Document Detail


Relation between increased fetal nuchal translucency thickness and chromosomal defects.
MedLine Citation:
PMID:  16394033     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness. METHODS: Assessment of risk for trisomy 21 was carried out by a combination of maternal age and fetal nuchal translucency thickness at 11-13 + 6 weeks. A search of the database was made to identify, first, all singleton pregnancies in which fetal karyotyping was carried out and, second, the cases where the fetal nuchal translucency was equal to or above the 95th centile for fetal crown-rump length. The prevalence and distribution of chromosomal defects were determined for each nuchal translucency category: between the 95th centile for crown-rump length and 3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, 6.5-7.4 mm, 7.5-8.4 mm, 8.5-9.4 mm, 9.5-10.4 mm, 10.5-11.4 mm, and 11.5 mm or more. RESULTS: The search identified 11,315 pregnancies. The median maternal age was 34.5 (range 15-50) years, and the median fetal crown-rump length was 64 (range 45-84) mm. The fetal karyotype was abnormal in 2,168 (19.2%) pregnancies, and the incidence of chromosomal defects increased with nuchal translucency thickness from approximately 7% for those with nuchal translucency between the 95th centile for crown-rump length and 3.4 mm to 75% for nuchal translucency of 8.5 mm or more. In the majority of fetuses with trisomy 21, the nuchal translucency thickness was less then 4.5 mm, whereas in the majority of fetuses with trisomies 13 or 18 it was 4.5-8.4 mm, and in those with Turner syndrome it was 8.5 mm or more. CONCLUSION: In fetuses with increased nuchal translucency, approximately one half of the chromosomally abnormal group is affected by defects other than trisomy 21. The distribution of nuchal translucency is different for each type of chromosomal defect. LEVEL OF EVIDENCE: II-3.
Authors:
Karl Oliver Kagan; Kyriaki Avgidou; Francisca S Molina; Katarzyna Gajewska; Kypros H Nicolaides
Related Documents :
18989383 - Anterior segment mesenchymal dysgenesis in a large australian family is associated with...
17605153 - Prenatal diagnosis of a fetus with androgen insensitivity syndrome (ais).
21678383 - Nutritional advice for improving outcomes in multiple pregnancies.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  107     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-01-05     Completed Date:  2006-03-02     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  6-10     Citation Subset:  AIM; IM    
Affiliation:
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, United Kingdom.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Chromosome Aberrations*
Down Syndrome / epidemiology,  genetics,  ultrasonography
Female
Genetic Counseling*
Genetic Predisposition to Disease*
Humans
Karyotyping
Maternal Age
Middle Aged
Nuchal Translucency Measurement / methods*
Pedigree
Pregnancy
Pregnancy Trimester, First
Prevalence
Probability
Retrospective Studies
Risk Assessment
Trisomy
Ultrasonography, Prenatal / methods
Comments/Corrections
Comment In:
Obstet Gynecol. 2006 Jan;107(1):2-3   [PMID:  16394031 ]

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


Previous Document:  Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inve...
Next Document:  Screening for Down syndrome: practice patterns and knowledge of obstetricians and gynecologists.