J Genet Med.  2014 Dec;11(2):49-55. 10.5734/JGM.2014.11.2.49.

Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

  • 1Department of Obstetrics and Gynecology, Catholic University of Daegu, Daegu, Korea. magu815@cu.ac.kr


Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.


Genetic ultrasonography; Chromosome aberrations; Down syndrome; Soft marker
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