First-trimester sonographic findings in trisomy 18: a review of 53 cases.

Abstract

OBJECTIVE:

To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18.

METHODS:

Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was obtained by reviewing the ultrasound reports and medical records.

RESULTS:

During the 12-year period from July 1997 to June 2009, 53 cases of full trisomy 18 had first-trimester sonographic examination performed at our institution. All but one fetus displayed one or more abnormal sonographic finding, most commonly increased nuchal translucency thickness (n = 48, 91%). Absent or hypoplastic nasal bone was documented in 53% of the fetuses in which this marker was specifically looked for. Structural anomalies included omphalocele in 11 (21%), abnormal posturing of the hands in three (6%), megacystis in two (4%), and abnormal four-chamber view of the heart in two (4%). Early-onset fetal growth restriction and bradycardia were documented in 14 (26%) and 4 (8%) of the cases, respectively.

CONCLUSIONS:

Our study demonstrates that a large number of fetuses with trisomy 18 have abnormal sonographic findings in the first trimester. However, the sonographic features usually found in the second-trimester are difficult to detect at an early gestational age. The recognition of the specific first-trimester sonographic pattern of trisomy 18 may allow improved detection of this serious condition in early pregnancy.

• Authors: Waldo Sepulveda, Amy E Wong, Victor Dezerega
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 30 Issue 3 Pg. 256-9 (Mar 2010) ISSN: 1097-0223 [Electronic] England
• PMID: 20112232 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright (c) 2010 John Wiley & Sons, Ltd.

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Chromosomes, Human, Pair 18
• Congenital Abnormalities (diagnostic imaging, genetics)
• Female
• Fetal Diseases (diagnostic imaging, genetics)
• Fetal Growth Retardation (diagnostic imaging, genetics)
• Humans
• Male
• Neck (diagnostic imaging, embryology)
• Nuchal Translucency Measurement
• Pregnancy
• Pregnancy Trimester, First
• Trisomy
• Ultrasonography, Prenatal (methods)