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

Sohl, Bryan D.; Scioscia, Angela L.; Budorick, Nancy E.; Moore, Thomas R.

doi:10.1016/s0002-9378(99)70322-4

Cited by 68 publications

(38 citation statements)

References 20 publications

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“…In comparison, a single marker is observed in more than 11% of normal fetuses compared with 22.6% of fetuses with trisomy 21. Similarly, Sohl et al 38 observed a single marker in 14.6% of normal fetuses. On the basis of these data, a single marker increases the risk 2-fold; 2 markers increase the risk nearly 10-fold; and 3 or more markers increase the risk more than 100-fold.…”

Section: Markersmentioning

confidence: 74%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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Objective. Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific-most frequently seen in normal fetuses, and are often transient. Our objective was to review the secondtrimester sonographic findings of the major trisomic conditions, trisomies 13, 18, and 21. Methods. We reviewed a number of the most commonly accepted markers, including nuchal thickening, hyperechoic bowel, echogenic intracardiac focus, renal pyelectasis, shortened extremities, mild cerebral ventricular dilatation, and choroid plexus cysts. Markers associated with trisomy 21 were emphasized. Results. The sensitivity of sonography for detection of fetal trisomic conditions varies with the type of chromosome abnormality, gestational age at the time of sonography, reasons for referral, criteria for positive sonographic findings, and the quality of the sonography. As an estimate, 1 or more sonographic findings can be identified in approximately 90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to 70% of fetuses with trisomy 21 (Down syndrome). Conclusions. The presence or absence of sonographic markers can substantially modify the risk of fetal Down syndrome and is the basis of the so-called genetic sonogram. Because maternal biochemical and sonographic markers are largely independent, combined risk estimates will result in even higher detection rates than either alone.

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Section: Markersmentioning

confidence: 74%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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“…Thus, in most aneuploid gestations, SUA will be observed on ultrasound in association with other structural anomalies. The relative risk for aneuploidy was calculated to be 9.4 when SUA was an isolated finding, increasing to 16.4 if other minor sonographic markers were also detected 11 . Isolated SUA should apparently not be considered as an indication for prenatal evaluation of fetal chromosomes 12 .…”

Section: Single Umbilical Arterymentioning

confidence: 99%

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Weissman

Drugan

2001

Ultrasound in Obstet & Gyne

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“…4 Separation of the choroid from the medial ventricular wall by 3 mm or greater ( Figure 2) has been associated with an abnormal outcome. [5][6][7] Prior studies on this finding have shown an association with trisomy 21 and developmental problems. These studies, however, have not detailed the natural history of choroid plexus separation or completely excluded cases with other sonographic findings.…”

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confidence: 66%

Isolated Choroid Plexus Separation on Second‐Trimester Sonography

Bronsteen

Lee

Vettraino

et al. 2006

J of Ultrasound Medicine

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Objective. This study was undertaken to investigate the natural history and clinical importance of choroid plexus separation (a ≥3 mm distance between the choroid plexus and medial wall of the lateral ventricle) as an isolated finding in the second trimester. Methods. This was a 5-year retrospective review of an ultrasound database, looking for singleton fetuses with a menstrual age of 16 to 26 weeks and a finding of isolated choroid plexus separation. Results. There were 78 cases available for study. The finding of choroid plexus separation was usually transient. Resolution was noted in 37% of the cases that were rescanned within 2 weeks and 71% of the cases that were rescanned more than 2 weeks after the initial diagnosis. Two abnormal karyotypes (trisomy 21 and 47,XXY) and 3 cases with abnormal development not associated with an abnormal karyotype were noted on neonatal followup. Cases with abnormal development were quite varied in their presentation. Conclusions. The finding of isolated choroid plexus separation is usually temporary, resolving in most cases within 4 weeks of the initial diagnosis. Most infants with this finding have no abnormalities. The clinical implication of the lone case of trisomy 21 was limited by a major preexisting risk in this patient. The 3 cases of abnormal development had varying presentations; the causal nature of this association is not yet clear. No trends were noted between the changing choroid plexus appearance with time and abnormal neonatal outcome, but the number of abnormal cases was quite limited.

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

Cited by 68 publications

References 20 publications

Sonographic markers of fetal trisomies: second trimester.

Sonographic markers of fetal trisomies: second trimester.

Sonographic findings of the umbilical cord: implications for the risk of fetal chromosomal anomalies

Isolated Choroid Plexus Separation on Second‐Trimester Sonography

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