PMID: 11180239Feb 17, 2001Paper

The genetic sonogram: its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age

Prenatal Diagnosis
G R DeVore

Abstract

Real-time and color Doppler ultrasound were used to examine 103 second trimester fetuses with abnormal chromosomes (trisomies 13, 18, 21 and sex aneuploidy =86; other =17) and 2000 controls from women of advanced maternal age who electively underwent genetic amniocentesis. Ten ultrasound markers were analyzed and likelihood ratios were computed for each abnormal ultrasound finding and for a normal ultrasound study if none of the ten markers were present. Abnormal ultrasound markers were present in 81% of fetuses with abnormal karyotypes. The false-positive rate was 13%. The likelihood ratios and the 5% and 95% confidence limits for each of the ultrasound markers were as follows: choroid plexus cyst(s) 1.5 (0.7-3.6); central nervous system abnormalities 16.2 (4.4-60.3); abnormal nuchal skin fold 20.9 (8.4-52.1); ventricular septal defect 8.3 (4.7-14.9); outflow tract defects of the heart 3.6 (0.9-14.6); right-to-left chamber disproportion of the heart 36.9 (14.4-94.5); pericardial effusion 7.2 (3.2-16.1); tricupsid regurgitation 4.7 (2.1-10.7); hyperechoic bowel 3.7 (1.8-7.7); and pyelectasis 2.7 (1.0-7.7). All ultrasound markers were independent of each other. The likelihood ratio following a normal ultrasound study was 0.20. I...Continue Reading

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