A 13-as triszómia praenatalis diagnosztikája

28 Eset elemzése

Translated title of the contribution: Prenatal diagnosis of trisomy 13: A report on 28 cases

C. Papp, J. Hajdú, A. Beke, Z. Bán, Zsanett Szigeti, E. Tóth-Pál, