Prenatal sonographic markers of trisomy 21.
OBJECTIVE
To describe the sonographic characteristics of fetuses with trisomy 21.


METHODS
A prospective descriptive analysis.


METHODS
Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University.


METHODS
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.


CONCLUSIONS
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.
Tongsong
T
T
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
Wanapirak
C
C
Sirichotiyakul
S
S
Sirivatanapa
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D004314:Down Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal