Clinical significance of fetal choroid plexus cysts

Gupta, Janesh; Farrell, Tom; Hau, Cathy; Cave, Mairead; Lilford, Richard; Irving, Henry; Mason, Gerald

doi:10.1016/s0140-6736(95)91502-8

Cited by 82 publications

(46 citation statements)

References 23 publications

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“…5) have been the most controversial and the subject of considerable interest. [16][17][18][19][20][21] Like other SMFA, choroid plexus cysts are a relatively common variant during the second trimester, are transient, and have no known effect on fetal development. Unlike some of the other potential markers (e.g., nuchal thickening and hyperechoic bowel), choroid plexus cysts have no known association with other adverse outcomes when the karyotype is normal.…”

Section: Markersmentioning

confidence: 99%

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: 99%

Sonographic markers of fetal trisomies: second trimester.

Nyberg

Souter

2001

J of Ultrasound Medicine

112

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“…5,6 Usually, other abnormal ultrasound findings differentiate these chromosomal aneuploidies from an isolated CPC. [7][8][9] However, several studies have reported that an isolated CPC on prenatal ultrasound may confer a slightly higher risk of trisomy 21 3,10 and 18, 1,11,12 which becomes more significant if additional risk factors, such as advanced maternal age, are present. [12][13][14][15][16][17] Alternatively, several studies also indicate that when detected in isolation, CPCs are benign variants that do not confer an increased risk of trisomy 18 or 21.…”

Section: Introductionmentioning

confidence: 99%

Women's response to fetal choroid plexus cysts detected by prenatal ultrasound

et al. 2006

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Objectives: To determine maternal responses to detection of a minor structural variant, the choroid plexus cyst (CPC), in their fetus on prenatal ultrasound. Study design:We interviewed 34 pregnant women with an isolated CPC detected on mid-pregnancy ultrasound about their objective experience at diagnosis, emotional response and subsequent reactions. Audiotaped, transcribed responses were evaluated by two independent raters and analyzed qualitatively and quantitatively.Results: All women reported negative emotional responses including shock, distress, fear and decreased attachment, despite counseling by 82% of providers that the CPC was probably benign. Three women underwent amniocentesis purely for reassurance after CPC detection. Most (79%) sought information beyond what their physician provided, frequently on the internet. One half of women reported that intense negative responses were temporary. However, weeks after diagnosis, 62% continued to believe that the CPC presented some danger to their baby.Conclusions: Detection of CPC prenatally can evoke profound, negative maternal emotional responses despite accurate provider counseling. Practitioners should consider these responses when counseling parents about these and other structural variants of unclear functional significance.Sponsor: The Thomas Wilson Sanitarium for the Children of Baltimore City.

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“…20,21 Despite the low incidence, CPC has clinical implications for aneuploidy because of an association of choroid plexus with trisomy 18 2,[5][6][7][8][9][10][11][12]22 and trisomy 21. 4,10,13,19,[22][23][24] Researchers have been more concerned with trisomy 18 because the prevalence of CPC for fetuses with trisomy 21 and for the general population are the same. 13,23,24 Prenatal sonography in 44% to 50% of pregnancies with trisomy 18 show CPC, 15,16 whereas only 1.4% of pregnancies with trisomy 21 show CPC.…”

Section: Epidemiologymentioning

confidence: 99%

“…4,10,13,19,[22][23][24] Researchers have been more concerned with trisomy 18 because the prevalence of CPC for fetuses with trisomy 21 and for the general population are the same. 13,23,24 Prenatal sonography in 44% to 50% of pregnancies with trisomy 18 show CPC, 15,16 whereas only 1.4% of pregnancies with trisomy 21 show CPC. 13 Approximately three fourths of abnormal fetal karyotypes associated with choroid plexus cysts are trisomy 18 and one fourth are trisomy 21.…”

Section: Epidemiologymentioning

confidence: 99%