Abstract：
OBJECTIVE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020.
METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes.
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively.
CONCLUSIONS: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.
METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes.
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively.
CONCLUSIONS: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.
摘要：
目的：报告2002年至2020年间单中心产前疑似多系统纤毛病变的诊断。
方法：回顾性观察单中心研究，包括具有多系统纤毛病变产前超声特征的妊娠，例如高回声肾脏以及多指和/或其他骨骼和骨骼外发现。根据产前发现和结果比较病例。
结果：36例多系统纤毛病变。Meckel-Gruber综合征(MKS)是最常见的纤毛病(n=19/36,52.8%),其次是属于短肋骨胸部发育不良组的疾病(SRTD，n=10/36，27.8%)麦库西克-考夫曼综合征(MKKS，n=4/36，11.1%)，Bardet-Biedl综合征（BBS，n=2/36，5.5％）和Joubert综合征（n=1/36，2.8％）。所有病例都显示肾脏异常，最常见的是高回声实质（n=26/36，72.2％），囊性发育不良（n=24/36，66.7%），和/或双侧肾脏肿大（n=22/36，61.1％）。羊水过少主要存在于患有MKS的胎儿中。多指（n=18/36），中枢神经系统异常（n=25/36），和心脏缺陷（n=10/36）相关的50%，69.4%,27.8%,分别。
结论：产前检测到与骨骼或脑部异常相关的肾脏异常应引起多系统纤毛病变的怀疑。产前超声可以帮助区分不同的疾病，并为随后的靶向基因检测铺平道路。
方法：回顾性观察单中心研究，包括具有多系统纤毛病变产前超声特征的妊娠，例如高回声肾脏以及多指和/或其他骨骼和骨骼外发现。根据产前发现和结果比较病例。
结果：36例多系统纤毛病变。Meckel-Gruber综合征(MKS)是最常见的纤毛病(n=19/36,52.8%),其次是属于短肋骨胸部发育不良组的疾病(SRTD，n=10/36，27.8%)麦库西克-考夫曼综合征(MKKS，n=4/36，11.1%)，Bardet-Biedl综合征（BBS，n=2/36，5.5％）和Joubert综合征（n=1/36，2.8％）。所有病例都显示肾脏异常，最常见的是高回声实质（n=26/36，72.2％），囊性发育不良（n=24/36，66.7%），和/或双侧肾脏肿大（n=22/36，61.1％）。羊水过少主要存在于患有MKS的胎儿中。多指（n=18/36），中枢神经系统异常（n=25/36），和心脏缺陷（n=10/36）相关的50%，69.4%,27.8%,分别。
结论：产前检测到与骨骼或脑部异常相关的肾脏异常应引起多系统纤毛病变的怀疑。产前超声可以帮助区分不同的疾病，并为随后的靶向基因检测铺平道路。
