Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing:A case report

Lei Chen; Fei-Xiang Huang

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Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing:A case report

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BACKGROUND Most cases of Apert syndrome(AS)are found after birth.Cases of AS diagnosed by ultrasound combined with magnetic resonance imaging(MRI)and whole exome sequencing(WES)during pregnancy are rare.CASE SUMMARY We present the case of a 34-year old female patient(gravida 2,para 1)whose fetus was diagnosed with AS during pregnancy.Fetal ultrasound performed at 30,2/7 wk of pregnancy showed abnormalities.MRI and three-dimensional ultrasound performed at 31,1/7 wk of pregnancy showed the possibility of AS.Chromosome examination and core family WES were conducted at 31,5/7 wk of pregnancy.The results showed that FGFR2 in the fetus had a c.755C>G missense mutation in its nucleotide,and AS was confirmed.CONCLUSION This case highlights the importance of imaging examinations.Prenatal ultrasound combined with MRI can identify fetal morphological abnormalities accurately,which can be confirmed by WES.

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《世界临床病例杂志》 |2021年第4期|P.912-918|共7页
作者
Lei Chen; Fei-Xiang Huang;
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作者单位

Ultrasonography Department Hangzhou Women’s Hospital Hangzhou 310008 Zhejiang Province China;

Department of Traditional Chinese Medicine Hangzhou Women’s Hospital Hangzhou 310008 Zhejiang Province China;

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原文格式 PDF
正文语种 chi
中图分类妇产科学;
关键词
Apert syndrome; Prenatal ultrasound; Magnetic resonance imaging; Whole exome sequencing; FGFR2; Case report;

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Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing:A case report

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