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Fetal therapy

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fetal therapy - noninvasive and invasive fetal therapy

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Fetal therapy

  1. 1. PERINATOLGY - SONOGRAPHY DR J.P.SONI M.D PEDIATRIC ASSOCIATE PROF. DR S.N. MEDICAL COLLEGE JODHPUR
  2. 2. Update of Fetal therapy DR J.P.SONI M.D PEDIATRIC PROF. DR S.N. MEDICAL COLLEGE JODHPUR
  3. 3. FETAL THERAPY fetoscopy Intra – uterine fetal blood transfusion Fetal surgery
  4. 4. Fetal therapy A therapeutic intervention for the purpose of correcting or treating a fetal anomaly or condition is called fetal therapy.
  5. 5. Fetal therapy Personals required for it are – Obstetrician Pediatrician Anesthetists Ultrasonologist Neurosurgeon Social worker etc.
  6. 6. Fetal therapy Tools required for it are – Ultrasound machine MRI Fetoscope laser machine etc.
  7. 7. Fetal therapy Pharmacological fetal therapy – (noninvasive) • Surgical fetal therapy - (Invasive)
  8. 8. Fetal therapy Pharmacological fetal therapy – Preventive pharmacotherapy Therapeutic pharmacotherapy
  9. 9. Preventive pharmacotherapy  All the women planning a pregnancy should be given folic acid in dose 0.4mg/day for at least one month.  Women with a prior child with NTD , should receive folic acid 4 mg/day for at least one month preconceptually and three months after the pregnancy. Neural tube defects
  10. 10. PREVETION OF HMD IN PRETERM NEONATES  The high riskpregnancy associated with risk of preterm delvary should be given steroid at least 48 hours before delivary so as to accelerate lung maturity as well as renal maturity.  Dose:  Betamethasone 12 mg twice at 24 hours interval  or • Dexona 6 mg at 12 hours interval , for total 4 doses are give • This will reduce need of surfactant and ventilatory therapy to baby.
  11. 11. Fetal therapy  Therapeutic pharmacotherapy
  12. 12. CARDIAC  Cardiac arrhythmia-  PSVT  ATRIL FLUTTER  ATRIAL FIBRILLATION  AND VENTRICULAR TACHY-CARDIA can be treated by giving anti-arrhythmic drugs to mother orally or by trans-placental route.
  13. 13. PSVT; ATRIAL FLUTTER & FIBRILLATION Digoxin : Oral- fetus is normal. If fetus have feature of hydrops Digoxin is given either parenteral or Transplacental, 0.5- 1 mg Adenosine :Per umbilical 0.05 to 0.2mg Flecanide : oral 200- 300mg Amiodarone : parenteral 600-800mg Sotatlol : oral; 80-320 mg
  14. 14. COMPLETE A-V BLOCK - CAVB  Prevalence: 1/15,000- 1/22,000 live birth.  Path-physiology :  The fetal mortality rate of isolated CAVB may be as much as 30- 50%. Patients diagnosed and treated in the neonatal period have a survival rate of 94%, and patients who are diagnosed and treated in childhood have a survival rate of 100%.
  15. 15. Fetus with isolated Complete A –V block Rx  HR > 55/min with normal LV function  Rx Dexamethasone - orally to mother • HR < 55/min with abnormal LV function • Rx Dexamethasone - orally with β agonist weekly follow up by obstetrician with fetal echocardiography
  16. 16. COMPLETE FETAL A – V BLOCK AA A A A At the time of diagnosis of heart block in FETUS maternal dexamethasone (4 or 8 mg/d for 2 weeks, Then 4 mg/day should be initiated maintained for the duration of the pregnancy, tapering at times (2 mg/d) in the third trimester. If the average heart rate declined below 55 bpm, A ß-sympathomimetic agent should be given salbutamol 40mg/ day for 2 weeks.
  17. 17. COMPLETE FETAL A – V BLOCK AA A A A In the presence of maternal anti-Ro/La antibodies , there are no known markers that will predict which fetus will develop an AV conduction defect. Little evidence suggests that the administration of steroids, immunoglobulins or plasmapheresis in the mother can reverse third-degree AV block. However, these therapies are helpful if given in early to Rx first-degree and second-degree heart block.
  18. 18. Fetus with isolated Complete A –V block Rx  Delivary at tetriary care center  Uneventful fetal course - LSCS at 37 wks  If fetus develop hydrops- Paracentesis  LSCS  low CO out - Immediate Pacing  Isoprenline  features of SLE - oral prednisolone  Endocardial fibroelastosis – I V IgG
  19. 19. Premature ventricular contraction in fetus a benign condition either resolve spontaneously before Birth or after birth of baby. If number of PVC is more, and fetus Develop Hydrops: - than β blocker can be Used orally.
  20. 20. Ventricular tachycadrdia  Fetal therapy for VT is administration of β – blocker Flecanide = 200-300mg/Day orally And Amiodarone = 600-800mg/day I.V. to mother
  21. 21. FETAL THYROID GOITER Rx FETAL CORD BLOOD FOR THYROID STATUS TSH,T3,T4 IF HYPERTHYRODISM Rx - CARBIMAZOLE METHIMAZOLE IF HYPOTHYRODISM BETWEEN 29-37 WEEKS 250-500 mg LEVOTHYROXIN INTRA AMNIOTIC WEEKLY THIS WILL RESULT IN REGRESSION OF THYROID GOITER
  22. 22. CONGENITAL ADRENAL HYPERPLASIA Congenital adrenal hyperplasia (CAH) is a family disorder caused by reduced activity of enzymes required for cortisol biosynthesis in the adrenal cortex. The most common defect is 21-hydroxylase (21-OH) deficiency, which accounts for >90% of all cases of CAH. Classic 21-hydroxylase deficiency is found in about 1:12 000 to 1:15 000 births. The frequency of nonclassic deficiency is unknown, although it may occur in up to 3% of individuals in certain groups.
