ArticleWorld journal of clinical cases2021
Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report.
Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation.AME case reports · 2026Article
- Contemporary Management of the Upper Limb in Apert Syndrome: A Review.Plastic and reconstructive surgery. Global open · 2024Article
- Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report.World journal of clinical cases · 2021Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMost 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
conclusionThis 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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