Open AccessUltrasonographic soft markers of aneuploidy in second trimester fetuses
Author(s) -
Mohammed K. Ali,
Sherif A. Shazly,
Ali H. Ali,
Ahmed Y. Abdelbadee,
Ahmed M. Abbas
Publication year - 2012
Publication title -
middle east fertility society journal/middle east fertility society journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.322
H-Index - 18
eISSN - 2090-3251
pISSN - 1110-5690
DOI - 10.1016/j.mefs.2012.04.007
Subject(s) - aneuploidy , fetus , second trimester , first trimester , medicine , obstetrics , biology , pregnancy , genetics , chromosome , gene
Objective: To evaluate ultrasound “soft markers” used in fetal genetic screening.Options: Ultrasound screening at 16–20 weeks is one of the most common genetic screening tests used during pregnancy. The practical concern for ultrasound screening is false-positive and false-negative results. The use and understanding of ultrasound soft markers and their screening relative risks are an important option in the care of pregnant women.Introduction: Chromosomal abnormalities occur in 0.1–0.2% of live births, and the most common clinically significant aneuploidy among live-born infants is Down’s syndrome (trisomy 21). Soft markers of aneuploidy are nonspecific, often transient, and can be readily detected during the second and third trimester ultrasound. The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, mild fetal pyelectasis, echogenic bowel, 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