Hydorp fetalis

.
 Hydrop fetalis
Hydrops fetalis is a condition in the fetus
characterized by an abnormal collection of fluid with
at least two of the following:
Edema
(fluid beneath the skin, more than 5 mm).
Ascites
(fluid in abdomen)
Pleural effusion
(fluid in the pleural cavity, the fluid-filled space that
surrounds the lungs)
Pericardial effusion
(fluid in the pericardial sac, covering that surrounds the
heart)
 Hydrop fetalis
Hydrops fetalis is typically diagnosed during
ultrasound evaluation for other complaints
such as :
Polyhydramnios
Size greater than dates
Fetal tachycardia
Decreased fetal movement
Abnormal serum screening
Antenatal hemorrhage
 Etiology
Hydrops fetalis is found in about 1 per 2,000
births and is categorized as :
Immune hydrops
Nonimmune hydrops
 Immune hydrops
Accounts for 10-20%of cases
Maternal antibodies against red-cells of the fetus
cross the placenta and coat fetal red cells which are
then destroyed (hemolysis) in the fetal spleen.
The severe anemia leads to
High-output congestive heart failure.
Increased red blood cell production by the spleen and liver
leads to hepatic circulatory obstruction (portal
hypertension)
 Immune hydrops
Anti-D, anti-E, and antibodies directed against other
Rh antigens comprise the majority of antibodies
responsible for hemolytic disease of the newborn .
However, there are numerous, less commonly
encountered, antibodies such as anti-K (Kell), anti-Fya
(Duffy) , and anti-Jka (Kidd) that may also cause hemolytic
disease of the newborn.
 Non-immune hydrops
Accounts for 80 -90% of cases
Any other cause besides immune.
In general nonimmune hydrops (NIH) is
caused by a failure of the interstitial fluid (the
liquid between the cells of the body) to return
into the venous system .
 Non-immune hydrops
This may due to:
Cardiac failure
(High output failure from anemia, sacrococcygeal
teratoma, fetal adrenal neuroblastoma, etc.)
Impaired venous return
(Metabolic disorders)
Obstruction to normal lymphatic flow
(Thoracic malformations)
Increased capillary permeability
Decreased colloidal osmotic pressure
(Congential nephrosis)
 Causes
Causes can be grouped in 6 broad categories:
Cardiovascular
genetic abnormalities
intrathoracic malformations
hematological disorders
infectious conditions
idiopathic forms
 Cardiac causes
Structural anomalies
Abnormalities of left ventricular outflow
Aortic valvular stenosis
Aortic valvular atresia
Coarctation of the aorta
Aortico-left ventricular tunnel
Atrioventricular canal
Left ventricular aneurysm
Truncus arteriosus
Hypoplastic left heart
Spongiosum heart
Endocardial fibroelastosis
 Cardiac causes
Structural anomalies (cont.)
Abnormalities of right ventricular outflow
Pulmonary valvular atresia or insufficiency
Ebstein anomaly
 Cardiac causes
Structural anomalies (cont.)
Other vascular malformations
Arteriovenous malformations
Diffuse hemangiomatosis
Placental hemangioma
Umbilical cord hemangioma
Hepatic hemangioendothelioma
Abdominal hemangioma
Pulmonary arteriovenous fistula
Cervical hemangioendothelioma
Paratracheal hemangioma
Cutaneous cavernous hemangioma
Arteriovenous malformations of the brain
 Cardiac causes
Nonstructural anomalies
Obstruction of venous return
Superior or inferior vena cava occlusion
Absent ductus venosus
Umbilical cord torsion or varix
Intrathoracic or abdominal tumors or masses
Disorders of lymphatic drainage
 Cardiac causes
Nonstructural anomalies (cont.)
Supraventricular tachycardia
Congenital heart block
Prenatal closure of the foramen ovale or ductus
arteriosus
Myocarditis
Idiopathic arterial calcification or hypercalcemia
Intrapericardial teratoma
 Hematologic causes
Isoimmunization (hemolytic disease of the
newborn, erythroblastosis)
Rh (most commonly D; also C, c, E, e)
Kell (K, k, Kp, Js[B])
ABO
MNSs (M, to date)
Duffy (Fyb )
 Hematologic causes
Other hemolytic disorders
Glucose phosphate isomerase deficiency
(autosomal recessive)
Pyruvate kinase deficiency (autosomal recessive)
G-6-PD deficiency (X-linked dominant)
 Hematologic causes
Disorders of red cell production
Congenital dyserythropoietic anemia types I and II
(autosomal dominant)
Diamond-Blackfan syndrome (autosomal dominant)
Lethal hereditary spherocytosis (spectrin synthesis defects)
(autosomal recessive)
Congenital erythropoietic porphyria (Gnther disease)
(autosomal recessive)
Leukemia (usually associated with Down or Noonan
syndrome)
Alpha-thalassemia (Bart hemoglobinopathy)
Parvovirus B19 (B19V)
 Hematologic causes
Fetal hemorrhage
Intracranial or intraventricular
