Francesca Romana Lepri

1 Case Presentation A 37-year-old primigravida, pregnant after in vitro fertilization due to idiopathic infertility, was referred for a genetic consultation because of severe fetal hydrops at the second-trimester ultrasound (US) examination. Preimplantation genetic testing (PGT) was not performed. The pregnancy began as a dichorionic twin gestation, with early intrauterine demise of one fetus.

Abstract : Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA, which are inconclusive in approximately 3–5% of cases. Genomic DNA approaches may overlook splicing-affecting intronic variants and structural rearrangements, especially in regions enriched in repetitive sequences.

Publication HistoryPublished online: September 05, 2018Accepted: June 14, 2018; Received in revised form: May 26, 2018; Received: December 19, 2017;