcutaneous edema and bilateral edema of the cornea. Pleural effusions and lymphedema of the legs persisted after disappearance of the generalized edema. Chest x-ray showed changes consistent with pulmonary lymphangiectasia. From early infancy, the patient suffered from frequent intercurrent upper airway infections with simultaneously increasing subcutaneous edema of the arms and face. She also had bilateral congenital glaucoma that was controlled by surgery and medical treatment. Her neurologic development was normal. The third pregnancy was again complicated by hydrops fetalis. Despite treatment similar to that used in the second pregnancy, intrauterine death occurred at 30 weeks. Pathologic changes diagnostic of pulmonary lymphangiectasia were found.

REFERENCES

1. Machin, G. A. :: Hydrops revisited: literature review of 1,414 cases published in the 1980s. Am. J. Med. Genet. 34: 366-390, 1989.
PubMed ID : 2688420
2. Njolstad, P. R.; Reigstad, H.; Westby, J.; Espeland, A. :: Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. Europ. J. Pediat. 157: 498-501, 1998.
PubMed ID : 9667408
3. Schwartz, S. M.; Viseskul, C.; Laxova, R.; McPherson, E. W.; Gilbert, E. F. :: Idiopathic hydrops fetalis: report of 4 patients including 2 affected sibs. Am. J. Med. Genet. 8: 59-66, 1981.
PubMed ID : 7018238

CONTRIBUTORS

Victor A. McKusick - updated : 7/29/2003
Victor A. McKusick - updated : 8/21/1998

CREATION DATE

Victor A. McKusick : 6/3/1986

EDIT HISTORY

carol : 7/29/2003
mcapotos : 1/31/2000
terry : 1/14/2000
carol : 8/24/1998
terry : 8/21/1998
mimadm : 2/19/1994
carol : 11/2/1993
supermim : 3/16/1992
supermim : 3/20/1990
supermim : 1/3/1990
ddp : 10/26/1989

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236750

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Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs.

Schwartz SM, Viseskul C, Laxova R, McPherson EW, Gilbert EF.

We report four patients with idiopathic hydrops fetalis (IHF), two being affected sibs; the latter represent the first reported familial occurrence. A review identified 45 additional cases that seem to represent 1/3 to 2/3 of all cases of hydrops fetalis of nonimmunologic origin (NIHF). Our patients and the other adequately documented cases permit delineation of "idiopathic" fetal hydrops; ie, that form of the condition which is not associated with any detectable fetal or maternal disorders. These fetuses are usually premature, often the product of a gestation complicated by pre-eclampsia, occasional maternal anemia, and most often polyhydramnios. The fetuses have striking edema of most tissues with effusions into serous cavities, but no other specific anatomic abnormalities. They are often hypoproteinemic, but not anemic and do not manifest signs of accelerated hematopoiesis. Results of fetal and maternal immunohematological examination are normal. Fetal mortality rates approach 100% but recent data suggest that salvage rates can be significantly improved with early diagnosis. This requires accurate diagnosis and all factors and conditions known to be associated with other types of NIHF should be excluded. A relationship between fetal hypoalbuminemia and IHF may exist and needs further investigation, IHF is sporadic in most instances; however, recessive inheritance may be indicated by occurrence in two sibs. IHF represents a distinct, frequently unrecognized and relatively common entity in need of further study and increased recognition.

Publication Types:

Case Reports

PMID: 7018238 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=7018238

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Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

2006

Authors: BELLINI Carlo⁽¹⁾ ; HENNEKAM Raoul C. M.^{(2 3)} ; BOCCARDO Francesco⁽⁴⁾ ; CAMPISI Corradino⁽⁴⁾ ; SERRA Giovanni⁽¹⁾ ; BONIOLI Eugenio⁽⁵⁾

Abstract

Six newborns that presented at birth with nonimmune hydrops fetalis and for whom no cause could be found were investigated for the presence of lymphatic dysplasia. Careful analysis led to findings of some degree of lymphatic dysplasia in all patients. This suggests that lymphatic dysplasia may represent at least part of the causes that are responsible for the "idiopathic" form of nonimmune hydrops fetalis. Carefully searching for lymphatic dysplasia in these patients, and if indicated in their relatives, as well as establishing the exact nature of the lymphatic dysplasia must be carried out so as to provide proper genetic counseling to families with nonimmune hydrops.