Hepatic laceration or subcapsular
Placental subchorial
Tumors (especially sacrococcygeal teratoma)
Fetomaternal hemorrhage
Twin-to-twin transfusion
Isoimmune fetal thrombocytopenia
 Infectious causes
B19V
Cytomegalovirus (CMV)
Syphilis
Herpes simplex
Toxoplasmosis
Hepatitis B
Adenovirus
Ureaplasma urealyticum
Coxsackievirus type B
Listeria monocytogenes
Enterovirus10
Lymphocytic choriomeningitis virus (LCMV)11
 Inborn errors of metabolism
Glycogen-storage disease, type IV
Lysosomal storage diseases
Gaucher disease, type II (glucocerebroside deficiency)
Morquio disease (mucopolysaccharidosis, type IV-A)
Hurler syndrome (mucopolysaccharidosis, type 1H; alpha1
iduronidase deficiency)
Sly syndrome (mucopolysaccharidosis, type VII; beta-
glucuronidase deficiency
Farber disease (disseminated lipogranulomatosis)
GM1 gangliosidosis, type I (beta-galactosidase deficiency)
Mucolipidosis I
I-cell disease (mucolipidosis II)
Niemann-Pick disease, type C
 Inborn errors of metabolism
Salla disease (infantile sialic acid storage disorder
[ISSD] or sialic acid storage disease,
neuroaminidase deficiency)
Hypothyroidism and hyperthyroidism
Carnitine deficiency
 Genetic syndromes
Achondrogenesis, type IB (Parenti-Fraccaro syndrome)
Achondrogenesis, type II (Langer-Saldino syndrome)
Arthrogryposis multiplex congenita, Toriello-Bauserman type
Arthrogryposis multiplex congenita, with congenital muscular
dystrophy
Beemer-Langer (familial short-rib syndrome)
Blomstrand chondrodysplasia
Caffey disease (infantile cortical hyperostosis; uncertain inheritance)
Coffin-Lowry syndrome (X-linked dominant)
Cumming syndrome
Eagle-Barrett syndrome (prune-belly syndrome; since 97% males,
probably X-linked)
 Genetic syndromes
Familial perinatal hemochromatosis
Fraser syndrome
Fryns syndrome
Greenberg dysplasia
Lethal congenital contracture syndrome
Lethal multiple pterygium syndrome (excess of males, so probably X-
linked)
Lethal short-limbed dwarfism
McKusick-Kaufman syndrome
Myotonic dystrophy (autosomal dominant)
Nemaline myopathy with fetal akinesia sequence
Noonan syndrome (autosomal dominant with variable penetrance)
 Genetic syndromes
Perlman/familial nephroblastomatosis syndrome (inheritance
uncertain)
Simpson-Golabi-Behmel syndrome (X-linked [Xp22 or Xp26])
Sjgren syndrome A (uncertain inheritance)
Smith-Lemli-Opitz syndrome
Tuberous sclerosis (autosomal dominant)
Yellow nail dystrophy with lymphedema syndrome (autosomal
dominant
 Chromosomal syndromes
Beckwith-Wiedemann syndrome (trisomy 11p15)
Cri-du-chat syndrome (chromosomes 4 and 5)
Dehydrated hereditary stomatocytosis (16q23-qter)
Opitz G syndrome (5p duplication)
Pallister-Killian syndrome (isochrome 12p mosaicism)
Trisomy 10, mosaic
Trisomy 13
Trisomy 15
Trisomy 18
Trisomy 21 (Down syndrome)
Turner syndrome (45, X)
 Tumor or mass causes
Intrathoracic tumors or masses
Pericardial teratoma
Rhabdomyoma
Mediastinal teratoma
Cervical vascular hamartoma
Pulmonary fibrosarcoma
Leiomyosarcoma
Pulmonary mesenchymal malformation
Lymphangiectasia
 Tumor or mass causes
Intrathoracic tumors or masses (cont.)
Bronchopulmonary sequestration
Cystic adenomatoid malformation of the lung
Upper airway atresia or obstruction (laryngeal or
tracheal)
Diaphragmatic hernia
Eventration of the diaphragm
 Tumor or mass causes
Abdominal tumors or masses
Metabolic nephroma
Polycystic kidneys
Neuroblastoma
Hepatic mesenchymal hamartoma
Hepatoblastoma
Ovarian cyst
 Tumor or mass causes
Other conditions
Placental choriocarcinoma
Placental chorangioma
Cystic hygroma
Intussusception
Meconium peritonitis
Intracranial teratoma
Sacrococcygeal teratoma
 Pathophysiology
In immune hydrops, excessive and prolonged
hemolysis causes anemia, which in turn
stimulates marked marrow erythroid
hyperplasia
It also stimulates extramedullary
hematopoiesis in the spleen and liver with
eventual hepatic dysfunction
 Pathophysiology
The precise pathophysiology of hydrops
remains unknown
Theories includes
Heart failure form profound anemia and hypoxia
Portal hypertension due to hepatic parenchymal
disruption caused by extramedullary hemopoiesis
Decreased colloid oncotic pressure resulting from
liver dysfunction and hypopreteinemia
 Pathophysiology
The degree and duration of anemia is the
major factor causing and influencing the
severity of ascites
Secondary factors include hypoproteinemia
caused by liver dysfunction and capillary
endothelial leakage resulting from tissue
hypoxia, both of these lead to protein loss and
decreased colloid oncotic pressure
 Pathophysiology
Severe anemia

