2Hydrop fetalisHydrops 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)
3Hydrop fetalisHydrops fetalis is typically diagnosed during ultrasound evaluation for other complaints such as :PolyhydramniosSize greater than datesFetal tachycardiaDecreased fetal movementAbnormal serum screeningAntenatal hemorrhage
4EtiologyHydrops fetalis is found in about 1 per 2,000 births and is categorized as :Immune hydropsNonimmune hydrops
5Immune 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 toHigh-output congestive heart failure.Increased red blood cell production by the spleen and liver leads to hepatic circulatory obstruction (portal hypertension)
6Immune hydropsAnti-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.
7Non-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 .
8Non-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 permeabilityDecreased colloidal osmotic pressure (Congential nephrosis)
9Causes Causes can be grouped in 6 broad categories: Cardiovascular genetic abnormalitiesintrathoracic malformationshematological disordersinfectious conditionsidiopathic forms
10Cardiac causes Structural anomalies Abnormalities of left ventricular outflowAortic valvular stenosisAortic valvular atresiaCoarctation of the aortaAortico-left ventricular tunnelAtrioventricular canalLeft ventricular aneurysmTruncus arteriosusHypoplastic left heartSpongiosum heartEndocardial fibroelastosis
11Cardiac causes Structural anomalies (cont.) Abnormalities of right ventricular outflowPulmonary valvular atresia or insufficiencyEbstein anomaly
12Cardiac causes Structural anomalies (cont.) Other vascular malformationsArteriovenous malformationsDiffuse hemangiomatosisPlacental hemangiomaUmbilical cord hemangiomaHepatic hemangioendotheliomaAbdominal hemangiomaPulmonary arteriovenous fistulaCervical hemangioendotheliomaParatracheal hemangiomaCutaneous cavernous hemangiomaArteriovenous malformations of the brain
13Cardiac causes Nonstructural anomalies Obstruction of venous return Superior or inferior vena cava occlusionAbsent ductus venosusUmbilical cord torsion or varixIntrathoracic or abdominal tumors or massesDisorders of lymphatic drainage
14Cardiac causes Nonstructural anomalies (cont.) Supraventricular tachycardiaCongenital heart blockPrenatal closure of the foramen ovale or ductus arteriosusMyocarditisIdiopathic arterial calcification or hypercalcemiaIntrapericardial teratoma
15Hematologic causesIsoimmunization (hemolytic disease of the newborn, erythroblastosis)Rh (most commonly D; also C, c, E, e)Kell (K, k, Kp, Js[B])ABOMNSs (M, to date)Duffy (Fyb )
17Hematologic 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 (Günther disease) (autosomal recessive)Leukemia (usually associated with Down or Noonan syndrome)Alpha-thalassemia (Bart hemoglobinopathy)Parvovirus B19 (B19V)
18Hematologic causes Fetal hemorrhage Intracranial or intraventricular Hepatic laceration or subcapsularPlacental subchorialTumors (especially sacrococcygeal teratoma)Fetomaternal hemorrhageTwin-to-twin transfusionIsoimmune fetal thrombocytopenia
20Inborn errors of metabolism Glycogen-storage disease, type IVLysosomal storage diseasesGaucher 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 deficiencyFarber disease (disseminated lipogranulomatosis)GM1 gangliosidosis, type I (beta-galactosidase deficiency)Mucolipidosis II-cell disease (mucolipidosis II)Niemann-Pick disease, type C
21Inborn errors of metabolism Salla disease (infantile sialic acid storage disorder [ISSD] or sialic acid storage disease, neuroaminidase deficiency)Hypothyroidism and hyperthyroidismCarnitine deficiency
