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P14.21: Prenatal diagnosis of Noonan syndrome: a case report

2004; Wiley; Volume: 24; Issue: 3 Linguagem: Inglês

10.1002/uog.1621

1469-0705

M. M. Mesquita, Mariano Barreiro, C. Dias, Lucas Antônio Miranda Ferreira, F. Taborda, Aleixo Pestana, Eliziane Cossetin Vasconcelos, A. Ferreira,

Congenital Anomalies and Fetal Surgery

Cystic hygroma is a common phenotypic expression of fetal chromosomal defects and genetic syndromes. The authors report a case of a 30-year-old woman, presented for her first sonogram at 12 weeks' gestation a fetus with a small septated cystic hygroma. Amniocentesis revealed a normal male karyotype. Subsequent evaluation at 22 weeks' gestation revealed persistence of cystic hygroma and hypertrophy of the ventricular walls which was confirmed by the echocardiography. At 32 weeks' gestation, the ultrasonography revealed bilateral pleural effusion, skin edema, polyhydramnios and the echocardiography showed a hypertrophic cardiomyopathy associated with pericardial effusion. A caesarean section was performed. Upon examination of the neonate, the following congenital abnormalities were noted: macrocephaly, coarse facies, downslanting palpebral fissures, epicanthal folds, short nose, hypertelorism, low-set ears, low posterior hairline, short neck with redundant nuchal skin, lymphedema, short stature, hyperpigmentation of scrotal and hepatoesplenomegaly. There are numerous reports of fetuses with cystic hygroma diagnosed sonographically, many of which have chromosomal abnormalities. However Noonan syndrome should be part of the differential diagnosis when cystic hygromas are identified antenatally with normal karyotype. The diagnosis of Noonan syndrome was given serious consideration prenatally based on the sonographic findings of septated cystic hygroma, pleural effusion, polyhydramnios and cardiac defects, such hypertrophic cardiomyopathy, normal karyotype and the other physical findings which were described.