Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience

Feuchtbaum, Lisa; Currier, Robert; Lorey, Fred; Cunningham, George C.

doi:10.1002/(sici)1097-0223(200004)20:4<293::aid-pd801>3.0.co;2-o

Cited by 20 publications

(12 citation statements)

References 32 publications

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“…They are seen in up to half of second-trimester fetuses and are often found with other anomalies. [3][4][5][6][7][8][9][10][11][12][13] In the nearly 2 decades since the initial report by Chudleigh et al, 1 a large volume of literature has been published regarding the sonographic detection of choroid plexus cysts in the second trimester. Despite this, a consensus of opinion has yet to be reached on the genetic significance and appropriate management when these cysts are detected as an isolated finding.…”

contrasting

confidence: 70%

“…Previously published reports detailing the sonographic findings with trisomy 18 show that, although choroid plexus cysts are seen frequently, most are present with other sonographic findings. [5][6][7][8][9][10][11][12][13] In the 223 fetuses from these combined series that had second-trimester sonograms, isolated choroid plexus cysts were not a common finding (6.7%).…”

Section: Discussionmentioning

confidence: 99%

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Second-Trimester Sonography and Trisomy 18

Bronsteen

Lee

Vettraino

et al. 2004

Journal of Ultrasound in Medicine

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Objective. To estimate the risk of trisomy 18 with the finding of isolated choroid plexus cysts after a standard sonographic examination that is extended to include the fetal hands. Methods. A retrospective chart review was performed on all fetuses with choroid plexus cysts on second-trimester sonographic examinations. When choroid plexus cysts were identified, our standard protocol for fetal evaluation was expanded to include the hands. If no other findings were noted on completion of this examination, the choroid plexus cysts were classified as "isolated." These results were correlated with the presence or absence of trisomy 18 to determine the impact of this approach for the detection of fetuses with this aneuploidy. Results. From March 1990 to the end of 2001, 49,435 fetuses that were subsequently delivered at our hospital were scanned between 16 and 25 menstrual weeks. At least 1 choroid plexus cyst was detected in 1209 fetuses (2.3%), of which 1060 were isolated. No fetuses with isolated choroid plexus cysts had trisomy 18. However, 3 fetuses with trisomy 18 had choroid plexus cysts and abnormal hands as their only abnormal findings. Conclusions. Fetuses with an apparently isolated finding of choroid plexus cysts can be further evaluated by extending the standard examination to include the hands. If no other findings are identified, the risk of trisomy 18 appears to be low. Key words: antenatal sonography; choroid plexus cysts; trisomy 18. n 1984, Chudleigh et al 1 published the initial report on the prenatal detection of choroid plexus cysts by prenatal sonography. At that time, it was thought to be a finding without pathologic significance. Two years later, the association of choroid plexus cysts with trisomy 18 was first suggested. Received July 8, 2003, from the Division of Fetal Imaging, Department of Obstetrics and Gynecology (R.B., W.L., I.M.V., C.H.C.), and Division of Biostatistics (R.H.), William Beaumont2 Subsequent studies indicated that choroid plexus cysts are a common finding with trisomy 18. They are seen in up to half of second-trimester fetuses and are often found with other anomalies. [3][4][5][6][7][8][9][10][11][12][13] In the nearly 2 decades since the initial report by Chudleigh et al, 1 a large volume of literature has been published regarding the sonographic detection of choroid plexus cysts in the second trimester. Despite this, a consensus of opinion has yet to be reached on the genetic significance and appropriate management when

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contrasting

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Second-Trimester Sonography and Trisomy 18

Bronsteen

Lee

Vettraino

et al. 2004

Journal of Ultrasound in Medicine

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“…13 We found that most fetuses with trisomy 18 had major congenital heart disease (84%) and central nervous system abnormalities (87%) on sonography. Our sensitivity for prenatally detecting major heart disease was much higher than that of most other studies, which reported varying sensitivities, such as 8%, 3 37%, 4 38%, 2 39%, 15 and 67%. 8 This may be attributable to the detail with which each fetal heart is examined sonographically at our institution.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features

