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Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center.

Abstract：

OBJECTIVE:This study was undertaken to assess the value of minor ultrasonographic markers in predicting significant karyotypic abnormalities. STUDY DESIGN:A total of 2743 fetuses (14-24 weeks' gestation) prospectively underwent a detailed ultrasonographic survey before genetic amniocentesis. Criteria for 8 minor ultrasonographic markers were established. Odds ratios for significant karyotypic abnormalities in the presence of minor ultrasonographic markers were calculated with the chi(2) and Fisher exact tests. RESULTS:Of the fetuses, 14.6% had a single minor ultrasonographic marker, 2.1% had >/=2 minor ultrasonographic markers, and 2.7% had >/=1 major ultrasonographic abnormality. One hundred four fetuses (3.8%) had an abnormal karyotype. Compared with a normal ultrasonographic examination result a single minor ultrasonographic marker increased the risk of karyotypic abnormality 5.7-fold (95% confidence interval, 3.5-9.3), whereas multiple minor markers increased the risk of an abnormal karyotype 12-fold (95% confidence interval, 5.5-26.5). When they were identified ultrasonographically in isolation, echogenic bowel, 2-vessel umbilical cord, echogenic intracardiac foci, choroidal separation, and choroid plexus cysts were statistically associated with an abnormal karyotype. When minor markers were identified in clusters of >/=2, echogenic bowel, short femur, 2-vessel umbilical cord, echogenic intracardiac foci, and mild ventriculomegaly were significantly predictive of karyotypic abnormality. With respect to the a priori aneuploidy risk of 1:26 and the a priori Down syndrome risk of 1:50, a normal ultrasonographic examination result reduced the risks to 1:67 and 1:120, respectively. The use of minor ultrasonographic markers in addition to major ultrasonographic abnormalities increased the detection of karyotypic abnormality from 27.9% to 68.3%. For trisomy 21 the sensitivity rose from 16.4% to 67. 3%. CONCLUSIONS:Significant karyotypic abnormality risk assessment by ultrasonography was greatly enhanced by the addition of minor ultrasonographic markers. Further, clusters of minor ultrasonographic markers greatly increased the likelihood of karyotypic abnormality compared with a single minor marker. A completely normal ultrasonographic examination result reduced the risk of an abnormal karyotype by 62%. Inclusion of minor ultrasonographic markers in the genetic sonogram in a high-risk population will allow the detection of 68% of fetuses with karyotypic abnormalities with a false-positive rate of 17%.

journal_name

Am J Obstet Gynecol

journal_title

American journal of obstetrics and gynecology

authors

Sohl BD,Scioscia AL,Budorick NE,Moore TR

doi

10.1016/s0002-9378(99)70322-4

subject

Has Abstract

pub_date

1999-10-01 00:00:00

pages

898-903

issue

eissn

0002-9378

issn

1097-6868

pii

S0002-9378(99)70322-4

journal_volume

181

pub_type

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Utility of minor ultrasonographic markers in the prediction of abnormal fetal karyotype at a prenatal diagnostic center.