Az ultrahangvizsgálat szerepe a Turnersyndroma praenatalis diagnosztikájában (69 eset tapasztalatai)

Translated title of the contribution: Role of ultrasonography in the prenatal diagnosis of Turner's syndrome. Experiences with 69 cases

Papp Csaba, Hajdú Júlia, Beke Artúr, Bá n. Zoltán, Szigeti Zsanett, Tóth Pál Erno, Csaba Ákos, Joó József Gábor, Mezei Gábor, Papp Zoltán

Research output: Contribution to journalArticle

Abstract

"The study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimester of pregnancy. Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analized. Of the 514 (2.3%, 514/22,150) shromosome aberrations that were diagnosed, 69 Turner's syndrome cases were found (13.4%, 69/514)". Twenty-four fetuses had 45,X karyotype (34.8%), while 45 cases were mosaic (65.2%). Forty-seven fetuses (68.1%, 47/69) presented symptoms on sonography. A substantial proportion of Turner syndrome fetuses showed early onset signs detectable already in the first trimester (29.8%,14/69). The most common findings on sonography were hygroma colli (26.1%, 18/69), fetal hydrops (11.6%, 8/69), cardiac defects (13%, 9/69) and increased nuchal translucency (13%, 9/69). Among the heart defects coarctation of the aorta was the most common (in 44.4% of all cardial defects. Soft markers were also detected with relatively high frequency (23.2%, 16/69). The diagnosis of severe Turner's syndrome is possible in early pregnancy, while looking for soft markers during second trimester sonography and extensive use of echocardiography may increase the detection rate of Turner's syndrome.

Original languageHungarian
Pages (from-to)37-43
Number of pages7
JournalMagyar Noorvosok Lapja
Volume70
Issue number1
Publication statusPublished - 2007

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Turner Syndrome
Prenatal Diagnosis
Ultrasonography
Fetus
Second Pregnancy Trimester
First Pregnancy Trimester
Nuchal Translucency Measurement
Cystic Lymphangioma
Hydrops Fetalis
Karyotyping
Pregnancy
Aortic Coarctation
Karyotype
Echocardiography

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Az ultrahangvizsgálat szerepe a Turnersyndroma praenatalis diagnosztikájában (69 eset tapasztalatai). / Csaba, Papp; Júlia, Hajdú; Artúr, Beke; Zoltán, Bá n.; Zsanett, Szigeti; Erno, Tóth Pál; Ákos, Csaba; Gábor, Joó József; Gábor, Mezei; Zoltán, Papp.

In: Magyar Noorvosok Lapja, Vol. 70, No. 1, 2007, p. 37-43.

Research output: Contribution to journalArticle

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abstract = "{"}The study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimester of pregnancy. Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analized. Of the 514 (2.3{\%}, 514/22,150) shromosome aberrations that were diagnosed, 69 Turner's syndrome cases were found (13.4{\%}, 69/514){"}. Twenty-four fetuses had 45,X karyotype (34.8{\%}), while 45 cases were mosaic (65.2{\%}). Forty-seven fetuses (68.1{\%}, 47/69) presented symptoms on sonography. A substantial proportion of Turner syndrome fetuses showed early onset signs detectable already in the first trimester (29.8{\%},14/69). The most common findings on sonography were hygroma colli (26.1{\%}, 18/69), fetal hydrops (11.6{\%}, 8/69), cardiac defects (13{\%}, 9/69) and increased nuchal translucency (13{\%}, 9/69). Among the heart defects coarctation of the aorta was the most common (in 44.4{\%} of all cardial defects. Soft markers were also detected with relatively high frequency (23.2{\%}, 16/69). The diagnosis of severe Turner's syndrome is possible in early pregnancy, while looking for soft markers during second trimester sonography and extensive use of echocardiography may increase the detection rate of Turner's syndrome.",
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