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Original ArticleOpen Access
Prenatal Sonographic Markers of Trisomy 21
Tongsong T 
,
Wanapirak C ,
Sirichotiyakul S ,
Sirivatanapa P
,
Wanapirak C ,
Sirichotiyakul S ,
Sirivatanapa P CHANANE WANAPIRAK, M.D.*,
PANNEE SIRIVATANAPA,M.D.*
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 eva-
luated 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.
Key word : Trisomy 21, Prenatal Diagnosis, Ultrasound
PANNEE SIRIVATANAPA,M.D.*
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 eva-
luated 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.
Key word : Trisomy 21, Prenatal Diagnosis, Ultrasound
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