Hepatic extramedullary hematopoeisis

Decreased production of plasma proteins

Decreased plasma COP

 Pathophysiology
Congestive heart failure

Increased central venous pressure

Increased capillary hydrostatic pressure

 Pathophysiology
Severe tissue hypoxia

Endothelial cell damage

Capillary leak of fluid & protein

Decreased Increased
COP CVP

Increased
fluid efflux
from intravascular
space

Capillary
leak
 Pathophysiology
There may be cardiac enlargement and
pulmonary hemmorrhage
Fluid collects in the fetal thorax, abdominal
cavity, or skin
The placenta is markedly edematous, enlarge,
and boggy. It contains large, prominent
cotyledons and edematous villi
 Pathophysiology
Pleural effusions may be so severe as to
restrict lung development, which causes
pulmonary compromise after birth
Ascites, hepatomegaly, and splenomegaly may
lead to severe labor dystocia
Severe hydropic changes are easily seen with
sonography
 Pathophysiology
Fetuses with hydrops may die in utero from
profound anemia and circulatory failure
One sign of severe anemia and impending
death is the sinusoidal fetal heart rate pattern
Hydrops placental changes leading to
placentomegaly can cause preeclampsia
 Pathophysiology
The liveborn hydropic infant appears pale,
edematous, and limp at birth and usually
requires resuscitation
The spleen and liver are enlarged, and there
may be widespread ecchymosis or scattered
petechiae
Dyspnea and circulatory collapse are common
Non-immune Hydrops Fetalis
Placenta of Hydropic Pregnancy

