Prenatal diagnosis of ß-thalassemia: nuchal translucency in affected fetuses.
Minerva Ginecol
; 63(6): 491-4, 2011 Dec.
Article
in En
| MEDLINE
| ID: mdl-22036753
ABSTRACT
AIM:
Thalassemia syndromes are a group of blood disorders inherited in autosomal recessive manner. Prenatal diagnosis of disease is based on invasive procedures. Fetuses affected by homozygous thalassemia are not reported to be anemic. We studied their nuchal translucency (NT) measurements to identify as an ultrasonographic marker of disease and highlight any correlations.METHODS:
Between April 2006 and July 2010 NT test was offered to women referred to our center for prenatal diagnosis of thalassemia. All the NT tests were performed in the time of chorionic villus sampling (CVS), according to the standards of the Fetal Medicine Foundation. Measurements of fetuses affected by homozygous thalassemia were compared with normal fetuses.RESULTS:
A total of 55 fetuses were recruited. Of these, 15 were confirmed to be affected by homozygous thalassemia and 40 resulted to be carriers of thalassemia trait. Neither abnormal karyotype or structural abnormalities were detected and all the NT measurement were normal. NT was not different between the affected and normal fetuses.CONCLUSION:
NT is not a marker of homozygous thalassemia in fetuses at risk. Invasive procedures remain the only available methods for diagnosis.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta-Thalassemia
/
Nuchal Translucency Measurement
/
Fetal Diseases
Type of study:
Diagnostic_studies
/
Guideline
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Minerva Ginecol
Year:
2011
Document type:
Article
Affiliation country:
Italia