Abstract：
To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS).
This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.
All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.
Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.
This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes.
All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term.
Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.
摘要：
目的：介绍胎儿Bardet-Biedl综合征（BBS）妊娠的产前超声特征和基因组谱。
方法：回顾性研究11例经产前超声诊断并经基因检测证实的BBS。收集并审查了这些病例的临床和实验室数据，包括产妇人口统计，产前超声检查结果，分子检测测序结果,和妊娠结局。
结果：所有病例均进行了妊娠早期超声扫描，未报告肢体畸形。所有患者均有中期异常的超声检查：9例（9/11）是轴后多指，7例（7/11）肾脏异常，羊水量减少两个（2/11），两个中枢神经系统异常（2/11），和腹水三（3/11）。十个胎儿至少有两系异常，和一个（病例11）仅呈现后轴多指。在五个基因中检测到变异，包括BBS2、ARL6/BBS3、BBS7、CEP290/BBS14和IFT74/BBS22。妊娠中期终止了十次怀孕，而一个人继续任期。
结论：增大的高回声肾和后轴多指是胎儿BBS的两个最常见的超声特征。BBS的产前诊断可以通过超声和基因检测进行，尽管诊断可能在孕中期进行。
方法：回顾性研究11例经产前超声诊断并经基因检测证实的BBS。收集并审查了这些病例的临床和实验室数据，包括产妇人口统计，产前超声检查结果，分子检测测序结果,和妊娠结局。
结果：所有病例均进行了妊娠早期超声扫描，未报告肢体畸形。所有患者均有中期异常的超声检查：9例（9/11）是轴后多指，7例（7/11）肾脏异常，羊水量减少两个（2/11），两个中枢神经系统异常（2/11），和腹水三（3/11）。十个胎儿至少有两系异常，和一个（病例11）仅呈现后轴多指。在五个基因中检测到变异，包括BBS2、ARL6/BBS3、BBS7、CEP290/BBS14和IFT74/BBS22。妊娠中期终止了十次怀孕，而一个人继续任期。
结论：增大的高回声肾和后轴多指是胎儿BBS的两个最常见的超声特征。BBS的产前诊断可以通过超声和基因检测进行，尽管诊断可能在孕中期进行。