22Genetic syndromes Achondrogenesis, type IB (Parenti-Fraccaro syndrome) Achondrogenesis, type II (Langer-Saldino syndrome)Arthrogryposis multiplex congenita, Toriello-Bauserman typeArthrogryposis multiplex congenita, with congenital muscular dystrophyBeemer-Langer (familial short-rib syndrome)Blomstrand chondrodysplasiaCaffey disease (infantile cortical hyperostosis; uncertain inheritance)Coffin-Lowry syndrome (X-linked dominant)Cumming syndromeEagle-Barrett syndrome (prune-belly syndrome; since 97% males, probably X-linked)
23Genetic syndromes Familial perinatal hemochromatosis Fraser syndrome Fryns syndromeGreenberg dysplasiaLethal congenital contracture syndromeLethal multiple pterygium syndrome (excess of males, so probably X-linked)Lethal short-limbed dwarfismMcKusick-Kaufman syndromeMyotonic dystrophy (autosomal dominant)Nemaline myopathy with fetal akinesia sequenceNoonan syndrome (autosomal dominant with variable penetrance)
24Genetic syndromesPerlman/familial nephroblastomatosis syndrome (inheritance uncertain)Simpson-Golabi-Behmel syndrome (X-linked [Xp22 or Xp26])Sjögren syndrome A (uncertain inheritance)Smith-Lemli-Opitz syndromeTuberous sclerosis (autosomal dominant)Yellow nail dystrophy with lymphedema syndrome (autosomal dominant
26Tumor or mass causes Intrathoracic tumors or masses Pericardial teratomaRhabdomyomaMediastinal teratomaCervical vascular hamartomaPulmonary fibrosarcomaLeiomyosarcomaPulmonary mesenchymal malformationLymphangiectasia
27Tumor or mass causes Intrathoracic tumors or masses (cont.) Bronchopulmonary sequestrationCystic adenomatoid malformation of the lungUpper airway atresia or obstruction (laryngeal or tracheal)Diaphragmatic herniaEventration of the diaphragm
28Tumor or mass causes Abdominal tumors or masses Metabolic nephroma Polycystic kidneysNeuroblastomaHepatic mesenchymal hamartomaHepatoblastomaOvarian cyst
29Tumor or mass causes Other conditions Placental choriocarcinoma Placental chorangiomaCystic hygromaIntussusceptionMeconium peritonitisIntracranial teratomaSacrococcygeal teratoma
30PathophysiologyIn immune hydrops, excessive and prolonged hemolysis causes anemia, which in turn stimulates marked marrow erythroid hyperplasiaIt also stimulates extramedullary hematopoiesis in the spleen and liver with eventual hepatic dysfunction
31Pathophysiology The precise pathophysiology of hydrops remains unknown Theories includesHeart failure form profound anemia and hypoxiaPortal hypertension due to hepatic parenchymal disruption caused by extramedullary hemopoiesisDecreased colloid oncotic pressure resulting from liver dysfunction and hypopreteinemia
32PathophysiologyThe degree and duration of anemia is the major factor causing and influencing the severity of ascitesSecondary 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
33PathophysiologySevere anemia Hepatic extramedullary hematopoeisis Decreased production of plasma proteins Decreased plasma COP
37PathophysiologyThere may be cardiac enlargement and pulmonary hemmorrhageFluid collects in the fetal thorax, abdominal cavity, or skinThe placenta is markedly edematous, enlarge, and boggy. It contains large, prominent cotyledons and edematous villi
38PathophysiologyPleural effusions may be so severe as to restrict lung development, which causes pulmonary compromise after birthAscites, hepatomegaly, and splenomegaly may lead to severe labor dystociaSevere hydropic changes are easily seen with sonography
39PathophysiologyFetuses with hydrops may die in utero from profound anemia and circulatory failureOne sign of severe anemia and impending death is the sinusoidal fetal heart rate patternHydrops placental changes leading to placentomegaly can cause preeclampsia
40PathophysiologyThe liveborn hydropic infant appears pale, edematous, and limp at birth and usually requires resuscitationThe spleen and liver are enlarged, and there may be widespread ecchymosis or scattered petechiaeDyspnea and circulatory collapse are common
44Associated 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.
