title: Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing.
abstract: Mutations in PIK3CA are associated with overgrowth spectrum disorders including excessive growth in some areas of the body and the central nervous system. Alterations in PIK3CA occur as somatic, postzygotic events and confer a mosaic genotype with variability in phenotypic expression being commonly observed. We describe the second reported prenatal diagnosis of a PIK3CA-related overgrowth spectrum disorder. The prenatal ultrasound features in this case enabled the presumptive, prospective diagnosis to be made which was then confirmed by genetic testing. Subsequent parental testing for mutations in PIK3CA demonstrated normal genotypes. Identification of this mutation prenatally enabled prospective information to be provided to the family and facilitated multidisciplinary perinatal management.
authors.affiliation: 1 Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Quinlan-Jones
authors.affiliation: 2 Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: Denise
authors.initials: D
authors.lastname: Williams
authors.affiliation: 1 Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Bell
authors.affiliation: 3 Department of Radiology, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Miller
authors.affiliation: 4 Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK.
authors.forename: Carolyn
authors.initials: C
authors.lastname: Gokhale
authors.affiliation: 1 Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.|5 Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.|6 Centre for Women's and Newborn Health, University of Birmingham, Birmingham, UK.
authors.forename: Mark D
authors.initials: MD
authors.lastname: Kilby
mesh_terms: D000650:Amnion / Q000166:cytology; D002478:Cells, Cultured; D058534:Class I Phosphatidylinositol 3-Kinases / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods*; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: PIK3CA mutation; fetal; overgrowth