Prenatal sonographic findings of trisomy 18: review of 47 cases

Nyberg, David A.; Kramer, Dawna J.; Resta, Robert G.; Kapur, Raj P.; Mahony, Barry S.; Luthy, David A.; Hickok, Durlin E.

doi:10.7863/jum.1993.12.2.103

Cited by 122 publications

(66 citation statements)

References 12 publications

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“…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%

“…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.…”

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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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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Second-Trimester Sonography and Trisomy 18

Bronsteen

Lee

Vettraino

et al. 2004

Journal of Ultrasound in Medicine

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“…In the study reported by Shimizu et al, the predictive value of ear length measurement was similar to or better than that of the nuchal fold. However, there are questions regarding the validity of this ratio in cases of Trisomy 21 and Trisomy 18 with growth retardation (3,14). An abnormally small ear is associated with chromosomal abnormalities as well as with other structural abnormalities (15).…”

Section: Discussionmentioning

confidence: 99%

Sonographic Measurement of Fetal Ear Length in Turkish Women with a Normal Pregnancy

Özdemir¹,

Uzun²,

Karahasanoğlu³

et al. 2015

Balkan Med J

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Abnormal fetal ear length is a feature of many chromosomal anomalies and aneuploidy conditions (1-3). In many studies, fetal ear length measurement has been identified as an additional marker for fetal chromosomal anomalies (4,5).Fetal ear length measurement is one that can be obtained during virtually all ultrasonographic examinations, from early in the second trimester of pregnancy until delivery. Moreover, ultrasound is a cheap and non-hazardous imaging modality. This provides the sonographer with a simple and effective means to assess fetal ear length, which is an additional marker for chromosomal anomalies.There have been a few studies that have given prenatal standards for fetal ear length measurement (5, 6). However, the majority of these studies have focused on Western populations. In this cross-sectional study, we measured the ear lengths of fetuses of Turkish women with normal pregnancies between 16 and 28 weeks gestation, in order to build an intrauterine ear length nomogram of our population. Our aim was to help to define normal and abnormal fetal ear lengths, particularly in the Turkish population.We hope that this specific nomogram will be better tailored to the Turkish population than the nomograms based on Western population data. MATERIAL AND METHODSEar length measurements were obtained prospectively in 389 singleton fetuses of gestations between 16 and 28 weeks. All sonographic evaluations were performed between August 2009 and August 2010 in the prenatal diagnosis unit at the Süleymaniye Maternity Hospital using a Voluson 730 Expert machine (Voluson 730 ;General Electric, Tiefenbach, Austria) fitted with a 2-7 MHz convex abdominal probe. The study was Background: Abnormal fetal ear length is a feature of chromosomal disorders. Fetal ear length measurement is a simple measurement that can be obtained during ultrasonographic examinations. Aims: To develop a nomogram for fetal ear length measurements in our population and investigate the correlation between fetal ear length, gestational age, and other standard fetal biometric measurements. Study Design: Cohort study. Methods: Ear lengths of the fetuses were measured in normal singleton pregnancies. The relationship between gestational age and fetal ear length in millimetres was analysed by simple linear regression. In addition, the correlation of fetal ear length measurements with biparietal diameter, head circumference, abdominal circumference, and femur length were evaluated.Ear length measurements were obtained from fetuses in 389 normal singleton pregnancies ranging between 16 and 28 weeks of gestation.Results: A nomogram was developed by linear regression analysis of the parameters ear length and gestational age. Fetal ear length (mm) = y = (1.348 X gestational age)-12.265), where gestational ages is in weeks. A high correlation was found between fetal ear length and gestational age, and a significant correlation was also found between fetal ear length and the biparietal diameter (r=0.962; p<0.001). Similar correlations were found between fe...

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“…Twenty-five expressed interest, but did not call to enroll. Other women who did not enroll had scheduling problems (3), lived too far or anticipated moving (6), or simply declined participation (8). A total of 35 women were enrolled.…”

Section: Participantsmentioning

confidence: 99%

“…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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Prenatal sonographic findings of trisomy 18: review of 47 cases

Cited by 122 publications

References 12 publications

Second-Trimester Sonography and Trisomy 18

Second-Trimester Sonography and Trisomy 18

Sonographic Measurement of Fetal Ear Length in Turkish Women with a Normal Pregnancy

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

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