Abstract
BackgroundSome ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.MethodsAmong 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis.ResultsAmong 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups.ConclusionsGenetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
Highlights
Some ultrasonic soft markers can be found during ultrasound examination
No significant difference was found in the rate of abnormal copy number variations (CNVs) among the fetuses with ultrasonic soft markers (X2 = 0.183, P = 0.913) (Table 3)
In conclusion, we found an association between ultrasonic soft markers and genetic abnormalities in fetuses
Summary
Some ultrasonic soft markers can be found during ultrasound examination. the etiology of the fetuses with ultrasonic soft markers is still unknown. With the rapid development of high-resolution ultrasound and prenatal ultrasound diagnostic techniques, some ultrasonic soft markers can be found during ultrasound examination [1]. These ultrasonic soft markers include thickened nuchal translucency, ventriculomegaly, absent nasal bone, hyperechogenic bowel, choroid plexus cyst, short femur, echogenic intracardiac focus, mild tricuspid regurgitation, pyelectasis, single umbilical artery, To explore the relationship among ultrasonic soft markers, genetic abnormalities in fetus, and its influence on pregnancy outcome, we systematically analyzed the relationship between ultrasonic soft markers and genetic abnormalities by observing 1131 fetuses with ultrasonic soft markers, aiming at expounding the utility of SNP array in fetus with ultrasonic soft markers.
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