45Associated complication Mirror syndromeThe mother develops preeclampsia along with severe edema that is similar to that of the fetusCaused by vascular changes in the swollen, hydropic placenta, this likely related to antiangiopenic factors produced by hyperplacentosis
46HistoryA history suggesting the presence of any of the following factors should trigger an extensive diagnostic study for hydrops fetalis:Maternal historyRh negative (d;d) blood typeKnown presence of isoimmune blood group antibodiesPrior administration of blood productsRisks of illicit drug use
47History Maternal history (cont.) Collagen-vascular disease Thyroid disease or diabetesOrgan transplant (liver, kidney)Blunt abdominal trauma (abuse, auto accident)CoagulopathyUse of indomethacin, sodium diclofenac, or potentially teratogenic drugs during pregnancyYounger (<16 y) or older (>35 y) maternal age
48History Maternal history (cont.) Risk factors for sexually transmitted diseasesHemoglobinopathy (especially with Asian or Mediterranean ethnicity)Occupational exposure to infants or young childrenPet catCurrent or recent community epidemic of viral illness
49History Family history Jaundice in other family members or in previous childFamily history of twinning (specifically, monozygotic)Family history of genetic disorders, chromosomal abnormalities, or metabolic diseasesCongenital malformation in previous childPrevious fetal death
50History Family history (cont.) Hydramnios in earlier pregnancies Prior hydrops fetalisPrevious fetomaternal transfusionCongenital heart disease in previous child
51PhysicalThe presence of any of the following maternal or fetal physical findings should prompt further diagnostic evaluation:TwinningHydramniosExanthem or other evidence of intercurrent viral illnessHerpetic lesion or chancreDecrease in fetal movements
52Laboratory StudiesDiagnostic 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.
53Maternal 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
54Maternal laboratory studies The search for maternal-fetal infectionSyphilis serologyAntibody screens for common fetal infectionstoxoplasmosis, other infections, rubella, CMV infection, and herpes simplex [TORCH]Hemoglobin electrophoresis for alpha-thalassemia heterozygosity
56Laboratory StudiesUltrasound - 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.
57Laboratory StudiesLevel 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.
58Laboratory 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 infectionsFetal percutaneous blood sampling for same and in addition fetal liver function; and metabolic testing if indicated.
59Laboratory StudiesIn the presence of a family history of an inheritable metabolic disorder or recurrent nonimmune hydrops test for :Storage disorders such as Gaucher’s, gangliosidosis, sialidosis, beta-glucuronidase deficiency, and mucopolysaccharidosisEnzyme analysis and carrier testing in parents and/or analysis of fetal or neonatal blood or urine.Histological examination of fetal tissues.Maternal thyroid antibodies
69Hydrocele can be an early manifestation in hydrops
70Soft Tissue shadow and pleural effusion in hydropic neonate
71Treatment Cause Treatment Fetal anemia Fetal blood sampling followed by in utero transfusionFetal ArrhythmiaMedications such as digoxin, sotalol, propanolol , flecainide, amiodaroneIntrinsic thoracic malformationsThoracentesis or thoracoamniotic shunt for pleural effusions in select casesTwin to twin transfusionFetoscopic laser ablation of communicating vesselsSyphilisPenicillin
72Treatment Transplacental drug therapy Drugs are given to the mother and are passed to the fetus through the placentaThe 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
73Treatment Direct fetal drug therapy Maternal administration of drugs may be ineffective due to:Maternal MetabolismMaternal Side EffectsVariable Passage Across PlacentaRoutes for direct fetal drug therapy:IntraperitonealIntramuscularIntravascular
74Treatment Invasive Procedures Blood / Albumin Transfusion to Fetus IntraperitonealIntravenousUmbilical VeinHepatic Vein
75Treatment Invasive Procedures Drainage Procedures:Large Pleural EffusionsAscitiesAll invasive procedures carry an inherent increased risk of fetal demise or pre-mature labor.
76CounselingLong 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.
77CounselingIf 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.
78AntepartumFollow 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.
79AntepartumConsultation 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.
80DeliveryThe 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
81DeliveryA 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 .
82A hydropic neonate under extensive intensive care