Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13

• Published in: International journal of gynecology and obstetrics Vol. 125; no. 1; pp. 18 - 21
• Main Authors: Chang, Chia-Wei, Hsu, Hui-Kuo, Kao, Chiu-Ching, Huang, Jyun-Yuan, Kuo, Pao-Lin
• Format: Journal Article
• Language: English
• Published: United States Elsevier Ireland Ltd 01.04.2014
• Subjects: Adult; Angelman syndrome; Angelman Syndrome - diagnosis; Angelman Syndrome - genetics; Chromosomes, Human, Pair 15 - genetics; Female; Humans; In Situ Hybridization, Fluorescence; Nucleic Acid Amplification Techniques - methods; Obstetrics and Gynecology; Polymerase Chain Reaction; Prader-Willi Syndrome - diagnosis; Prader-Willi Syndrome - genetics; Prader–Willi syndrome; Pregnancy; Prenatal diagnosis; Prenatal Diagnosis - methods; Retrospective Studies; Sequence Deletion; Taiwan; Taiwan; Angelman syndrome; Prenatal diagnosis; Prader–Willi syndrome
• DOI: 10.1016/j.ijgo.2013.09.028
• ISSN: 0020-7292; 1879-3479

Abstract Objective To identify Prader–Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13. Methods In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA). Results During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n = 1) or AS (n = 2). Conclusion A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS.