Fetal echocardiography as a predictor of chromosomal abnormality

Chromosome 22q11 microdeletion and congenital heart disease - a survey in a paediatric population

“…However, the frequency of 22q11 microdeletion in our series is similar to that found in a series of CHD detected prenatally on ultrasound (2 of 122 fetuses in whom other chromosome aneuploidies were excluded) [17]. If patients with selected cardiac malformations only are studied (out¯ow tract abnormalities except transposition of the great arteries, or double outlet right ventricle with subpulmonary ventricular septal defect or isomerism), then a higher proportion of 22q11 deletions is likely to be found (17%) [21].…”

Fetal echo cardiography: the state of the art of the state of the heart

“…Heart defects in the newborn are associated in 12% of cases with aneuploidies (Baltimore Washington Infant Study), as opposed to double this number (20 -25%) in the fetus 80,81 . Initially, the detection of a CHD on screening implied the determination of the fetal karyotype, but very soon targeted fetal echocardiography was used as a tool in groups at high risk for aneuploidy.…”

Fetal cardiac abnormalities and their association with aneuploidy

“…Reports from the medical literature suggest that the incidence of chromosomal abnormalities in fetuses with congenital heart disease is significantly higher than the 5-10 per cent incidence found in infants postnatally and ranges from 17-25 per cent (Touati et al, 1988;Allan et al, 1994;Raymond et al, 1997) and in some series being as high as 48 per cent (Paladini et al, 1993). Discrepancy between the incidence of chromosomal abnormalities associated with prenatal heart disease compared with that of postnatal series can partly be explained by the propensity towards spontaneous fetal loss in chromosomally abnormal fetuses.…”

“…Easily detectable lesions such as a complete atrio-ventricular septal defect which feature strongly in prenatal series are closely associated with abnormal chromosome results in up to 63 per cent of cases (Raymond et al, 1997). The most common of these is trisomy 21 but other trisomies, including 18 and 13, are often associated with cardiac defects that are detectable either on four-chamber view screening or on more detailed fetal echocardiography.…”

“…The fact that the risk of chromosomal abnormalities in association with fetal heart disease has been shown to be high, has prompted the suggestion that fetal karyotyping should be offered routinely whenever a cardiac defect is detected antenatally (Raymond et al, 1997;Copel et al, 1988). In the majority of cases of fetal heart disease, the risk of a chromosomal abnormality is probably greater than the risk of miscarriage associated with invasive testing.…”