O'Mahony Edward F, Hutchinson Darren P, McGillivray George, Nisbet Debbie L, Palma-Dias Ricardo
Royal Women's Hospital, Parkville, Victoria, Australia.
University of Melbourne, Department of Obstetrics & Gynaecology, Royal Womens Hospital, Parkville, VIC, 3052, Australia.
Prenat Diagn. 2017 May;37(5):440-445. doi: 10.1002/pd.5029. Epub 2017 Mar 12.
For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy, we aimed to establish the frequency of chromosomal anomaly diagnosed with single nucleotide polymorphism microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and six-probe fish (13,18,21, X,Y, TUPLE).
Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring.
Thirty patients were identified; 24 were apparently isolated. Chromosomal anomalies were identified in eight fetuses (32%) of 25 who had chromosomal testing. The rate in isolated cases was 11% and 56% in non-isolated cases. The 22q11.2 deletion was identified in three fetuses (12%). Microarray identified copy number variants of potential clinical significance in four additional fetuses (16%). Long continuous stretches of homozygosity were identified in one fetus with cerebellar hypoplasia potentially identifying the loci for recessive mutations. Surgery for vascular ring was performed on seven infants (25%) CONCLUSION: Microarray detected clinically significant chromosomal anomalies in fetuses with right aortic arch that would not be detected with conventional karyotyping. Prenatal counselling should include the chance of postnatal surgery and the importance of long-term follow-up. © 2017 John Wiley & Sons, Ltd.
对于诊断为右位主动脉弓且心脏解剖结构正常的胎儿，我们旨在确定通过单核苷酸多态性微阵列分析诊断出的染色体异常的频率，尤其关注传统核型分析和六探针荧光原位杂交技术（检测13、18、21、X、Y、TUPLE染色体）无法检测到的微重复或微缺失。
对澳大利亚一家三级转诊中心2011年至2016年期间的胎儿超声检查进行回顾性研究。关注的结果是存活情况及出生后血管环手术情况。
共确定30例患者；其中24例明显为孤立性病例。在进行染色体检测的25例胎儿中，8例（32%）发现染色体异常。孤立性病例的发生率为11%，非孤立性病例为56%。3例胎儿（12%）检测到22q11.2缺失。微阵列分析在另外4例胎儿（16%）中发现了具有潜在临床意义的拷贝数变异。在1例小脑发育不全的胎儿中发现了长段纯合性区域，可能确定了隐性突变的位点。7例婴儿（25%）接受了血管环手术。结论：微阵列分析可检测出右位主动脉弓胎儿中传统核型分析无法检测到的具有临床意义的染色体异常。产前咨询应包括出生后手术的可能性以及长期随访的重要性。© 2017约翰·威利父子有限公司
