PDF(Pubmed)
Abstract：
The 22q11.2 deletion syndrome (22q11.2 DS) is known as the most common microdeletion syndrome. Due to its variable clinical phenotype, prenatal diagnosis can be challenging. The aim of this retrospective study was to evaluate the clinical course and pregnancy outcome of cases with prenatally diagnosed 22q11.2 deletion syndrome (DS) as well as to evaluate the role of prenatal magnetic resonance imaging (MRI) and postmortem examination. In total, 21 cases who underwent prenatal ultrasound examination and pregnancy care at the Department of Obstetrics and Gynecology at the Medical University of Vienna between 2012 and 2022 were included. The majority of the cases were genetically diagnosed using fluorescent in situ hybridization (FISH). The median gestational age (GA) at genetic diagnosis was 23.0 weeks (IQR 21.4-24.8 weeks). CHDs were detected in all fetuses and the most common extracardiac manifestation was thymus hypo/aplasia followed by genitourinary anomalies. Prenatal magnetic resonance imaging (MRI) revealed additional diagnostic information in three of ten cases. Overall, 14 patients opted for drug-induced TOP, of which 9 cases had a feticide prior to the induction of labor. The majority of craniofacial malformations were only detected by autopsy. In conclusion, the majority of cases prenatally diagnosed with 22q11.2 DS had an absent or hypoplastic thymus noted antenatally in addition to the detected CHD, and almost half of the cases had another extracardiac malformation of predominantly genitourinary origin. Furthermore, prenatal MRIs confirmed previously detected malformations, but only provided additional diagnostic information in three out of ten cases, whereas postmortem examination diagnosed most of the craniofacial anomalies and should always be conducted, serving as an important quality indicator for prenatal imaging.
摘要：
22q11.2缺失综合征（22q11.2DS）是最常见的微缺失综合征。由于其可变的临床表型，产前诊断可能具有挑战性。这项回顾性研究的目的是评估产前诊断为22q11.2缺失综合征（DS）的病例的临床过程和妊娠结局，以及评估产前磁共振成像（MRI）和尸检的作用。总的来说,包括2012年至2022年在维也纳医科大学妇产科接受产前超声检查和妊娠护理的21例患者。大多数病例是使用荧光原位杂交（FISH）进行遗传诊断的。遗传诊断时的中位胎龄（GA）为23.0周（IQR21.4-24.8周）。在所有胎儿中均检测到CHD，最常见的心外表现是胸腺发育不全/发育不全，其次是泌尿生殖系统异常。产前磁共振成像（MRI）在十例病例中有三例显示了其他诊断信息。总的来说,14名患者选择了药物诱导的TOP，其中9例在引产前进行了致产剂。大多数颅面畸形仅通过尸检发现。总之,产前诊断为22q11.2DS的大多数病例除了检测到CHD外，在产前还注意到胸腺缺失或发育不全，几乎一半的病例有另一个主要来自泌尿生殖系统的心外畸形。此外，产前MRI证实了先前发现的畸形，但只在十分之三的病例中提供了额外的诊断信息，而尸检诊断出大部分颅面异常，应始终进行，作为产前成像的重要质量指标。
