first and early second trimester diagnosis of fetal heart disease 성균관의대 소아과...
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First and Early Second Trimester Diagnosis of
Fetal Heart Disease
성균관의대 소아과삼성제일병원 진단방사선과
민 지 연
Early confirmation of normal cardiac anatomy
Further testing, such as karyotyping Pharmacologic therapy Planned delivery Reduce early morbidity and mortality Earlier and safer termination
Benefits of Early Fetal ECHO
Sonoembryology & Embryography
Heart beat; 6 wks (CRL 5.5 mm) Septa, arterial & venous connection; after 8 wks The mitral and tricuspid valve; 9-10 wks
7.5 wksCRL; 1.5 cm
Aorta; end of 9 wks, larger than PA AP position of IVS; prior to 11 wks Brachiocephalic & carotid arteries; 12 wks
Sonoembryology & Embryography
sp sp
11.5 wksCRL; 5.8 cm
LVOT, RVOT, Aortic arch with arterial duct; 13 wks Complete four-chamber view; 13-14 wks (12 wks)
Sonoembryology & Embryography
13.4 weeksCRL; 7 cm
sp
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Transvaginal Ultrasonography
5-9 MHz Transvaginal probe 11-14 wks For fetal heart
11-14 weeks, TVS 15-18 weeks,
TVS=TAS > 18 weeks, TAS
TAS
TVS
Early diagnosis of CHD Complex cardiac anomalies Lesions with early chamber disproportion Defects that are significant in size and/or
severity Limitation
Small size Difficulties in spatial orientation Limited range of imaging planes
transabdominal sonography in 2nd trimester
Transvaginal Ultrasonography
Situs solitusDextrocardiaCorrected TGAFunctional single ventriclePulmonary stenosis
13 weeksCRL; 8 cm
R
L
sp
12 weeks, CRL; 6 cm NT; 4 mm
MesocardiaRight Isomerism
ST
R
L
sp
R
Lsp
12.5 weeksTOF
Non-invasive first trimester US screening
Fluid collection at back of neck measured
11-14 wks
Nuchal Translucency (NT)
Combination of maternal age & NT; 80% detection rate for Down syndrome at 5% false positive rate
Prevalence higher than normal Major cardiac defects Diaphragmatic hernia Exomphalos Body stalk anomaly Fetal akinesia
Nuchal Translucency Screening
29,154 fetuses with normal chromosomes
Prevalence of major cardiac defects< 95th percentile 0.8> 95th percentile-3.4 mm 5.33.5-4.4 mm 28.94.5-5.4 mm 90.9> 5.5 mm 195Total 1.7 per 1000
NT & Cardiac Defects
NT, Possible Mechanism
Cardiac failure not supported by range of CHD
no evidence in 2nd trimester of heart failure
BUT myocardial dysfunction in the 1st trimester?
Abnormal Doppler pattern (absence or reversal during atrial contraction); 90% of cases with chromosomal anomalies
NT & Ductus Venosus
Normal Absent A Reversed A
NT & Ductus Venosus
Abnormal DV flow in euploid fetuses with increased NT helps to identify those with underlying CHD
142 euploid fetuses with increased NT
Major CHD in 7/11 with abnormal flow
No CHD in 131 fetuses with normal flow
NT, Other Possible Mechanism
Venous congestion in head and neck
Failure of lymphatic drainage if impaired fetal movement
Abnormal or delayed development of lymphatic system
Altered composition of subcutaneous connective tissue
Embryonic & Fetal Heart Rate
Suspicion of CHD; cardiac decompensation Spontaneous abortion
Precautions & Recommendations
Difficulties in pathological confirmation More complex, more severe
hemodynamic disturbance, frequent spontaneous miscarriage
Considerable experience 13–15 weeks’ gestation High-risk patients