Yeo

Guzman

Day‐Salvatore

et al. 2003

J of Ultrasound Medicine

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Objective. To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine the sensitivity of sonographically detecting fetuses with trisomy 18. Methods. All genetic and cytogenetic records of fetuses with trisomy 18 were reviewed retrospectively (1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002). From these, singleton fetuses who had prenatal sonography at our unit were identified. The maximal numbers of individual abnormalities from 1 sonographic examination (not limited to type of organ system) were recorded. Each abnormality was classified as major, minor, or "other," and each organ system was classified as abnormal only once, regardless of the number of individual abnormalities identified in that system. The sensitivity of sonography in detecting abnormalities of trisomy 18 was determined. Results. Of 38 fetuses identified with trisomy 18, all had 4 or more prenatally detected sonographic abnormalities (sensitivity of sonographic detection of fetuses with trisomy 18, 100%). The median number of abnormalities per examination was 8 (range, 4-19). Sonographically detected major abnormalities were cardiac (84%; n = 32), central nervous system (87%; n = 33), gastrointestinal (26%; n = 10), and genitourinary (16%; n = 6). Sonographically detected minor abnormalities were short ear length below the 10th percentile for gestational age (96%; n = 26/27), upper extremities and hands (95%; n = 36), lower extremities and feet (63%; n = 24), and face (53%; n = 20). Fifty percent (19 of 38) had choroid plexus cysts identified, but this was never an isolated finding. Conclusions. In experienced hands, the sensitivity of detecting fetal trisomy 18 on prenatal sonography is 100%, and all cases will have multiple anomalies visualized.

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“…Of the 23 fetuses, 65% (n = 15) had abnormal ultrasonographic findings. 22 Congenital heart defects were identified in 39% of fetuses. 22 The authors also reported results from 142 cases of trisomy 18 during a more recent survey (1997 to 1999) and found the ultrasonographic detection rate for trisomy 18 was virtually identical (66%).…”

Section: Discussionmentioning

confidence: 99%

Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18.

DeVore¹

2000

Journal of Ultrasound in Medicine

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n 1984 maternal serum screening for aneuploidy was ushered in when trisomy 18 was identified in a patient in whom the maternal serum AFP level was undetectable. 1 After making this observation, Merkatz and associates examined maternal serum from 41 women who had fetuses with aneuploidy and found that the AFP multiple of the median was lower in fetuses with aneuploidy than in control fetuses. 1 After this observation, numerous investigators reported the association between maternal serum markers and an increased risk for trisomy 21. [2][3][4] Although attention has focused primarily on the detection of trisomy 21, approximately 50% of trisomy 18 fetuses can be identified through maternal serum screening programs. [5][6][7] When women are informed of their increased risk for trisomy 18 after maternal serum screening, many elect to undergo amniocentesis. However, not all atrisk women elect to undergo invasive testing because of the associated risk for pregnancy loss. 8 In 1998 the Genetic Disease Branch of the California Department of Health Sciences screened 353,336 women and identified 1094 who were screen positive for trisomy 18 and eligible for genetic amniocentesis. Of this group, 29.9% (n = 327) declined amniocentesis (personal communication). Abnormal fetal anatomy was present in 97% of fetuses with trisomy 18, with a false-positive rate of 15.7%. Logistic regression identified six markers (choroid plexus cysts, central nervous system malformations, an abnormal nuchal skin fold, ventricular septal defect, outflow tract abnormalities of the heart, and right-to-left chamber disproportion of the heart) and one interaction between markers (right-to-left chamber disproportion and outflow tract abnormalities) to significantly contribute to the identification of 93% of fetuses with trisomy 18, with a false-positive rate of 8.9%. Noncardiovascular markers (choroid plexus cysts, central nervous system malformations, and abnormal nuchal skin fold) identified 77% of fetuses with trisomy 18, with a false-positive rate of 3.9%. Combining rightto-left chamber disproportion of the heart with choroid plexus cysts, central nervous system malformations, and nuchal skin folds identified 83% of fetuses with trisomy 18, with a false-positive rate of 4.4%.

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Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience

Cited by 20 publications

References 32 publications

Second-Trimester Sonography and Trisomy 18

Second-Trimester Sonography and Trisomy 18

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features

Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18.

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