Document Detail

Fetal nuchal translucency and prenatal diagnosis of beta-thalassaemia.
MedLine Citation:
PMID:  10451523     Owner:  NLM     Status:  MEDLINE    
In Sardinia, fetal karyotyping for couples at risk for beta-thalassaemia is offered only to women >/=35 years and for specific risk of chromosomopathies. This policy is not easily accepted by the couples who incessantly request additional karyotyping. In order to select those at highest risk of chromosomal abnormalities among young women, fetal nuchal translucency (NT) thickness measurement was performed in 510 fetuses to assess the chromosomal risk before chorionic villus sampling. A risk >/=1/100 was judged positive and worthy of additional karyotyping. 126 cases interrupted the pregnancy after a result of homozygous beta-thalassaemia, hence 384 pregnancies were included in the study. 22 (5.7 per cent) fetuses were found NT positive. A total of three chromosomal abnormalities were detected. The NT test was positive in all three cases of chromosomopathies detected (100 per cent) and in 19 of 381 (4.98 per cent) normal karyotype fetuses. No features of major chromosomal abnormalities were reported among the newborns whose NT had resulted normal. These preliminary results have confirmed the efficacy of NT testing to assess the risk of trisomy 21 and other chromosomopathies and enhanced its utility in pregnancies already suited to sampling in the first-trimester for Mendelian disorders.
G Monni; R M Ibba; M A Zoppi; M Putzolu; M Floris; A Cao
Related Documents :
1586333 - Prognosis in fetal cystic hygroma.
2149943 - Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks.
23181343 - Incidence of uterine tachysystole in women induced with oxytocin.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  19     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1999 Aug 
Date Detail:
Created Date:  1999-11-09     Completed Date:  1999-11-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  758-60     Citation Subset:  IM    
Copyright Information:
Copyright 1999 John Wiley & Sons, Ltd.
Department of Obstetrics and Gynaecology, Prenatal and Preimplantation Genetic Diagnosis, Ospedale Regionale per le Microcitemie, Cagliari, Sardinia, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Aberrations / embryology,  ultrasonography
Chromosome Disorders
Fetal Diseases / embryology,  ultrasonography*
Predictive Value of Tests
Pregnancy Trimester, First
Ultrasonography, Prenatal*
beta-Thalassemia / embryology,  ultrasonography*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP ...
Next Document:  Amniotic fluid alpha-fetoprotein testing in native Japanese women.