Ultrasonographic soft markers of aneuploidy in second trimester

Are we lost?

Sameer Raniga, P. D. Desai, Hetal Parikh

Research output: Contribution to journalReview article

21 Citations (Scopus)

Abstract

Chromosomal abnormalities occur in 0.1% to 0.2% of live births, and the most common clinically significant aneuploidy among live-born infants is Down syndrome (trisomy 21). Other sonographically detectable aneuploidies include trisomy 13, 18, monosomy X, and triploidy. Second-trimester ultrasound scan detects 2 types of sonographic markers suggestive of aneuploidy. Markers for major fetal structural abnormalities comprise the first type; the second type of markers are known as "soft markers" of aneuploidy. These latter markers are nonspecific, often transient, and can be readily detected during the second-trimester ultrasound. The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, rhizomelic limb shortening, mild fetal pyelectasis, echogenic bowel, and echogenic intracardiac focus and choroid plexus cyst. There is a great deal of interest in the ultrasound detection of aneuploidy, as evidenced by the large number of publications in the literature on this topic. Unfortunately, studies evaluating the significance of the soft markers of aneuploidy vary widely and show contradictory results. In this article, we review the most common ultrasonographic soft markers used to screen aneuploidy and discuss ultrasonographic technique and measurement criteria for the detection of soft markers. We also review the clinical relevance of soft markers to aneuploidy risk assessment and evidence-based strategies for the management of affected pregnancies with each of these markers in light of current literature.

Original languageEnglish
JournalMedGenMed Medscape General Medicine
Volume8
Issue number1
Publication statusPublished - 2006

Fingerprint

Second Pregnancy Trimester
Aneuploidy
Down Syndrome
Echogenic Bowel
Pyelectasis
Nuchal Translucency Measurement
Triploidy
Turner Syndrome
Choroid Plexus
Live Birth
Chromosome Aberrations
Publications
Cysts
Extremities
Pregnancy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Ultrasonographic soft markers of aneuploidy in second trimester : Are we lost? / Raniga, Sameer; Desai, P. D.; Parikh, Hetal.

In: MedGenMed Medscape General Medicine, Vol. 8, No. 1, 2006.

Research output: Contribution to journalReview article

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