Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review
Issued Date
2024-10-01
Resource Type
eISSN
20770383
Scopus ID
2-s2.0-85206572346
Journal Title
Journal of Clinical Medicine
Volume
13
Issue
19
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Clinical Medicine Vol.13 No.19 (2024)
Suggested Citation
Tangshewinsirikul C., Wattanasirichaigoon D., Tim-Aroon T., Promsonthi P., Katanyuwong P., Diawtipsukon S., Chansriniyom N., Tongsong T. Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review. Journal of Clinical Medicine Vol.13 No.19 (2024). doi:10.3390/jcm13195735 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/101733
Title
Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review
Corresponding Author(s)
Other Contributor(s)
Abstract
Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus.