Sonographic Detection of Trisomy 13 in the First and Second Trimesters of Pregnancy

Objectives The purpose of this study was to examine sonographic findings in fetuses with trisomy 13. Methods A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 13. The prenatal sonographic studies in fetuses of less than 22 w...

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Bibliographic Details
Published in:Journal of ultrasound in medicine 2007-09, Vol.26 (9), p.1209-1214
Main Authors: Watson, William J, Miller, Richard C, Wax, Joseph R, Hansen, Wendy F, Yamamura, Yasuko, Polzin, William J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
aneuploidy
Chromosomes, Human, Pair 13
Female
Humans
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
prenatal diagnosis
Retrospective Studies
sonography
Trisomy
trisomy 13
Ultrasonography, Prenatal
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Summary:Objectives The purpose of this study was to examine sonographic findings in fetuses with trisomy 13. Methods A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 13. The prenatal sonographic studies in fetuses of less than 22 weeks' gestation, done before invasive testing for karyotype, were reviewed for anatomic and biometric findings. We defined abnormal fetal biometric findings as a biometric measurement (biparietal diameter, abdominal circumference, or femur length) below the fifth percentile in the second trimester. Results There were 8 cases of trisomy 13 found in the first trimester and 54 cases found in the second trimester, a total of 62 in all. In the first trimester, 6 of 8 had an anomaly identified (4 with cystic hygroma). In the second trimester, 49 of 54 were identified by sonography; 45 had an anomaly, and 4 had an abnormal fetal biometric measurement without an anomaly. The 5 missed diagnoses had early gestational age (
ISSN:0278-4297
1550-9613
DOI:10.7863/jum.2007.26.9.1209