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Related Experiment Videos

Congenital myotonic dystrophy.

K Upadhyay1, A Thomson, M J M Luckas

  • 1Department of Obstetrics and Gynaecology, Leighton Hospital, Mid Cheshire NHS Trust, Crewe, UK. upadhyayok@yahoo.com

Fetal Diagnosis and Therapy
|November 2, 2005
PubMed
Summary
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Severe congenital myotonic dystrophy (CDM) was diagnosed in a neonate whose mother had mild myotonic dystrophy (DM). Ultrasound markers suggested CDM, but prenatal diagnosis was declined, leading to a premature birth and neonatal death.

Area of Science:

  • Medical Genetics
  • Maternal-Fetal Medicine
  • Neonatology

Background:

  • Myotonic dystrophy (DM) is an autosomal dominant genetic disorder.
  • Congenital myotonic dystrophy (CDM) is a severe form with significant perinatal risks.
  • Genetic counseling is crucial for affected individuals planning pregnancy.

Observation:

  • A primigravida with mild DM conceived spontaneously.
  • The couple declined prenatal diagnosis despite counseling on transmission risks.
  • Pregnancy was monitored via serial ultrasound scans.

Findings:

  • Ultrasound revealed borderline ventriculomegaly, polyhydramnios, and reduced fetal movements, suggesting CDM.
  • The pregnancy concluded prematurely at 33 weeks via emergency cesarean section due to fetal compromise.

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  • The neonate died shortly after birth; cord blood analysis confirmed severe DM.

    • Implications:

    • This case underscores the diagnostic utility of specific ultrasound markers for suspected CDM.
    • It highlights the challenges in managing pregnancies where prenatal diagnosis is refused.
    • Emphasizes the importance of informed decision-making regarding prenatal testing for genetic conditions.