First and Early Second Trimester Diagnosis of Fetal Heart Disease

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

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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

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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

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12 weeks, CRL; 6 cm NT; 4 mm

MesocardiaRight Isomerism

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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