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Non Immune Hydrops Fetalis

Dr. Anil B. Jalan
M.D.,D.C.H.,M.C.P.S.

Introdution :- Hydrops Fetalis is a diagnosis that in the past , was made after delivery and was described as excess collection of fluid in several neonatal body cavities .

Ballantyne described the first case of Hydrops Fetalis 100 yrs. ago , and 50 yrs. later ,Potter described nonimmune hydrops fetalis .

Nonimmune Hydrops Fetalis is responsible for 3 % of overall perinatal mortality .

In 1970 , MaCaffe et.al. reported that 82 % of hydrops cases were caused by immune diseases ; by 1992 , 87 % were caused by nonimmune conditions.

Definition :- The presence of excess extracellular fluid in two or more sites without any identifiable circulating antibody to red blood cell antigens .

Incidence :- Most of the large serieses have reported an incidence of 1 : 2000 to 1 : 3000. Almost 85 - 90 % of these hydrops fetalis incidents are due to nonimuune causes .

Since the advent of ultrasonography more and more cases of fetal hydrops are being detected by gynecologists & sonologists. At times it becomes diffcult to predict the outcome of such hydropic fetuses . The causes of hydrops fetalis are many , but few common ones must be remembered at the time of sonography , so that we look for other evidence which will give support to our provisional diagnosis .

Several large serieses have suggested that cardiac malformations are amongst the most common causes , because they are often found in hydropic fetuses . Yet , cardiac malformations are one of the most common defects and only seldom are associated with nonimmune hydrops fetalis . Thus , the presence of a heart defect doesnot prove that hydrops results from heart failure .

At present three main hypotheses have been proposed for the pathophysiological mechanisms underlying hydrops :-

1 ] Inadequate cardiac output due mainly to

a. Obstructive out-flow
b. Diverted blood flow
c. Inadequate blood return
d. Inadequate ventricualr filling
e. Inadequate inotropic force
f. Regurgitation of blood across Cardiac valves .
g. Reversal of blood flow in I.V.C.

All the above mechanisms lead to cardiac failure , cardiomegaly , and elevated umbilical venous pressure , also seen in Rh immune hydrops , due to portal hypertension .

Portal hypertension in immune hydrops is due to hypertrophy of Hepatic Erythropoeitic tissue .

2 ] Lymphatic Abnormalities Found in association with :-
a. Cystic hygroma
b. Noonan syndrome
c. Turner's syndrome
d. Pulmonary or peritoneal lymphangiectasia .
e. Lymphatic venous anastomosis .
f. Connective tissue malformation e.g. - skeletal dysplasia .
g. S.O.L. in thorax e.g. -Cystic adenamatoid malformation of lung & Diaphragmatic hernia .

Please note that in the above situation the umbilical venous pressure is normal .

3 ] Reduced osmotic pressure :- Hypoproteinemia .

The fetal outcome & the genetic counselling entierly depends upon the exact etiology of such hydrops . Without repeated USG & colour doppler it is impossible to judge the progress of the anasarca . It is quite evident in our cases . Over a period of 4 wks. we could demonstrate progressive anasarca & suspicion of chromosomal anomaly . This helped tremendously to gynecologists & parents in decision making , which was MTP . However in certain cases especially in the immune hydrops cases , in-utero intervention is possible but the decision of undertaking such heroic measures in the yet unborn patient entirely depends on the parental willingness . The causes of hydrops fetalis are given below .

Following is a list of few common causes of hydrops fetalis .

Causes of hydrops fetalis :-

1 .
a. Rhesus hemolytic anemia
b. Alfa thalassemia
c. Fetal erythro - leukemia

2 .
a. Toxoplasmosis
b. CMV infection
c. Parvovirus
d. Syphilis
e. Other fetal infections .

