First and Early Second Trimester Diagnosis of Fetal Heart Disease 성균관의대 소아과 삼성제일병원 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 wks CRL; 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 11.5 wks CRL; 5.8 cm

LVOT, RVOT, Aortic arch with arterial duct; 13 wks Complete four-chamber view; wks (12 wks) Sonoembryology & Embryography 13.4 weeks CRL; 7 cm sp

Transvaginal Ultrasonography 5-9 MHz Transvaginal probe wks For fetal heart  weeks, TVS  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 2 nd trimester Transvaginal Ultrasonography

Situs solitus Dextrocardia Corrected TGA Functional single ventricle Pulmonary stenosis 13 weeks CRL; 8 cm

R L sp 12 weeks, CRL; 6 cm NT; 4 mm Mesocardia Right Isomerism

ST R L sp R L 12.5 weeks TOF

Non-invasive first trimester US screening Fluid collection at back of neck measured 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 < 95 th percentile 0.8 > 95 th percentile-3.4 mm mm mm90.9 > 5.5 mm 195 Total 1.7 per 1000 NT & Cardiac Defects

NT, Possible Mechanism Cardiac failure  not supported by range of CHD  no evidence in 2 nd trimester of heart failure  BUT myocardial dysfunction in the 1 st 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