Bruwer Zandrè, Al Riyami Nihal, Al Dughaishi Tamima, Al Murshedi Fathiya, Al Sayegh Abeer, Al Kindy Adila, Meftah Douja, Al Kharusi Khalsa, Al Foori Amel, Al Yarubi Naeema, Scott Patrick, Al-Thihli Khalid
Department of Genetics, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate ofOman.
Department of Obstetrics and Gynaecology, Sultan Qaboos University Hospital, Muscat, Sultanate ofOman.
J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124.
The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH.
All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis. Clinical characteristics and results of the diagnostic work-up were retrospectively reviewed.
A total of 3234 pregnancies were referred for prenatal care at SQUH during the study period, and 12 pregnancies were affected by NIHF. An underlying diagnosis was established in nine cases, and the majority of cases (7/9) were caused by inborn errors of metabolism (IEM). These included a novel homozygous variant in the AARS2 gene (5/7) and two cases of galactosialidosis (2/7).
IEM was a major cause of NIHF in this cohort. The AARS2 variant accounts for a significant number of cases with NIHF in this cohort of Omani patients.
本研究旨在确定研究期间在苏丹卡布斯大学医院（SQUH）接受产前检查的所有孕妇中非免疫性胎儿水肿（NIHF）的发生率，并评估NIH的潜在病因。
确定了2014年2月至2015年12月期间转诊至SQUH的所有孕妇，所有符合NIHF诊断的孕妇均纳入本研究。在此期间转诊至我们中心的所有NIHF病例均接受了标准的系统诊断检查，除了胎儿水肿的标准检查外，还包括生化和分子研究。对诊断检查的临床特征和结果进行了回顾性分析。
研究期间共有3234例孕妇转诊至SQUH接受产前检查，其中12例孕妇患有NIHF。9例病例确定了潜在诊断，大多数病例（7/9）由先天性代谢缺陷（IEM）引起。这些包括AARS2基因中的一种新型纯合变异（5/7）和两例半乳糖唾液酸贮积症（2/7）。
IEM是该队列中NIHF的主要原因。在这组阿曼患者中，AARS2变异占NIHF病例的很大一部分。