3 .
a. Anagioma of palcenta or fetus
b. Renal or umbilical vein thrombosis
c. Cardiovascular malformation .
d. Fetal tachycardia
e. Cardiac rhabdomyoma ( Tuberous sclerosis )

4 .
a. Fetal haemorrhage
b. Twin to twin tranfussion syndrome

5 .
a. Fetal red cell enzyme defects
b. Lysosomal enzyme defects

6 .
a. Cystic adenomatoid malformation of the lung
b. Extralobar pulmonary sequestration
c. Pulmonary hypoplasia
d. Pulmonary lymphangiectasia
e. Tracheal atresia
f. Diaphragmatic hernia

7 .
a. Hepatitis or hepatic necrosis
b. Cirrhosis

8 . Lower urinary tract abnormalities
9 . Congenital neuroblastoma , teratoma, glioma
10. Some types of short limbed dwarfism
11. Noonan syndrome
12. Nuchal bleb syndrome
13. Optiz frias syndrome
14. Turner syndrome
15. Trisomy 18 and 21
16. Triploidy
17. Maternal nephrotic syndrome

Suggested investigations :-

Maternal tests with live fetus inutero :

1. BL.Gr. Serology and typing including titre for anti-d antibodies.
2 . Serum tests for Syphilis ( VDRL ) & TORCH titre .
3 . Kleihauer test for feto maternal haemorrhage .
4 . Fetal USG for cardiac anomalies and tumours .
5 . U.S.G. for placental hemangioma

Cord blood at delivery - irrespective of outcome .

1 . Blood Group Serology and tying
2 . Chromosome analysis.
3 . Total protein and albumin
4 . TORCH titre
5 . Hb and Hb - EPP . ( H.P.L.C. )
6 . Vacuolated lymphocytes
7 . Enzymology ( red cell and lysosomal enzyme ).

In the event of infant death detailed antopsy and H.P. is indicated especially to look for anomalies :-

1 . Cardiovascular system .
2 . Kidneys .
3 . Central nervous system .

Tissues from all usual organs must be taken for H.P.

If possible viral culture and chromosome analysis is indicated .

From the above discussion it appears that the list of causes is extensive . However it will be helpful to know that hydrops fetalis is common in certain conditions and only occasionally seen in others .

Hydrops fetalis is frequent in :-

1 ) Achondrogenesis , type I .
2 ) Fibro chondro genesis .
3 ) Monozygotic twinning and structural defects .
4 ) Osteogenesis Imperfecta syndrome type II .
5 ) XO - syndrome ( Turner syndrome ).
Occasional in :-

1 . Achondrogenesis - Hypochandrogeneis , type II
2 . Chondrodysplasia punctata - X Linked Dominant type .
3 . Down - syndrome .
4 . Generalised gangliosidosis , type I & severe infantile type .
5 . Lethal Multiple Pterygium syndrome .
6 . Morquio syndrome .
7 . Mucopolysacchroidosis type VII
8 . Short Rib Polydactyly syndrome type II ( Majewski type SRP )

It is impossible to discuss all the causes and pathologies of hydrops fetalis but we would like to highlight few conditions of clinical interest , especially syphilis and parvo - virus infection .

Hydrops Fetalis in Turner?Syndrome :- The Turner?syndrome is one of the commonest cause for fetal hydrops especially in the Indian situation . The frequency of Turner?syndrome amongst liveborn infants is 1 in 2,000 females according to D.W.Smith and 1 in 10,000 females according to J.L.Simpson & M.S.Golbus . There are not many studies available for the incidence amongst spontaneous abortions , but one by DR. J.L.Simpson gives 8.6 % due to Turner ( 45 , OX ) in spontaneous abortion cases .
Monosomy X ( i.e. Turner ) is the signal most common chromosomal abnormality in spontaneous abortions , accounting for 20 - 25 % of abnormal specimens . There are no definite figures available for hydrops fetalis cases .

