Prepare for the Fetal Echocardiography Test. Utilize flashcards and multiple-choice questions that come with hints and explanations. Ace your exam preparation!

Multiple Choice

Which chromosomal syndromes are commonly associated with congenital heart defects identified antenatally?

Turner syndrome is the chromosomal condition most classically linked with congenital heart defects identified on fetal imaging. The heart defects most characteristic in this setting are coarctation of the aorta and bicuspid aortic valve, with other aortic root anomalies also seen. Because these CHD patterns are so consistently associated with monosomy X, Turner is the strongest and most useful association to consider when a prenatal echocardiogram detects a heart defect. While other chromosomal abnormalities such as 22q11.2 deletion or trisomies can have cardiac involvement, the antenatal CHD patterns they produce are less specific and less consistently identified, making Turner the best fit for this question. It’s also important to recognize that monosomy X refers to Turner syndrome, so the association remains the same.

Turner syndrome is the chromosomal condition most classically linked with congenital heart defects identified on fetal imaging. The heart defects most characteristic in this setting are coarctation of the aorta and bicuspid aortic valve, with other aortic root anomalies also seen. Because these CHD patterns are so consistently associated with monosomy X, Turner is the strongest and most useful association to consider when a prenatal echocardiogram detects a heart defect. While other chromosomal abnormalities such as 22q11.2 deletion or trisomies can have cardiac involvement, the antenatal CHD patterns they produce are less specific and less consistently identified, making Turner the best fit for this question. It’s also important to recognize that monosomy X refers to Turner syndrome, so the association remains the same.