Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites

• Published in: Prenatal diagnosis 2005-07, Vol.25 (7), p.574-576
• Main Authors: Schlüter, Gregor, Steckel, Maren, Schiffmann, Holger, Harms, Karsten, Viereck, Volker, Emons, Günter, Burfeind, Peter, Pauer, Hans-Ulrich
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - embryology; Adult; ascites; Ascites - diagnostic imaging; Ascites - embryology; Biological and medical sciences; Birth control; chylothorax; Diagnosis, Differential; Diseases of the osteoarticular system; Fatal Outcome; Female; Gynecology. Andrology. Obstetrics; Hormonal contraception; Humans; Infant, Newborn; Intracellular Signaling Peptides and Proteins - genetics; Karyotyping; Lymphangioma, Cystic - diagnostic imaging; Lymphangioma, Cystic - embryology; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mutation; Noonan syndrome; Noonan Syndrome - diagnosis; Noonan Syndrome - diagnostic imaging; Noonan Syndrome - embryology; Noonan Syndrome - pathology; Pleural Effusion - diagnostic imaging; Pleural Effusion - embryology; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein Tyrosine Phosphatases - genetics; PTPN11; Ultrasonography
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.1189

Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated. Copyright © 2005 John Wiley & Sons, Ltd.