Etiology :- Faulty chromosomal distribution leading to XO individual with 45 chromosomes . The paternal chromosome is the one more likely to be missing . There has been no significant older age factor for this neuploidy . On the contatry it is more common in the young mothers ( Warburton et. al. 1980 ) .This has been our observation also, especially amongst the hydropic fatuses and in the first trimester abortion cases . It is generally a sporadic event in a family , although there are as yet no adequate data on risk of recurrence . Mosaicism doesnot ensure survival till term . However the incidence of sex chromosome mosaiciam is higher in liveborns than in aborted 45 XO Fetuses .

Patients who had one abortion with 45 XO karyotype doesnot mean that we will have only the similar type of recurrence . Wharton et. al. 1987 , has showed that the mothers who had 45 XO fetuses also had normal Fetuses , Monosomies , Triploidies in future .

The above discussion definitely emphasises one point that we must advise prenatal diagnosis during the next pregnancy .
The clinical features of Turner syndrome are summarised below . The interested readers are referred to the classical text book - Smith?recognizable patterns of human malformation , 5 th Edn.

Clinical Features of Turner?Syndrome :-

Common Features :-

1 . Short stature
2 . Edema of fingers and toes
3 . Mild pectus excavatum
4 . Anomalous auricles , mostly prominent .
5 . Narrow maxilla and palate .
6 . Relatively small mandible .
7 . Inner canthal folds .
8 . Short neck and low posterior hair line .
9 . Webbed posterior neck .
10. Cubitus valgus.
11. Medial Tibial exostosis .
12. Broad chest and widely spaced nipples .
13. Short 4 th metacarpals/ metatarsals
14. Bone dysplasia with coarse tubular pattern .
15. Narrow hyperconvex or deep set nails .
16. Excessive pigmented naevi .
17. Distal A.T.D. angle .
18. Loose skin about neck in infancy

Other anomalies :-

1 . Horse shoe kidney .
2 . Double or cleft renal pelvis .
3 . Cardiac defects - V.S.D. , Coarctation of aorta etc.
4 . Perceptive hearing deficits.
5 . Abnormal angulation of radius to carpal bones .
6 . Short mid phalanx of the 5 the finger ( cleinodactyly ).
7 . Scoliosis , kyphosis .
8 . Spina bifida .
9 . Vertebral fusion .
10. Cervical rib.
11. Anomalous sell turcica .
12. Ptosis .
13. Strabismus .
14. Blue sclerae .
15. Catarct .
16. Mental Retardation .
17. Haemangiomata of intestine .
18. Idiopathic hypertension .

Fetal Changes :-

1 . Hydrops fetalis .
2 . Cystic Hygroma .
3 . Single Umbilical artery .
4 . I.U.G.R.
5 . Congenital Heart Defects .

Adult Turner?Syndrome with additional features :-

1 . Hypertension .
2 . Diabetes Mellitus .
3 . Delayed Puberty , Amenorrhea ,
Menstrual disturbances and
infertility .

Hydrops in other Cytogenetic abnormalities :

DR. L. P. Shulman from Memphis
( U.S.A. ) published his data of 18 cases of hydrops in 1998 where hydrops was detected as space suit hydrops in the first trimester of the pregnancy and C.V.Bx or Amniotic Fluid karyotyping was done on all the patients . His results are given below :

Shulman et. al. :-

Total No. of cases 18

Chromosome abnormalities 15
( 83.3 % )
Sex chromosome abnormal 7
Autosome abnormal
8

Normal Chromosomes 3 ( 16.7 % )
Turner Syndrome ; 45 , XO - classical 6 / 15 ( 40.0 % )
Turner Syndrome Mosaic ; 45 , XO / 46 , XY 1 / 15 ( 6.67 % )
Trisomy - 21 ; 47 , XX or XY + 21 5 / 15 ( 33.33 % )
Trisomy 18 ; 47 , XX or XY + 18 3 / 15 ( 20.00 % )

The ratio of 7 : 8 of sex chromosome to autosome abnormalities is greater than that observed ( approximately 1 : 4 ) among fetuses with isolated prominent nuchal translucency .

