title: Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome.
abstract: OBJECTIVE
  The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1).
  
  
  METHODS
  A retrospective chart review of all patients with a diagnosis of DM1 and pregnancy presenting to the Oxford Radcliffe Hospital between 1990 and 2004 was undertaken. Obstetric case notes were reviewed and details of all pregnancies obtained. This included data on prenatal diagnostic tests and obstetric ultrasound scans performed as well as pregnancy complications and pregnancy outcome. Maternal and fetal CTG expansion size was also recorded where available. Maternal genetic case notes were reviewed for details of maternal grip myotonia.
  
  
  RESULTS
  Sixty pregnancies among 26 couples in which one of the parents was a carrier of DM1 were identified during the study period. These resulted in 36 (60%) pregnancies affected by congenital DM1 and 19 (31.7%) unaffected pregnancies. There were four miscarriages and one termination of pregnancy for non-medical reasons. Nineteen of the 36 affected pregnancies ended in termination following the antenatal diagnosis of congenital DM1 by either chorionic villus sampling (CVS) or amniocentesis. In the remaining 17 affected pregnancies (16 singleton and one twin) there was one miscarriage of an affected fetus with co-existing Down syndrome and eight perinatal deaths. The principal cause of perinatal death was respiratory failure in the early neonatal period. Antenatally noted clinical/sonographic abnormalities in these pregnancies included polyhydramnios (100%), talipes (26.6%) and borderline ventriculomegaly (13.3%). Uni- or bilateral talipes was noted at delivery in 10 of 16 (62.5%) neonates. Maternal grip myotonia was present in all but one of these cases.
  
  
  CONCLUSIONS
  The antenatal findings of polyhydramnios and talipes should prompt a search for maternal grip myotonia. If present, definitive testing for congenital DM1 should be considered.
authors.affiliation: Prenatal Diagnosis Unit, Women's Centre, Oxford Radcliffe Hospital, Headington, Oxford, UK.
authors.forename: M
authors.initials: M
authors.lastname: Zaki
authors.forename: P A
authors.initials: PA
authors.lastname: Boyd
authors.forename: L
authors.initials: L
authors.lastname: Impey
authors.forename: A
authors.initials: A
authors.lastname: Roberts
authors.forename: P
authors.initials: P
authors.lastname: Chamberlain
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000453:epidemiology; D005865:Gestational Age; D018737:Hand Strength / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009222:Myotonia / Q000175:diagnosis; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000000981:diagnostic imaging*; D006831:Polyhydramnios / Q000453:epidemiology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging*; D011256:Pregnancy Outcome; D012127:Respiratory Distress Syndrome, Newborn / Q000401:mortality*; D012189:Retrospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D016216:Ultrasonography, Prenatal