Literature DB >> 18417976

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

Artúr Beke1, Emese Barakonyi, Zorán Belics, József G Joó, Akos Csaba, Csaba Papp, Erno Tóth-Pál, Zoltán Papp.   

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. Copyright 2008 S. Karger AG, Basel.

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Mesh:

Year:  2008        PMID: 18417976     DOI: 10.1159/000116739

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  5 in total

Review 1.  First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

Review 2.  First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2017-03-15

3.  Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review.

Authors:  Hyun Sun Ko; Dong Wook Kwak; Soo-Young Oh; Sae Kyung Choi; Joon Seok Hong; Han Sung Hwang; Hyun Soo Park; Hyun-Joo Seol; Moon Young Kim; Sa Jin Kim; Joong Shin Park
Journal:  Obstet Gynecol Sci       Date:  2022-02-21

Review 4.  First trimester serum tests for Down's syndrome screening.

Authors:  S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic
Journal:  Cochrane Database Syst Rev       Date:  2015-11-30

Review 5.  The trisomy 18 syndrome.

Authors:  Anna Cereda; John C Carey
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123

  5 in total

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