Hydrops in Syphilis :- Hydrops is quite variable in its frequency . Tan et. al. Found it in 40 % of his series , while any number of others failed to mention it at all ! The edema may be so severe that infant is thought be the product of a severely Rh sensitized multiparous mother . It is mandatory that congenital syphilis be considered as the cause in every instance of perinatal non immune hydrops .

Parvovirus Infection :- This is one of the most important viruses responsible for fetal hydrops . Human Parvovirus was first discovered in 1975 and it was first associated with adverse pregnancy outcome in 1984 . This virus is a small single stranded DNA virus , singularly dependent on host cell function . Autonomous parvoviruses including the human parvovirus B . 19 are able to replicate without the help from another virus , but only in the proliferating cells . In general , mammalian parvoviruses are species specific . To date the only human parvovirus identified is B - 19 .

The diseases caused by Parvoviruses are :-

1 . Aplastic crisis in children with sickle cell disease .
2 . Erythema Infectiosum . ( E.I. )
3 . Febrile illness with arthargia and arthritis .
4 . Chronic anemia in immune compromised host .
5 . Haemo-phagocytic syndrome .

Infection with B - 19 is relatively common , seroprevalence studies indicate that 30 % to 60 % of adults have been infected . Modes of transmission of the virus have not been completely defined but appear to include respiratory secretions . Viremia occurs approximately one week after inoculation and is accompanied by rash and joint symptoms , approximately 10 days later . There is transient reticulocytopenia . There may be slapped cheek appearance of EI .

Laboratory Investigations :-

1 . Serologic diagnosis - Ig G & Ig M - B - 19 specific antibodies .

2 . Detection of DNA by P.C.R. appears to be the most sensitive test for detection of this virus .

Effects on pregnancy and fetus . :-

Fetal infection at all stages of pregnancy has been documented with a spectrum of consequences -

1 . Spontaneous abortions .
2 . Still birth .
3 . Severe non immune hydrops .

Fetal damage is not inevitable following maternal infection , and infact , a healthy infant is the most common product of a pregnancy complicated by parvovirus infection .

The risk of unfavourable outcome varies from less than 10 % to 38 % in different serieses published .

The evidence for treatogenicity is weak and till to date there is only one report of a congenital anomaly in a B - 19 infected fetus .

In the infected fetuses , the principal organ affected is the bone marrow . The red cell survival in fetuses is reduced from normal 120 days to between 45 and 70 days and profound anemia results from B - 19 induced erythroid bone marrow aplasia . Fetal blood sampling in one affected fetus revealed a Hb of 1.8 Gm / dL and reticulo-cytopenia . Usually the bone marrow recovers in 7 - 10 days .In immuno-immature infants prolonged infection may occur . Transfusion of infected fetuses with packed red blood cells has been successfully used to treat the intrauterine hydrops but experience is limited .

Limited data suggests that elevation of M.S.A.F.P. values may be a marker for the development of hydrops fetalis .

A possible immunologic origin of idiopathic nonimmune hydrops fetalis has been suggested . Of 324 cases of prenatally diagnosed NIHF , 49 (15.1 % ) could be classified as idiopathic . The proportion of parents sharing 4 or 5 H.L.A. antigens was increased significantly in the 38 patients of the idiopathic group as compared to 38 age and parity paired controls . Besides in 8 patients , an increased paternal histo-compatibility and a decreased incidence and percentage of lympho-cytotoxic antibodies was observed .

Maternal complications of nonimmune hydrops fetalis :-

1 . Poly-hydramnios :- commonest
complications .
2 . Anemia
3 . Preterm labour
4 . Pregnancy induced hypertension
5 . Post partum haeorrhage .
Protocol for management of nonimmune hydrops :-

Maternal causes :-

History :

1. Obstetric history
2. Past medical history
3. Family H/O genetic disorders
4. Recent infections
5. Fetal activity

Investigations :

a. Blood group and antibodies
b. Viral screen / TORCH titre
c. V.D.R.L.
d. G.T.T / Glycosylated Hb
e. Auto-antibody screen
f. Kleihauer - Betke count
g. Full blood count
h. Hb Electrophoresis

Fetal causes :-

U.S.G. Evaluation :

