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Year : 2022  |  Volume : 30  |  Issue : 4  |  Page : 257-260

Prenatal diagnosis of euploid increased nuchal translucency on fetal ultrasound (I): Noonan syndrome: Prenatal diagnosis and genetic testing

Department of Obstetrics and Gynecology; Department of Medical Research, MacKay Memorial Hospital, Taipei; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung; Institute of Clinical and Community Health Nursing; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan

Correspondence Address:
Prof. Chih-Ping Chen
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, No. 92, Section 2, Chung-Shan North Road, Taipei 10449
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmu.jmu_78_22

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Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome (NS). Therefore, chromosomal microarray analysis, whole-exome sequencing, RD testing, and protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene testing may be necessary under such a circumstance. In this report, a comprehensive review of NS with its prenatal diagnosis and genetic testing is presented.

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