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Related Experiment Videos

Increased nuchal translucency and CATCH 22

M S Lazanakis1, K Rodgers, D L Economides

  • 1University Department of Obstetrics and Gynaecology, Royal Free Hospital, London, U.K.

Prenatal Diagnosis
|June 11, 1998
PubMed
Summary
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Increased nuchal translucency in fetuses may indicate 22q11 microdeletion, a genetic condition causing various malformations. Early karyotype analysis is crucial for diagnosing this deletion and associated conditions like DiGeorge syndrome.

Area of Science:

  • Cytogenetics
  • Medical Genetics
  • Fetal Medicine

Background:

  • 22q11 microdeletion is associated with a spectrum of congenital anomalies, known as CATCH 22.
  • CATCH 22 encompasses Cardiac defects, Abnormal faces, Thymic hypoplasia, Cleft palate, Hypocalcaemia, and 22 chromosome deletion.

Observation:

  • A fetus presented with increased nuchal translucency at 12 weeks' gestation.
  • The neonate exhibited congenital cardiac defects characteristic of DiGeorge syndrome and hypocalcaemia at birth.

Findings:

  • The neonate was diagnosed with the 22q11 microdeletion.
  • Increased nuchal translucency is a potential indicator for the CATCH 22 spectrum of malformations.

Implications:

  • Consider the CATCH 22 spectrum of malformations in fetuses with increased nuchal translucency.

Related Experiment Videos

  • Thorough karyotype analysis is recommended to detect 22q11 microdeletion in such cases.