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Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review
- Source :
- Taiwanese Journal of Obstetrics & Gynecology, Vol 52, Iss 4, Pp 580-585 (2013)
- Publication Year :
- 2013
- Publisher :
- Elsevier, 2013.
-
Abstract
- ObjectiveWe describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH.Case reportA 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II ultrasound showed a normal amount of amniotic fluid and a singleton fetus with fetal biometry equivalent to 30 weeks except for short limbs. Fetal biometry measurements were as follows: biparietal diameter = 7.38 cm (30 weeks); head circumference = 28.14 cm (30 weeks); abdominal circumference (AC) = 24.64 cm (30 weeks); femur length (FL) = 3.97 cm ( 0.18); humerus = 3.64 cm ( G, TAC > TGC transversion in exon 7 leading to a p.Tyr278Cys (Y278C) mutation in the FGFR3 protein. aCGH analysis revealed no genomic imbalance in cord blood. After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. Cytogenetic analysis of cultured placental cells revealed a karyotype of 46,XX.ConclusionPrenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3.
- Subjects :
- Adult
medicine.medical_specialty
Amniotic fluid
hypochondroplasia
DNA Mutational Analysis
Limb Deformities, Congenital
Dwarfism
Prenatal diagnosis
Hypochondroplasia
lcsh:Gynecology and obstetrics
Bone and Bones
Ultrasonography, Prenatal
Achondroplasia
Diagnosis, Differential
Pregnancy
Obstetrics and Gynaecology
Humans
Receptor, Fibroblast Growth Factor, Type 3
Medicine
Genetic Testing
lcsh:RG1-991
Fetus
prenatal diagnosis
business.industry
Obstetrics
Brachydactyly
Obstetrics and Gynecology
medicine.disease
Fetal Diseases
FGFR3
Cord blood
Mutation
Lordosis
Gestation
Female
business
Subjects
Details
- Language :
- English
- ISSN :
- 10284559
- Volume :
- 52
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Taiwanese Journal of Obstetrics & Gynecology
- Accession number :
- edsair.doi.dedup.....7d543ee6c31157cdab36c13d3acbee6b