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.

6. 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)

11. IMPACT OF FETAL ECHOCARDIOGRAPHY

12. 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.

13. 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%).

14. 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%).

15. 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

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

17. 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.

18. 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.

19. 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.

20. 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.

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

26. 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

27. 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).