TY - JOUR
T1 - Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype
AU - Bakker, M.
AU - Pajkrt, E.
AU - Mathijssen, I. B.
AU - Bilardo, C. M.
PY - 2011
Y1 - 2011
N2 - Objective: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. Methods: We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic features of Noonan syndrome fetuses. Information was pooled to define the most common features. Results: In our database, we identified three cases of Noonan syndrome. The diagnosis was suspected prenatally in two of them. Thirty-nine cases were identified in the literature. In the presented cases we show that suspicion of Noonan syndrome should arise when, after an increased nuchal translucency, ultrasound investigation in the second trimester shows a persistant nuchal fold (NF) or cystic hygroma in combination with at least one of the following features: hydrops fetalis, pleural effusion, cardiac anomalies, polyhydramnios or specific facial abnormalities. Conclusion: Prenatal ultrasound findings in Noonan syndrome can be subtle and aspecific, but when specific characteristics are present additional targeted DNA analysis is indicated. © 2011 John Wiley & Sons, Ltd.
AB - Objective: To define sonographic criteria that may improve the prenatal diagnosis of Noonan syndrome by targeted DNA testing. Methods: We searched our Fetal Medicine Unit records for all cases with a final diagnosis of Noonan syndrome. A literature review was undertaken to identify the sonographic features of Noonan syndrome fetuses. Information was pooled to define the most common features. Results: In our database, we identified three cases of Noonan syndrome. The diagnosis was suspected prenatally in two of them. Thirty-nine cases were identified in the literature. In the presented cases we show that suspicion of Noonan syndrome should arise when, after an increased nuchal translucency, ultrasound investigation in the second trimester shows a persistant nuchal fold (NF) or cystic hygroma in combination with at least one of the following features: hydrops fetalis, pleural effusion, cardiac anomalies, polyhydramnios or specific facial abnormalities. Conclusion: Prenatal ultrasound findings in Noonan syndrome can be subtle and aspecific, but when specific characteristics are present additional targeted DNA analysis is indicated. © 2011 John Wiley & Sons, Ltd.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=80051936031&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/21706501
U2 - https://doi.org/10.1002/pd.2782
DO - https://doi.org/10.1002/pd.2782
M3 - Article
C2 - 21706501
SN - 0197-3851
VL - 31
SP - 833
EP - 840
JO - Prenatal diagnosis
JF - Prenatal diagnosis
IS - 9
ER -