1 / 27

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.

tao
Télécharger la présentation

ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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).

More Related