Fetal choroid plexus cysts: are we there yet?

Walkinshaw, Stephen

doi:10.1002/1097-0223(200008)20:8<657::aid-pd866>3.0.co;2-s

Cited by 38 publications

(23 citation statements)

References 49 publications

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“…16,17 Among the 5812 fetuses with isolated choroid plexus cysts covered in these 2 reviews, 47 had trisomy 18, giving a risk of 0.8% (1 per 124). These overall statistics should be interpreted cautiously, however, because they represent findings from many different sonography units, each reporting on a relatively limited number of cases of isolated choroid plexus cysts.…”

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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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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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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“…16,17 The risk of aneuploidy is not increased with isolated choroids plexus cyst. 3,9 However, the pregnant women detected to have choroid plexus cyst in the fetus were also informed that USG may not be able to detect all associated malformations, and rarely a fetus with isolated choroid plexus cyst may have chromosomal abnormality. Same is true for single umbilical artery.…”

Section: Counselingmentioning

confidence: 99%

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Sharda

Phadke

2007

J Perinatol

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Objective: Use of soft ultrasonographic markers during routine prenatal ultrasonography (USG) may be used for the screening of aneuploidy in the low-risk population. The aim of this study was to evaluate the acceptance of an invasive test for prenatal diagnosis and to assess the role of various factors in the decision-making regarding an invasive test when confronted with risk for aneuploidy after a soft marker is detected on routine antenatal ultrasonogram.Study design: Women were referred for USG in our department by primary obstetricians for indications such as a previous child with a congenital malformation, genetic disorder, stillbirth or in women with recurrent spontaneous abortions. Some of the women were referred after prenatal detection of a soft marker on USG. They were screened for soft markers associated with chromosomal abnormality. They were counseled regarding the age-specific risk and the risk of aneuploidy after detection of a marker in comparison to the general population's risk of Down's syndrome. They were also counseled regarding the risk of a procedurerelated abortion (0.5%) following an invasive procedure before their decision regarding the use of amniocentesis was made.Result: Twenty women out of 50 (40%) opted for amniocentesis. Except in one case of trisomy 21 in a fetus with short femur and humerus, all others had normal karyotype. The uptake of the test was comparable between primigravida (33%), women with poor obstetric history (46%) and women with at least one normal live child (45%). There was no statistical difference in the uptake of invasive test based on gestational age as well. Uptake of amniocentesis was higher (78%) in cases with nuchal thickening as compared to other markers (35%).Conclusion: Ultrasonographic detection of soft markers is associated with a high frequency of uptake for invasive prenatal testing. Increased nuchal thickening is associated with a higher acceptance of amniocentesis. Maternal age, gestational age or previous obstetric history were not associated with the decision to undergo amniocentesis.

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“…CPCs are more prevalent in fetuses with trisomies 18 and 21, but the degree to which an isolated finding elevates risk for aneuploidy and whether parents should be informed of the finding remains the topic of vigorous debate. 1,[5][6][7][8] However, neither side of this debate disputes the tenet that isolated CPCs, when not associated with abnormal karyotypes, are benign variants of periventricular development without implications for subsequent pregnancy or child outcomes.…”

Section: Introductionmentioning

confidence: 99%

“…[16][17][18] The assumption that isolated CPCs with normal karyotyping are benign variants is predicated on the position that this variation in choroid plexus histology neither indicates persistent central pathology nor is a marker for dysgenesis in other portions of the nervous system. Given their transient and principally vascular nature, 8,19,20 we hypothesized that it is unlikely that their detection would connote atypical neural development with implications for functional development. As such, we did not expect to find differences between groups.…”

Section: Introductionmentioning

confidence: 99%

Choroid plexus cysts do not affect fetal neurodevelopment

DiPietro

Costigan

Cristofalo³

et al. 2006

J Perinatol

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Objective: To determine whether an isolated finding of a choroid plexus cyst (CPC) during routine ultrasound is associated with altered fetal growth or development.Study design: Prospective, case-control study comparing 35 CPC cases to 67 controls. Neurobehavioral development assessment included 50 min long serial recordings of heart rate, motor activity and their interrelation at 24, 28, 32 and 36 weeks gestation. Growth measurement was based on three ultrasound evaluations of femur length, biparietal diameter, head circumference and abdominal circumference at initial exam, 28 and 36 weeks.Results: Longitudinal analyses revealed no differences in fetal heart rate, variability or accelerations; the number or duration of fetal movements or total motor activity; nor fetal movement-fetal heart rate coupling. CPC cases had slightly smaller head and abdominal circumferences at 28 weeks, but these differences had disappeared by 36 weeks. CPC detection was more common when routine exams were conducted earlier (18.8 versus 19.5 weeks; P<0.01). Conclusion:Despite the presumption that CPCs with normal karyotypes are benign variants, little empirical support exists. These results indicate that CPCs detected by prenatal ultrasound do not pose or reveal a threat to fetal development.

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Fetal choroid plexus cysts: are we there yet?

Cited by 38 publications

References 49 publications

Second-Trimester Sonography and Trisomy 18

Second-Trimester Sonography and Trisomy 18

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Choroid plexus cysts do not affect fetal neurodevelopment

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