Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts

A. Beke, Emese Barakonyi, Zorán Belics, József G. Joó, Ákos Csaba, C. Papp, E. Tóth-Pál, Z. Papp

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Objectives: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). Methods: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. Results: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). Conclusions: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

Original languageEnglish
Pages (from-to)185-191
Number of pages7
JournalFetal Diagnosis and Therapy
Volume23
Issue number3
DOIs
Publication statusPublished - Feb 2008

Fingerprint

Choroid Plexus
Chromosome Aberrations
Cysts
Oligohydramnios
Abnormal Karyotype
Polyhydramnios
Genetic Counseling
Karyotype
Chromosome Disorders
Karyotyping
Second Pregnancy Trimester
Down Syndrome
Chromosomes

Keywords

  • Chorionic villus sampling
  • Choroid plexus cyst
  • Chromosome abnormality
  • Genetic amniocentesis
  • Karyotyping
  • Ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts. / Beke, A.; Barakonyi, Emese; Belics, Zorán; Joó, József G.; Csaba, Ákos; Papp, C.; Tóth-Pál, E.; Papp, Z.

In: Fetal Diagnosis and Therapy, Vol. 23, No. 3, 02.2008, p. 185-191.

Research output: Contribution to journalArticle

Beke, A. ; Barakonyi, Emese ; Belics, Zorán ; Joó, József G. ; Csaba, Ákos ; Papp, C. ; Tóth-Pál, E. ; Papp, Z. / Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts. In: Fetal Diagnosis and Therapy. 2008 ; Vol. 23, No. 3. pp. 185-191.
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abstract = "Objectives: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). Methods: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4{\%}) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. Results: The total risk of chromosome abnormalities was 3.59{\%} (n = 14) and risk of trisomies was 2.05{\%} (n = 8). Trisomy 18 was found in 6 cases (1.54{\%}), trisomy 21 in 1 case (0.26{\%}), and trisomy 9 in 1 case (0.26{\%}). The risk of 45,X karyotype was 0.77{\%} (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3{\%}). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93{\%}). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57{\%}). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55{\%}). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3{\%}). Conclusions: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.",
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T1 - Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts

AU - Beke, A.

AU - Barakonyi, Emese

AU - Belics, Zorán

AU - Joó, József G.

AU - Csaba, Ákos

AU - Papp, C.

AU - Tóth-Pál, E.

AU - Papp, Z.

PY - 2008/2

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N2 - Objectives: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). Methods: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. Results: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). Conclusions: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

AB - Objectives: To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs). Methods: A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs. Results: The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%). Conclusions: US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.

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KW - Chromosome abnormality

KW - Genetic amniocentesis

KW - Karyotyping

KW - Ultrasound

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