Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith–Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

摘要: Abstract Objective We report prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith–Wiedemann syndrome (BWS) in a pregnancy conceived by intracytoplasmic sperm injection in vitro fertilization embryo transfer. Case A 34-year-old, primigravid woman was referred to the hospital 21 weeks' gestation because advanced maternal age an isolated omphalocele fetus. Her husband had fertility problem oligospermia. This achieved Prenatal ultrasound revealed 2.1 cm × 1.6 cm omphalocele. The underwent amniocentesis. Array comparative genomic hybridization methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were applied DNA extracted from uncultured amniocytes. Conventional cytogenetic analysis high-resolution melting performed on cultured no imbalance. MS-MLPA H19 DMR(IC1) normal methylation KvDMR1(IC2) hypomethylation. karyotype 46,XX. High-resolution using polymerase chain reaction assay confirmed KvDMR1(IC2). altered status 11p15.5 phenotype consistent with BWS. Conclusion In case prenatally detected associated obstetric history assisted reproductive technology, differential BWS should be considered. Methylation assays such as amniocytes are useful for rapid under circumstances.