Fetal marfan syndrome: Prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions

Abstract

Sonography was performed during the second trimester in two pregnancies at risk for the Marfan syndrome. In one, the limbs were significantly longer than expected ( p < 0.0025) and a diagnosis of the Marfan syndrome was established. Pathological examination of the fetus after pregnancy interruption showed typical foci of cystic medial necrosis in the ascending aorta.KEY WORDS Marfan, fetus Ultrasound Marfan Fetal Marfan

Prenatal Marfan syndrome: report of one case and review of the literature

“…The limbs of the fetus were significantly longer than expected and a diagnosis of Marfan was established. Pathological examination after pregnancy termination showed typical foci of cystic medial necrosis in the ascending aorta (Koenigsberg et al, 1981). An interesting feature regarding prenatal cardiac evaluation of Marfan syndrome, found in our case, is an aneurysmal pulmonary trunk with functional pulmonary atresia.…”

Prenatal diagnosis of Marfan syndrome

“…In our case, the only possible sonographic markers at 22 weeks' gestation were a femur length > 95 th percentile and mild tricuspid regurgitation; however, a presumptive diagnosis was missed as the parents did not show any signs of MS. In contrast, more than 20 years ago, the family history prompted the correct diagnosis in a case with similar markers 9 . Whether the mild tricuspid regurgitation in our case was a coincidence or a causally related finding is therefore difficult to establish as mild tricuspid regurgitation occurs in up to 6% of normal fetuses in the second trimester 11 .…”

“…In one case dating from 1981 the diagnosis was established at 24 weeks because of significantly lengthened limbs in a mother with a previously affected child. No echocardiographic findings were described, but autopsy demonstrated grossly normal cardiac anatomy and only microscopic changes in the aorta 9 . The four other reported cases were detected at 29, 33, 34 and 37 weeks on the basis of abnormal echocardiographic findings, including cardiomegaly, atrioventricular valve insufficiency and dilatation of the outflow tracts 6 -8,10 .…”

Echocardiographic diagnosis of fetal marfan syndrome at 34 weeks' gestation

“…Most cases are diagnosed in adolescence or adulthood because of the clinical appearance, development of mitral valve prolapse, or sudden death secondary to aortic rupture. Prolapse of the mitral valve with regurgitation is an unusual diagnosis in a fetus, as is the diagnosis of Marfan syndrome (Koenigsberg et al, 1981). To our knowledge, this is the first case of prenatal diagnosis of Marfan syndrome based on ultrasound demonstration of cardiovascular abnormalities.…”