Antenatal sonographic findings in trisomy 18.

Bundy, A L; Saltzman, Daniel H.; Pober, Barbara R.; Fine, Calliope; Emerson, Donald E.; Doubilet, Peter M.

doi:10.7863/jum.1986.5.7.361

Cited by 57 publications

(22 citation statements)

References 3 publications

(3 reference statements)

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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%

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confidence: 99%

Second-Trimester Sonography and Trisomy 18

Bronsteen

Lee

Vettraino

et al. 2004

Journal of Ultrasound in Medicine

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“…Salihu et al 6 found that of their 11 cases of trisomy 18, only 64% had prenatally detected sonographic anomalies, with polyhydramnios (n = 4) being the most commonly seen abnormality. Bundy et al 3 found that of 12 cases with antenatal sonograms available, the actual diagnosis of trisomy 18 was suggested antenatally only twice, and chromosomal studies were prompted by sonographic findings in only 4 cases. In 1993, Nyberg et al 2 found that when choroid plexus cysts were excluded, 83% of fetuses with trisomy 18 (39 of 47) had 1 or more sonographic abnormalities (range, 0-6) identified.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4] There are several studies that have described the types and frequencies of prenatal sonographic findings in fetuses with trisomy 18. [2][3][4][5][6] However, in most studies, descriptions of the normal content and detail of their routine prenatal sonographic examinations were not provided. Only 2 studies provided descriptions about the content of the sonographic examinations in detecting trisomy 18.…”

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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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“…About 95% die in utero, of liveborn infants, only 50% live to 2 months and only 5-10% will survive their first year of life 2,3) . Congenital heart disease is the major cause of death 1,4) .…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy of chromosome 18q11.2-q12: A case report

et al. 2009

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= Abstract = Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient. (Korean J Pediatr 2009;52:1171-1174

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Antenatal sonographic findings in trisomy 18.

Cited by 57 publications

References 3 publications

Second-Trimester Sonography and Trisomy 18

Second-Trimester Sonography and Trisomy 18

Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features

Partial trisomy of chromosome 18q11.2-q12: A case report

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