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ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES

ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES. BY JAMEEL A. AL-ATA CONSULTANT AND ASSISTANT PROFESSOR OF PEDIATRIC CARDIOLOGY. INTRODUCTION. Incidence of CHD is 6-8/1000 live births and about 1.5% in the fetus population.

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ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES

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  1. ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES BY JAMEEL A. AL-ATA CONSULTANT AND ASSISTANT PROFESSOR OF PEDIATRIC CARDIOLOGY

  2. INTRODUCTION • Incidence of CHD is 6-8/1000 live births and about 1.5% in the fetus population. • Nearly all types of postnatally diagnosed CHD types were diagnosed prenatally. • The more complex in utero CHD the more diagnosed and the simpler can be missed in utero (ASD, mild AS, mild PS). • Some CHD types are shown to evolve and progress in utero e.g Valvar AS. • 17-48% of in utero CHD is associated with chromosomal abnormalities (only 5-10% postnatally) and 20% with extracardiac malformations.

  3. INTRODUCTION, CON’T; • Fetal Echocardiography is an accurate diagnostic tool for CHD (85-90% sensitivity; 99% specificity) when using state of the art U/S technology and when pediatric cardiology/fetal medicine collaborates. • Routine obstetrical U/S is not a good screening test for CHD. It is both late (20-24 wks) and not comprehensive. • Indications include: DM, INFESTIONS, TERATOGENS ABN 4 CH VIEW, HX OF CHILD WITH CHD, CHROMOSOMAL ABN, EXT CARDIAC ABN, DEXTROCARDIA, SITUS INVERSUS, FETAL GROWTH RETARDATION AND FETAL ARRHYTHMIA.

  4. Fig. 5: Apical four chamber view of the fetal heart (LV, left ventricle; RV, right ventricle; LA, left atrium; RA, right atrium; MB moderator band; PV, pulmonary veins; Ao, descending aorta; S, fetal spine)

  5. IMPACT OF FETAL ECHOCARDIOGRAPHY

  6. ON EPIDEMIOLOGY • Malformations due to pregnancy termination True incidence of CHD is 1.0% (0.2-0.4% higher than detected postnatally). • Up to 48% of in utero CHD is associated with chromosomal anomalies and 20% with extracardiac malformations. • Possible decreased prevalence of subsets of CHD associated with severe extracardiac malformations.

  7. continue • In a recent study • one hundred and forty-nine fetuses with CHD and normal karyotype were analyzed. Seventy-six fetuses had conotruncal anomalies. • 22q11.2 deletion was present in 10 cases (6.7%), all of which had conotruncal anomalies (13.1%).

  8. continue • Thymic hypoplasia or absence was suspected in 11 cases with conotruncal anomaly. Nine of these 11 had the deletion; two cases were false positive. • One fetus with a normal-sized thymus had deletion of 22q11.2 (sensitivity 90%, specificity 98.5%, positive predictive value 81.8%, and negative predictive value 99.2%).

  9. ON FETAL & NEONATAL WELL-BEING • Timed delivery in tertiary care centers. • Decreased morbidity and perhaps better long term outcome of infants with semi lunar valves obstruction and/or ductal dependant lesions. • Intrauterine treatment (e.g. fetal arrhythmias). • Monitoring fetal well being during maternal trearment

  10. ON MANAGEMENT • Better prognostication and counseling. • Pregnancy termination at the appropriate time. • Better understanding of the pathophysiology and evolution of CHD.

  11. HOW TO GET A REAL IMPACT • Fetal echocardiographic screening at 11-14 weeks of gestation. • Screening of both low risk and high risk pregnancies. • Developing markers. • Collaboration and the use of state of art U/S with Doppler, color flow Doppler and power Doppler…..etc.

  12. Continuation; • Including the ventricular outflow tracts with the four chamber view in obstetrical U/S. • Training obstetrical technicians to do so. • Developing safe intra uterine interventional procedures.

  13. CONCLUSION • Fetal echocardiography main impact is on incidence and appropriate prenatal, perinatal treatment. • It is a demanding, yet, promising tool. • Sequential studies are needed to track evolving lesions. • Limitations include: operator level of expertise, technology, nature of CHD, number of collaborating centers, level of awareness and referrals……etc.

  14. a family history of congenital heart disease • an abnormal fetal heart rhythm • fetal heart abnormalities detected during a routine pregnancy ultrasound scan • abnormality of another major organ system • insulin-dependent (type 1) diabetes mellitus • exposure to some drugs in early pregnancy. For example, some anti-epileptic drugs can damage the developing heart. • abnormal amniocentesis (AM'ne-o-sen-TE'sis). This is abnormal amniotic fluid in the woman's uterus.

  15. THANK YOU

  16. Maternal Drug Exposure and Diseases • Women with seizure disorders taking anti-convulsantsWomen taking lithium for depressionWomen taking insulin for diabetesWomen who have phenylketonuriaWomen exposed to Rubella • Family History of Congenital Heart Disease • Previous child with CHD, new risk is 1 in 20 to 1 in 100Previous two children with CHD, new risk is 1 in 10 to 1 in 20Mother has CHD, new risk is as high as 1 in 5 to 1 in 20Father has CHD, new risk 1 in 30 • Increased Maternal Risk for Down Syndrome and Other Chromosomal Defects

  17. Chromosome abnormalities and CHD • Down syndrome • Trisomy 18 and Trisomy 13 • Turner's syndrome • Cri du chat syndrome • Wolf-Hirshhorn syndrome • DiGeorge syndrome (deletion 22q11) • Ultrasound -Identified Fetal Birth Defects of the Current Pregnancy

  18. Other Rare Genetic Diseases • Marfan syndrome • Smith-Lemli-Opitz syndrome • Ellis-van Creveld • Holt-Oram syndrome • Noonan syndrome • Mucopolysaccharidoses • Goldenhar syndrome (hemifacial microsomia) • William's syndrome • VACTERL association (tracheal and esophageal malformations associated with vertebral, anorectal, cardiac, renal, radial, and limb abnormalities).

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