Transcript 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.
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.
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.
Table 1: Sensitivity of ultrasound by type of
anomaly in 4615 malformations
Prevalence (%)
Anomaly
of all anomalies
Central nervous
16
system
Cardiovascular
21
Muscoloskeletal
23
Urinary tract
21
Digestive system
5
Cleft lip & palate
7
Total
100
Sensitivity
88
28
37
88
54
18
56
Table 4: Accuracy of prenatal diagnosis of
congenital heart disease43
Author
(year)
n
screened
n
CHD
Sensitivity
(%)
Specificity
(%)
Positive
predictive
value (%)
Negative
predictive
value (%)
Allan
(1984)
1200
34
87.5
99.8
94.5
99.6
Copel
(1986)
266
14
100
100
100
100
Steward
(1987)
2060
109
88
99.7
96
99.3
Benacerraf
(1987)
-
49
57
100
-
-
Crawford
(1988)
989
91
81.3
100
98.6
98
Bromley
(1992)
-
69
83
-
-
-
Todrus
2120
79
86
99.7
92
99.4
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)
IMPACT OF FETAL
ECHOCARDIOGRAPHY
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.
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%).
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%).
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
ON MANAGEMENT
Better prognostication and counseling.
Pregnancy termination at the appropriate
time.
Better understanding of the pathophysiology
and evolution of CHD.
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.
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.
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.
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.
THANK YOU
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
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
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).