Placenta of Normal Pregnancy

 Associated complication
Polyhydramnios
Placenta abruption
Uterine atony
Pre-mature labour
Hydropic, theickened placenta (> 6 cm)
Retained placenta
Preeclapsia
 Associated complication
In an attempt to compensate for the fetal hypoxia,
placenta increases in size and sometimes also
penetrate deeper into the myometrium. Thus causes
the morbid adherence of placenta and can cause the
problems for third stage of labor necessitating the
manual removal of Placenta.
 Associated complication
Mirror syndrome
The mother develops preeclampsia along with
severe edema that is similar to that of the fetus
Caused by vascular changes in the swollen,
hydropic placenta, this likely related to
antiangiopenic factors produced by
hyperplacentosis
 History
A history suggesting the presence of any of
the following factors should trigger an
extensive diagnostic study for hydrops fetalis:
Maternal history
Rh negative (d;d) blood type
Known presence of isoimmune blood group
antibodies
Prior administration of blood products
Risks of illicit drug use
 History
Maternal history (cont.)
Collagen-vascular disease
Thyroid disease or diabetes
Organ transplant (liver, kidney)
Blunt abdominal trauma (abuse, auto accident)
Coagulopathy
Use of indomethacin, sodium diclofenac, or
potentially teratogenic drugs during pregnancy
Younger (<16 y) or older (>35 y) maternal age
 History
Maternal history (cont.)
Risk factors for sexually transmitted diseases
Hemoglobinopathy (especially with Asian or
Mediterranean ethnicity)
Occupational exposure to infants or young
children
Pet cat
Current or recent community epidemic of viral
illness
 History
Family history
Jaundice in other family members or in previous
child
Family history of twinning (specifically,
monozygotic)
Family history of genetic disorders, chromosomal
abnormalities, or metabolic diseases
Congenital malformation in previous child
Previous fetal death
 History
Family history (cont.)
Hydramnios in earlier pregnancies
Prior hydrops fetalis
Previous fetomaternal transfusion
Congenital heart disease in previous child
 Physical
The presence of any of the following maternal
or fetal physical findings should prompt
further diagnostic evaluation:
Twinning
Hydramnios
Exanthem or other evidence of intercurrent viral
illness
Herpetic lesion or chancre
Decrease in fetal movements
 Laboratory Studies
Diagnostic studies may be considered best by
temporal grouping (ie, fetal, maternal,
placental, neonatal, postmortem).
Assessments generally proceed from low-risk
noninvasive tests to higher-risk invasive
techniques as required for precise and
complete diagnosis to properly manage the
individual pregnancy.
 Maternal laboratory studies
Assessment of maternal blood type (red cells)
and antibody screen (identification, and
quantitation when indicated, of maternal
plasma antibodies)
Qualitative and quantitative estimates of the
proportion of red cells containing fetal
hemoglobin in the maternal circulation
 Maternal laboratory studies
The search for maternal-fetal infection
Syphilis serology
Antibody screens for common fetal infections
toxoplasmosis, other infections, rubella, CMV
infection, and herpes simplex [TORCH]
Hemoglobin electrophoresis for alpha-
thalassemia heterozygosity
 Maternal laboratory studies
Maternal serum screening tests
AFP levels
Unconjugated estriol (uE3)
Human chorionic gonadotropin levels
inhibin-A levels
Maternal serum IgG placental alkaline
phosphatase levels
 Laboratory Studies
Ultrasound - a diagnostic imaging technique
which uses high-frequency sound waves and a
computer to create images of blood vessels,
tissues, and organs. Ultrasounds are used to
view internal organs as they function, and to
assess blood flow through various vessels.
 Laboratory Studies
Level II sonogram with Doppler measurement
of the peak systolic velocity (PSV) in the fetal
middle cerebral artery (MCA) to assess for
fetal anemia. If there is evidence for anemia or
equivocal result obtain:
Maternal blood counts and hemoglobin electrophoresis
(with hemoglobin DNA analysis), Kleihauer-Betke stain,
glucose 6-phosphate dehydrohgenase deficiency
screen.
Maternal TORCH titers, RPR, listeria, parvovirus B19,
coxsackie, adenovirus, and varicella IgG and IgM, as
indicated.
 Laboratory Studies
Fetal echocardiogram
Consider fetal heart rate monitoring for 12 to 24
hours if fetal arrhythmia is suspected.
Amniocentesis for fetal karyotype and PCR
(polymerase chain reaction) for infections
Fetal percutaneous blood sampling for same and in
addition fetal liver function; and metabolic testing if
indicated.
 Laboratory Studies
In the presence of a family history of an
inheritable metabolic disorder or recurrent
nonimmune hydrops test for :
Storage disorders such as Gauchers, gangliosidosis,
sialidosis, beta-glucuronidase deficiency, and
mucopolysaccharidosis
Enzyme analysis and carrier testing in parents and/or analysis
of fetal or neonatal blood or urine.
Histological examination of fetal tissues.
Maternal thyroid antibodies
 Normal
four
Chamber
Cardiac
View
 Pericardial Effusion

