Pr enataldia gnosis of fetalhear t anomalies Ultrasound screening Bogdan M. Muresan
The incidence of CHD (Congenital HeartDisease) is around 8 to 9 per 1000 livebirths If all subtle cardiac anomalies are counted (bicuspid Ao valve, aneurysm of atrial septum and LSVC persistent) may be in order of 50 per 1000 live births. The suspicion for CHD during a routine ultrasound is a risk factor with highest yield for CHD (40 to 50%)
The majority of fetuses with CHD have no knownrisk factors.SCREENING for CHD to every pregnant women -routine scan: nuchal scan (12 weeks) andanomalies scan (20-22 weeks) Risk factors for CHD Fetal: chromosomal abnormalities, extracardiac anatomic abnormalities, fetal cardiac arrhytmia, suspected cardiac anomaly on routine ultrasound, thickened nuchal translucency, monochorionic placentation; Maternal: family history of CHD, maternal metabolic disorders (diabetes, phenylketonuria), maternal teratogen exposure, pregnancy from assisted reproduction techniques, maternal obesity Alferd Abuhamad, Rabih Chaoui: A Practical Guide to Fetal Echocardiography
Nuchal scan (11-13WG)soft markers for aneuploidies and CHD (in euploid cases): NT thickened; TR regurgitation; DV with “a” reverse
CASE: 8 weeks pregnancy - refferal for a “problem”?
3D image revealed normal fetal anterior wall(there is no place for “ectopia cordis”)
Nuchal scan(CRL between 45-84 mm or 11-13 WG)Normal midsagital view – fetal profile (NT, FMFangle, nasal bone, intracerebral translucency)
Normal fetal anterior wall: umbilical cord insertion and heart localisation
Good result at nuchal scan: PAPP-A, freeBetaHCG, NT Combined risk assessment (risk forchromosomal abnormalities under 1/1000)
New soft markers in nuchal scan: nasalbone, FMF angle, Tricuspid and DV flow(routinely)The presence of Tricuspid regurgitation –it is associated with chromosomalabnormalities and high risk for CHD ineuploid fetuses)
Possible AVSD(if it is present - increases T21 riskto ¼ and karyotyping is necessary)
After 10 days we performed a fetal echocardiography AVSD ???
Management We offer karyotyping (CVS or If karyotype is normal: amniocentesis) search for 22q11 because it is frequent microdeletion (di associated with George) chromosomal abnormalities – Cardiologist solution T13,18). Poor (search for real CHD at prognosis: 18-20 weeks and extracardiac anomalies prognosis depends on possible Abnormal karyotype: lesions/extracardiac we offer TOP anomalies
“ Ultrasound anomaliesscan” at any pregnancyages ? Patient was referred for other reason (in this case) Look and question for every possible anomalies Have always suspicions To recognize the limits of ultrasound to asses fetal anatomy at every age of gestation