1.Anomaly scan
2.Liquor
3.Placenta
4.Echo-cardiography

Doppler Blood Flow Studies :

a. Umbilical artery
b. Middle cerebral artery
c. Aorta
d. Umbilical artery pressure

Fetal Blood Sample :

1. Full blood count
2. Bl.Gr. & Coombs test
3. Fetal blood abnormal Hb studies
4. Karyotype
5. Blood gases
6. Serum protein
7. Viral screen / TORCH titre
8. Metabolic disorders study

Aborted Fetus Or Dead Fetus :

1 . Complete autopsy of fetus
( if parents are willing ) .
2 . Clinical photographs of the fetus .
3 . X ray - complete babaygram.
4 . Collect blood as follows -
( Use Vacutainer tubes only ) .
5 ml in E.D.T.A. tubes
5 ml in heparinised tube
10 ml in plain tube .
5 . Two pieces of placenta of 1?1?
each in normal saline & formalin
( two separate sterile containers ).

To keep all the material at 2 - 8 centigrade temp. in fridge .

To inform geneticist within 24 hrs. or send the samples as eraly as possible to lab along with X-ray & clinical photographs of the fetus .

References :-

1 . Avron Y. Sweet & Edwin G. Brown , Fetal & Neonatal Effects of Maternal Diseases , 1991 , Page no. 162 - 163 .
2 . Duru Sushil Shah , An Introduction To Genetics and Fetal Medicine. Editor : Dr. Kamini Rao , Page no. 130 - 136 .
3 . J.L. Simpson & Golbus , Genetics in Obstetrics and Gynecology , 2nd Edition.Page no. 61 & 187 .
4 . L.P. Shulman & O.P. Phillips , Prenatal Diagnosis and Therapy , 1998 ,Proceedings of 8th international Conference on prenatal Diagnosis of genetic disorders ., Page no. 22 - 24 .
5 . Mary L. Kumar M.D., Fetal & Neonatal Effects of Maternal Disease by Avron Y. Sweet & Edwin G. Brown ( 1991 ) , Page no. 39 to 44.
6 . Smith's Recognisable Patterns of Human Malformation , 5 th edition , 1997 Page 843 - 844 .

http://jalananil.tripod.com/NIRMAN/id6.html

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Intrauterine treatment of idiopathic hydrops fetalis.

Shimokawa H, Hara K, Maeda H, Miyamoto S, Koyanagi T, Nakano H.

Department of Gynecology and Obstetrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan.

Seven fetuses with idiopathic hydrops fetalis (IHF) were treated in utero by injecting albumin into the fetal abdominal cavity and by removal of accumulated fluid from the serous cavities. Signs of hydrops fetalis disappeared in utero in one, and skin edema significantly decreased in another. In the other five, signs of hydrops fetalis remained unchanged in utero. The hourly fetal urine production rate (HFUPR) increased after albumin injection in three of five. The interval between the initial diagnosis and delivery ranged from 3 to 14 weeks. Gestational age at the time of delivery ranged from 33 to 40 weeks. There were no stillbirths. Two of three without pleural effusion survived, but four with pleural effusion died of respiratory failure during the neonatal period due to pulmonary hypoplasia. These results indicate that albumin injection into the fetal abdomen in utero deserves further attention and that other therapeutic methods should be established to enhance the development of the lungs in cases of intrauterine treatment of IHF with pleural effusion.

PMID: 3050015 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3050015&dopt=Abstract

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Prognostic factors and prenatal management in non immune hydrops fetalis are still a dilemma.

Comment in:

J Perinat Med. 1997;25(4):388.

Rejjal AR, Rahbeeni Z, al-Zahrani AF.