Heart
Body wall
edema in a
hydropic
fetus
www.thefetus.net Fetal Ascites
Fetal Ascites
 Fetal Ascites

www.thefetus.net



Hydrocele can
be an early
manifestation
in hydrops
Soft Tissue
shadow and
pleural
effusion in
hydropic
neonate
 Treatment
Cause Treatment

Fetal anemia Fetal blood sampling followed by in utero

transfusion
Fetal Arrhythmia Medications such as digoxin, sotalol,
propanolol , flecainide, amiodarone

Intrinsic thoracic malformations Thoracentesis or thoracoamniotic shunt

for pleural effusions in select cases

Twin to twin transfusion Fetoscopic laser ablation of

communicating vessels
Syphilis Penicillin
 Treatment
Transplacental drug therapy
Drugs are given to the mother and are passed to the
fetus through the placenta
The main conditions which respond to this approach
are fetal dysrrhythmias (SVT)
Once the type of dysrrhythmia is identified, anti-
arrhythmic agent is given to the mother, with careful
monitoring of her ECG & blood levels.
Drugs: Digoxin, Verapamil, Amiadarone, Flecanide.
Careful Maternal & Fetal Monitoring is Essential
 Treatment
Direct fetal drug therapy
Maternal administration of drugs may be
ineffective due to:
Maternal Metabolism
Maternal Side Effects
Variable Passage Across Placenta
Routes for direct fetal drug therapy:
Intraperitoneal
Intramuscular
Intravascular
 Treatment
Invasive Procedures
Blood / Albumin Transfusion to Fetus
Intraperitoneal
Intravenous
Umbilical Vein
Hepatic Vein
 Treatment
Invasive Procedures
Drainage Procedures:
Large Pleural Effusions
Ascities
All invasive procedures carry an inherent
increased risk of fetal demise or pre-mature
labor.
 Counseling
Long term prognosis depends on underlying
cause and severity of the heart failure.
If the cause of NIH cannot be determined, the
perinatal mortality is approximately 50%
Prognosis is much poorer if diagnosed at less
than 24 weeks , pleural effusion is present, or
structural abnormalities are present .
Pulmonary hypoplasia is a common cause of death in
neonates with plerual effusions.
Fetal hydrops associated with a structural heart defect
is associated with an almost 100% mortality rate.
 Counseling
If early in pregnancy (less than 24 weeks) with
no treatable cause the option of termination
may be a consideration.
Recurrence is uncommon unless related to
blood group incompatibility (isoimmunization)
or inheritable disorder.
 Antepartum
Follow up of the fetus will depend on the
gestational age of the fetus, and the mother's
wishes regarding intervention.
If treatment has been successful or hydrops is
resolving spontaneously, the fetus may be
followed with repeat sonograms every 1 to 2
weeks and antenatal testing.
Patients treated for immune hydrops are
usually delivered at 37 weeks' or when fetal lung
maturity has been confirmed.
 Antepartum
Consultation with the neonatologist may help
to decide when it is appropriate to proceed
with preterm delivery for possible postnatal
treatment .
The mother should be evaluated frequently
for signs of "mirror" syndrome.
 Delivery
The fetus should be delivered at tertiary care
center with neonatologists and other
appropriate specialists.
There is no evidence that delivery by cesarean
section has a marked effect on outcome.
Cord blood should be obtained at delivery for
hemoglobin concentration and direct Coombs
testing
 Delivery
A postmortem evaluation should be
performed in all cases of hydrops that result in
neonatal death. One study showed that a
combined approach of a thorough antenatal
assessment and autopsy may be more likely to
determine the cause of non-immune hydrops .
A hydropic neonate under extensive
Thank you for your attention