ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES

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ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL
HEART DISEASES

• BY JAMEEL A. AL-ATA CONSULTANT AND ASSISTANT
  PROFESSOR OF PEDIATRIC CARDIOLOGY

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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.

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INTRODUCTION, CONT

• 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.

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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)
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IMPACT OF FETAL ECHOCARDIOGRAPHY
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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.

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• 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).

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• 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).

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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

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ON MANAGEMENT

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

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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.

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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.

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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
  referralsetc.

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• 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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THANK YOU
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• 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

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• 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

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• 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).