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

Seventeen cases of non-immune hydrops fetalis (NIHF) were diagnosed prenatally at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia over a period of 15 years (1979-1994). In nine patients (53%) a possible underlying mechanism was suspected. Of the six patients who survived beyond the first year of life, four had normal neurological and development follow-up. Family history was positive for NIHF in five cases (29%): two of these had a history of four siblings each who had been diagnosed with NIHF. All patients had prenatal ascites and subcutaneous oedema diagnosed by ultrasound. All five patients who had prenatal ascites, pericardial and pleural effusion died, while 9 of 11 (82%) patients who had prenatal pleural effusion and ascites also succumbed. Four of five (80%) patients with congenital anomalies died. One patient required intrauterine blood transfusion because of fetal anemia with subsequent partial resolution of the hydrops. Two patients received digitalis transplacentally for treatment of congestive heart failure secondary to congenital heart disease without response. We conclude that the presence of prenatal pericardial and pleural effusion or congenital anomalies carries a very poor prognosis in patients with NIHF.

PMID: 8950726 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8950726&itool=iconabstr

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Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA.

In recent years there has been an increased recognition that hydrops fetalis may be an extreme presentation of many of the lysosomal storage disorders. Hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Ten different lysosomal storage disorders have now been diagnosed in infants with hydrops fetalis, including mucopolysaccharidosis (MPS) VII and IVA, type 2 Gaucher disease, sialidosis, GMI gangliosidosis, galactosialidosis, Niemann-Pick disease type C, disseminated lipogranulomatosis (Farber disease), infantile free sialic acid storage disease (ISSD), and mucolipidosis II (I-cell disease). Frequently, these inborn errors of metabolism are recognized only after the unfortunate recurrence of hydrops fetalis in several pregnancies of a family. Making the diagnosis relies on the physician having a high index of suspicion and ordering appropriate testing, which can often be performed prenatally. In several of these disorders, including MPS VII, infantile galactosialidosis, type 2 Gaucher disease, and ISSD, hydrops fetalis is a relatively common presentation. A greater physician awareness of hydrops fetalis as a presentation of lysosomal disease will facilitate establishing a diagnosis in cases that would have previously been considered idiopathic and will enable a better estimation of the incidence of this association. Lysosomal disorders are among the few causes of nonimmune hydrops fetalis in which an accurate recurrence risk can be ascertained. With an early and accurate diagnosis, genetic counseling and family planning can be offered in these difficult cases.

Publication Types:

Review
Review, Tutorial

PMID: 10645471 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=10645471&itool=iconabstr

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Abstracts:

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Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings. - Jun 2008

Successful management of prenatal hydrops fetalis in a mother with HIV. - April 2008

Acardiac twin fetus with severe hydrops fetalis and bilateral talipes varus deformity - Sept 2007

Hydrops fetalis in a neonate with down syndrome, transient myeloproliferative disorder and hepatic fibrosis. - Sept 2007

Recurrent Idiopathic Nonimmune Hydrops Fetalis: A Case Report - Oct 2006

The Emerging Pattern Of Hydrops Fetalis - Incidence, aetiology and management - May 2006

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External Links and Resources:

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Hydrops Fetalis - eMedicine

Hydrops Fetalis - eMedicine article Two

Hydrops Fetalis

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References:

Pediatrics - University of Minnesota (1)

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Classification and Diagnostic Codes:

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ICD-10

P56 - Hydrops fetalis due to haemolytic disease
	Excludes:	hydrops fetalis NOS ( P83.2 ) · not due to haemolytic disease ( P83.2 )
P56.0	Hydrops fetalis due to isoimmunization
P56.9	Hydrops fetalis due to other and unspecified haemolytic disease

P83.2		Hydrops fetalis not due to haemolytic disease
		Hydrops fetalis NOS

ICD-9

2008 ICD-9-CM Diagnosis 773.3

Hydrops fetalis due to isoimmunization

773.3 is a specific code that can be used to specify a diagnosis
773.3 contains 2 index entries
View the ICD-9-CM Volume 1 773.* hierarchy

2008 ICD-9-CM Diagnosis 778.0

Hydrops fetalis not due to isoimmunization

778.0 is a specific code that can be used to specify a diagnosis
778.0 contains 6 index entries
View the ICD-9-CM Volume 1 778.* hierarchy

778.0 also known as:

Idiopathic hydrops

778.0 excludes:

hydrops fetalis due to isoimmunization (773.3)

Idiopathic Hydrops Fetalis Idiopathic - OMIM 236750

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