| Congenital myotonic dystrophy. | |
| | |
MedLine Citation:
|
PMID: 16260886 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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:
|
K Upadhyay; A Thomson; M J M Luckas |
Related Documents
:
|
9193936 - Morphological and molecular characteristics of living human fetuses between carnegie st... 22469506 - The genetics of gestational trophoblastic disease: a rare complication of pregnancy. 7945626 - Diagnostic ultrasound in pregnancy and low birthweight. 19360606 - Use of positive reinforcement conditioning to monitor pregnancy in an unanesthetized sn... 7845886 - Umbilical artery velocity waveforms before and after chorionic villus sampling. 8935436 - The role of the placenta in fetal nutrition and growth. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Fetal diagnosis and therapy Volume: 20 ISSN: 1015-3837 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2005 Nov-Dec |
Date Detail:
|
Created Date: 2005-11-01 Completed Date: 2006-01-19 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 512-4 Citation Subset: IM |
Copyright Information:
|
Copyright (c) 2005 S. Karger AG, Basel. |
Affiliation:
|
Department of Obstetrics and Gynaecology, Leighton Hospital, Mid Cheshire NHS Trust, Crewe, UK. upadhyayok@yahoo.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Fatal Outcome Female Genetic Predisposition to Disease Humans Infant, Newborn Male Myotonic Dystrophy / diagnosis, genetics, ultrasonography* Pregnancy Pregnancy Complications / diagnosis, genetics, ultrasonography* Treatment Refusal Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Endothelial nitric oxide synthase polymorphism is not associated with placental abruption in Finnish...
Next Document: Periconceptional clinics: a medical health care infrastructure of new genetics.