Document Detail

Prenatal sonographic markers of trisomy 21.
MedLine Citation:
PMID:  11336089     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe the sonographic characteristics of fetuses with trisomy 21. DESIGN: A prospective descriptive analysis. SETTING: Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS: Pregnancies at risk of trisomy 21 between 14-27 weeks' gestation. RESULTS: Thirty-six fetuses with subsequently proven trisomy 21 were prenatally evaluated by ultrasound in the second trimester. The main indications for detailed ultrasound examinations were advanced maternal age and abnormal findings on routine ultrasound. All of them had chromosome analysis by amniocentesis or cordocentesis. Nineteen (52.78%) had one or more abnormal findings. The common sonographic findings included thickened nuchal fold (33.33%), short femur (19.44%), and mild pyelectasis (22.22%). The other uncommon abnormalities included major anomalies (cardiac malformations, ventriculomegaly, duodenal atresia, esophageal atresia), hyperechoic bowel, echogenic intracardiac foci, abnormalities of extremities. In this study, rare minor markers but more specific markers including sandal gap, clinodactyly and mid-phalanx hypoplasia of the fifth finger were demonstrated. CONCLUSION: About half of the fetuses with trisomy 21 had abnormal sonographic findings in the second trimester. The most common marker was thickened nuchal fold. Although prenatal ultrasound can not permit a definite diagnosis of trisomy 21, about half of them have sonographic markers, warranting cytogenetic testing.
T Tongsong; C Wanapirak; S Sirichotiyakul; P Sirivatanapa
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the Medical Association of Thailand = Chotmaihet thangphaet     Volume:  84     ISSN:  0125-2208     ISO Abbreviation:  J Med Assoc Thai     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-05-04     Completed Date:  2001-05-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7507216     Medline TA:  J Med Assoc Thai     Country:  Thailand    
Other Details:
Languages:  eng     Pagination:  274-80     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
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MeSH Terms
Abnormalities, Multiple / ultrasonography
Down Syndrome / complications,  ultrasonography*
Middle Aged
Neck / embryology,  ultrasonography
Pregnancy Trimester, Second
Prospective Studies
Ultrasonography, Prenatal*

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