Chromosoma-rendellenességek elöfordulása magzati subcutan oedemával járó elváltozások tarkótáji oedema, cysticus hygroma és non-immun hydrops - Esetén

Translated title of the contribution: Risk of chromosomal abnormalities in the presence of fetal subcutaneous oedema, nuchal translucency, nuchal thickening, Cystic hygroma and nonimmune hydrops

A. Beke, Joó József Gábor, Belies Zorán, Csaba Ákos, C. Papp, J. Rigó

Research output: Contribution to journalArticle

Abstract

The authors investigated the incidence of chromosomal abnormalities in cases where subcutaneous oedema was detected in the fetus by intrauterine ultrasonography. Intrauterine karyotyping in case of fetal subcutaneous oedema was carried out in 434 cases. Chromosomal investigation was performed for nuchal oedema in 374 cases. In 120 patients the chromosomal examination was carried out in the first-trimester following nuchal translucency examinations, and in 254 cases in the second-trimester after detection of nuchal thickening. Cystic hygroma (27 patients), nonimmune hydrops (20 patients), and combination of nonimmune hydrops and cystic hygroma (13 patients) cases were investigated separately. In cases of nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51 % in the second trimester. Chromosomal abnormalities were found in 48.15%, 20%, and 53.8% in cases of cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all the changes that were accompanied by subcutaneous oedema, 50%, 25% and 18.75% of the pamological karyotypes were X monosomy, trisomy 18 and trisomy 21, respectively. The authors emphasize the differentiation between the various types of subcutaneous oedema and the importance of obtaining precise information about the risks, provided during genetic counselling.

Original languageHungarian
Pages (from-to)301-308
Number of pages8
JournalMagyar Noorvosok Lapja
Volume72
Issue number6
Publication statusPublished - 2009

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Nuchal Translucency Measurement
Cystic Lymphangioma
Hydrops Fetalis
Chromosome Aberrations
Edema
Second Pregnancy Trimester
First Pregnancy Trimester
Karyotype
Karyotyping
Turner Syndrome
Genetic Counseling
Down Syndrome
Ultrasonography
Fetus

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Reproductive Medicine

Cite this

Chromosoma-rendellenességek elöfordulása magzati subcutan oedemával járó elváltozások tarkótáji oedema, cysticus hygroma és non-immun hydrops - Esetén. / Beke, A.; Gábor, Joó József; Zorán, Belies; Ákos, Csaba; Papp, C.; Rigó, J.

In: Magyar Noorvosok Lapja, Vol. 72, No. 6, 2009, p. 301-308.

Research output: Contribution to journalArticle

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abstract = "The authors investigated the incidence of chromosomal abnormalities in cases where subcutaneous oedema was detected in the fetus by intrauterine ultrasonography. Intrauterine karyotyping in case of fetal subcutaneous oedema was carried out in 434 cases. Chromosomal investigation was performed for nuchal oedema in 374 cases. In 120 patients the chromosomal examination was carried out in the first-trimester following nuchal translucency examinations, and in 254 cases in the second-trimester after detection of nuchal thickening. Cystic hygroma (27 patients), nonimmune hydrops (20 patients), and combination of nonimmune hydrops and cystic hygroma (13 patients) cases were investigated separately. In cases of nuchal oedema, pathological karyotypes were detected in 8.33{\%} in the first trimester and in 5.51 {\%} in the second trimester. Chromosomal abnormalities were found in 48.15{\%}, 20{\%}, and 53.8{\%} in cases of cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all the changes that were accompanied by subcutaneous oedema, 50{\%}, 25{\%} and 18.75{\%} of the pamological karyotypes were X monosomy, trisomy 18 and trisomy 21, respectively. The authors emphasize the differentiation between the various types of subcutaneous oedema and the importance of obtaining precise information about the risks, provided during genetic counselling.",
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AU - Beke, A.

AU - Gábor, Joó József

AU - Zorán, Belies

AU - Ákos, Csaba

AU - Papp, C.

AU - Rigó, J.

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N2 - The authors investigated the incidence of chromosomal abnormalities in cases where subcutaneous oedema was detected in the fetus by intrauterine ultrasonography. Intrauterine karyotyping in case of fetal subcutaneous oedema was carried out in 434 cases. Chromosomal investigation was performed for nuchal oedema in 374 cases. In 120 patients the chromosomal examination was carried out in the first-trimester following nuchal translucency examinations, and in 254 cases in the second-trimester after detection of nuchal thickening. Cystic hygroma (27 patients), nonimmune hydrops (20 patients), and combination of nonimmune hydrops and cystic hygroma (13 patients) cases were investigated separately. In cases of nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51 % in the second trimester. Chromosomal abnormalities were found in 48.15%, 20%, and 53.8% in cases of cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all the changes that were accompanied by subcutaneous oedema, 50%, 25% and 18.75% of the pamological karyotypes were X monosomy, trisomy 18 and trisomy 21, respectively. The authors emphasize the differentiation between the various types of subcutaneous oedema and the importance of obtaining precise information about the risks, provided during genetic counselling.

AB - The authors investigated the incidence of chromosomal abnormalities in cases where subcutaneous oedema was detected in the fetus by intrauterine ultrasonography. Intrauterine karyotyping in case of fetal subcutaneous oedema was carried out in 434 cases. Chromosomal investigation was performed for nuchal oedema in 374 cases. In 120 patients the chromosomal examination was carried out in the first-trimester following nuchal translucency examinations, and in 254 cases in the second-trimester after detection of nuchal thickening. Cystic hygroma (27 patients), nonimmune hydrops (20 patients), and combination of nonimmune hydrops and cystic hygroma (13 patients) cases were investigated separately. In cases of nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51 % in the second trimester. Chromosomal abnormalities were found in 48.15%, 20%, and 53.8% in cases of cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all the changes that were accompanied by subcutaneous oedema, 50%, 25% and 18.75% of the pamological karyotypes were X monosomy, trisomy 18 and trisomy 21, respectively. The authors emphasize the differentiation between the various types of subcutaneous oedema and the importance of obtaining precise information about the risks, provided during genetic counselling.

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KW - Chorionic villi sampling

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KW - Karyotyping

KW - Non-immune hydrops

KW - Nuchal thickening

KW - Nuchal translucency

KW - Subcutaneous oedema

KW - Ultrasound anomalies

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