title: Congenital myotonic dystrophy.
abstract: We describe a case of severe congenital myotonic dystrophy (CDM). A 38-year-old primigravida, who was known to suffer from mild myotonic dystrophy (DM), conceived spontaneously and booked for confinement at 11 weeks in our unit. The couple had been fully counseled about the risks of transmission of this condition to their offspring before embarking on this pregnancy. Despite being fully aware of the risks, they declined prenatal diagnosis. The pregnancy was monitored by serial ultrasound scans. The diagnosis of CDM was suspected by ultrasound markers of borderline ventriculomegaly, polyhydramnios, and reduced fetal movements. The pregnancy ended prematurely at 33 weeks in an emergency caesarean section because of severe fetal compromise. The neonate died almost immediately after birth. The genetic analysis of cord blood confirmed severe DM. This case highlights the importance of ultrasound markers for the diagnosis of CDM in the absence of definitive prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynaecology, Leighton Hospital, Mid Cheshire NHS Trust, Crewe, UK. upadhyayok@yahoo.com
authors.forename: K
authors.initials: K
authors.lastname: Upadhyay
authors.forename: A
authors.initials: A
authors.lastname: Thomson
authors.forename: M J M
authors.initials: MJ
authors.lastname: Luckas
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D016312:Treatment Refusal; D016216:Ultrasonography, Prenatal