  23. 23. CONGENITAL ADRENAL HYPERPLASIA Clinical consequences of 21-OH deficiency arise primarily from overproduction and accumulation of precursors proximal to the blocked enzymatic step. These precursors are shunted into the androgen biosynthesis pathway, producing virilization in the female fetus or infant and rapid postnatal growth with accelerated skeletal maturation, precocious puberty, and short adult stature in both males and females
  24. 24. CONGENITAL ADRENAL HYPERPLASIA Treatment should begun as early as the 4th to 6th week of pregnancy. The dose of dexamethasone usually ranged between 0.5 and 2 mg/d or O.3 to o.7 mg/sq m in 1 to 4 divided doses. CVS 11-12 wks & AMNIOCENTESIS at 15 wks for DNA analysis for CYP21B,C4 & HLA class I & II genes. Then treatment is continued to term in female positive for genes and stoped in male after confirmation of diagnosis by CVS or Amniocentesis. At birth, the external genitalia is normal in the infant whose mother was given dexamethasone and minimally virilized in the infant whose mother received hydrocortisone.
  25. 25. Fetus with maternal SLE If mother is suffering from SLE, then fetus is at risk to develop Complete heart block because of damage to AV node. This can be prevented by giving Tab Dexamethasone 4 mg per day during pregnancy because it cannot be metaboized by placenta and is Available to the fetus in an active form.
  26. 26. Invasive fetal therapy 1961 Intra uterine blood transfusion
  27. 27. Invasive fetal therapy 1961 Intra uterine blood transfusion The fetal anemia now can be predicted by doing middle cerebral Artery doppler flow study and intra uterine transfusion (IUT) is done with gamma Irradiated blood.
  28. 28. FETAL ANEMIA  -Rh allo-immunization & parvovirus B19 - Doppler assessment of Middle cerebral artery peak velocity and prediction of fetal anemia.
  29. 29. INTRAUTERINE FETAL TRANSFUSION  CORDOCENTESIS/ IUT if MCA peak velocity MoM = >1.5 or MCA peak velocity in “A” zone of below depicted graph.
  30. 30. VOLUME OF BLOOD TO BE GIVEN TO FETUS IS CALCULATED BY Fetoplacental volume X (desired Ht – Fetal Ht) = ------------------------------------------------------ Donor hematocrit Feto placental volume = USG estimated weight of fetus X 0.14
  31. 31. . The amount of blood given to fetus is 20,30,40 and 50 ml to the fetus at 22,26,30 and 35 weeks of gestational age respectively.
  32. 32. Intra uterine blood transfusion
  33. 33. F E T O S C O P Y 1970
  34. 34. Fetoscopy is performed during the second trimester (after 16 weeks’ gestation). In this technique, a fine-caliber endoscope is inserted into the amniotic cavity through a small maternal abdominal incision, under sterile conditions and ultrasound guidance, for the visualization of the embryo to detect the presence of subtle structural abnormalities Fetal visualization Embryoscopy Embryoscopy is performed in the first trimester of pregnancy (up to 12 weeks’ gestation). In this technique, a rigid endoscope is inserted via the cervix in the space between the amnion and the chorion, under sterile conditions and ultrasound guidance, to visualize the embryo for the diagnosis of structural malformations.
  35. 35. ◦ An injection will be given in the lower abdomen to numb the skin where the fetoscope will be inserted. ◦ An ultrasound will be used to determine the position of both the fetus and the placenta.
  36. 36.  The fetus is seen through a small incision made in the belly, and a fetal ultrasound guides the placement of the fetoscope.  A camera is attached to the fetoscope to take pictures.
  37. 37. TWIN TO TWIN TRANSFUSION IN MONOCHORIONIC TWIN  Rx INDOMETHACIN  LASER COAGULATION OF A-V ANASTOMOSES Laser coagulation of A –V malformation in case of twin to twin transfusion
  38. 38. Congenital diaphragmatic hernia Rx Initial approach to treat CDH was - tracheal occlusion by clips on the trachea. It is now performed with intra-tracheal inflatable balloon. The balloon is inserted at 26 to 28 weeks and removed at 34 weeks.
  39. 39. Pleural effusion One option in the management of fetuses with pleural effusion is thoracocentesis and drainage of the effusions. However, in the majority of cases the fluid reaccumulates within 24-48 hours requiring repeated procedures and it is therefore preferable to achieve chronic drainage by the insertion of pleural- amniotic shunts.
  40. 40. GENE THERAPY Means replacement of missing gene by introduction of foreign Nucleic acid sequence. It is divided into two categories, classic gene therapy and stem cell gene therapy. In most gene therapy a normal gene is inserted into genome To replace an abnormal, disease causing gene. A carrier molecule called a vector (virus- lenti virus) must be used to deliver the therapeutic gene to the patient’s target cells
  41. 41. There have been several modes of gene delivery used in experimental efforts at fetal gene transfer. These include intratracheal, intravascular, intraventricular, intracardiac, intraperitoneal, intraplacental, intramuscular and intra-amniotic injection. Intra-amniotic gene transfer (IAGT) has been used to target organs exposed to amniotic fluid, that is, the skin, amniotic membranes and the respiratory and digestive systems

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