PERINATOLGY -SONOGRAPHY

DR J.P.SONI M.D PEDIATRIC ASSOCIATE PROF.

DR S.N. MEDICAL COLLEGEJODHPUR

Update of Fetal therapy

DR J.P.SONI M.D PEDIATRIC PROF.

DR S.N. MEDICAL COLLEGEJODHPUR

FETAL THERAPY

fetoscopy

Intra – uterine fetal blood transfusion

Fetal surgery

Fetal therapy

Atherapeutic interventionfor the purpose ofcorrecting or treating afetal anomaly orcondition is called fetaltherapy.

Fetal therapy

Personals required for it are –

ObstetricianPediatricianAnesthetists

UltrasonologistNeurosurgeon

Social worker etc.

Fetal therapy

Tools required for it are –

Ultrasound machine

MRI

Fetoscope

laser machine etc.

Fetal therapy

Pharmacological fetal therapy –

(noninvasive)

• Surgical fetal therapy -

(Invasive)

Fetal therapy

Pharmacological fetal therapy –

Preventive pharmacotherapy

Therapeutic pharmacotherapy

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

PREVETION OF HMD IN PRETERM NEONATES

The high riskpregnancyassociated 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.

Fetal therapy

Therapeutic pharmacotherapy

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.

PSVT; ATRIAL FLUTTER & FIBRILLATION

Digoxin : Oral- fetus is normal.

If fetus have feature of hydrops

Digoxin is given either parenteral

orTransplacental, 0.5- 1 mg

Adenosine :Per umbilical0.05 to 0.2mg

Flecanide : oral 200-300mg

Amiodarone : parenteral600-800mg

Sotatlol : oral; 80-320 mg

COMPLETE A-V BLOCK - CAVB

Prevalence: 1/15,000- 1/22,000 livebirth.

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%.

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 βagonist

weekly follow up by obstetrician with fetal

echocardiography

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.

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.

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

Premature ventricular contraction in fetus

a benign condition either resolve spontaneously

beforeBirth or after birth of baby.

If number of PVC is more, and fetus

Develop Hydrops: -than β blocker can be

Used orally.

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

FETAL THYROID GOITERRxFETAL CORD BLOOD FOR THYROID STATUSTSH,T3,T4

IF HYPERTHYRODISMRx - CARBIMAZOLE

METHIMAZOLE

IF HYPOTHYRODISM

BETWEEN 29-37 WEEKS 250-500 mg LEVOTHYROXININTRA AMNIOTIC WEEKLYTHIS WILL RESULT INREGRESSIONOF THYROID GOITER

CONGENITAL ADRENAL HYPERPLASIA

Congenital adrenal hyperplasia (CAH) is a family disordercaused by reduced activity of enzymes required for cortisolbiosynthesis 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 itmay occur in up to 3% of individuals in certain groups.

CONGENITAL ADRENAL HYPERPLASIA

Clinical consequences of 21-OH deficiencyarise primarily from overproduction andaccumulation of precursors proximal to the blockedenzymatic step.

These precursors are shunted into the androgenbiosynthesis pathway, producing virilization inthe female fetus or infant and rapid postnatalgrowth with accelerated skeletal maturation,precocious puberty, and short adult stature in bothmales and females

CONGENITAL ADRENAL HYPERPLASIA

Treatment should begun as early as the 4th to 6th week ofpregnancy.

The dose of dexamethasone usually ranged between 0.5 and2 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 forCYP21B,C4 & HLA class I & II genes.

Then treatment is continued to term in female positive forgenes and stoped in male after confirmation of diagnosis byCVS or Amniocentesis.

At birth, the external genitalia is normal in the infant whose motherwas given dexamethasone and minimally virilized in the infantwhose mother received hydrocortisone.

Fetus with maternal SLE

If mother is suffering from SLE, thenfetus is at risk to develop Completeheart block because of damage to AVnode. This can be prevented bygiving Tab Dexamethasone 4 mg perday during pregnancy because itcannot be metaboized by placentaand is Available to the fetus in anactive form.

Invasive fetal therapy

1961Intra uterine blood transfusion

Invasive fetal therapy

1961Intra uterine blood transfusion

The fetal anemia now can be predicted bydoing middle cerebral

Artery doppler flow study and

intra uterinetransfusion (IUT) is done with

gamma Irradiated blood.

FETAL ANEMIA -Rh allo-immunization & parvovirus B19 - Doppler

assessment of Middle cerebral artery peak velocity and prediction of fetal anemia.

INTRAUTERINE FETAL TRANSFUSION

CORDOCENTESIS/ IUT if MCA peak velocity MoM = >1.5 or MCA peak velocity in “A” zone of below depicted graph.

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

. 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.

Intra uterine blood transfusion

FETOSCOPY

1970

Fetoscopy is performed during the second trimester (after 16weeks’ gestation).

In this technique, a fine-caliber endoscope is inserted into theamniotic cavity through a small maternal abdominal incision,under sterile conditions and ultrasound guidance, for thevisualization of the embryo to detect the presence of subtlestructural abnormalities

Fetal visualization Embryoscopy

Embryoscopy is performed in the first trimester of pregnancy (upto 12 weeks’ gestation).In this technique, a rigid endoscope is inserted via the cervix in thespace between the amnion and the chorion, under sterile conditionsand ultrasound guidance, to visualize the embryo for the diagnosisof structural malformations.

◦ 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.

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.

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

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.

Pleural effusion

One option in themanagement of fetuses withpleural effusion isthoracocentesis and drainageof the effusions. However, inthe majority of cases thefluid reaccumulates within24-48 hours requiringrepeated procedures and it istherefore preferable toachieve chronic drainage bythe insertion of pleural-amniotic shunts.

GENE THERAPY

Means replacement of missing gene by introduction of foreignNucleic 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 genomeTo replace an abnormal, disease causing gene.

A carrier molecule called a vector (virus- lenti virus) must beused to deliver the therapeutic gene to the patient’s target cells

There have been several modes of genedelivery used in experimental efforts at fetalgene transfer. These includeintratracheal, intravascular, intraventricular,intracardiac, intraperitoneal, intraplacental,intramuscular and intra-amniotic injection.Intra-amniotic gene transfer (IAGT) hasbeen used to target organs exposed toamniotic fluid, that is, the skin, amnioticmembranes and the respiratory anddigestive systems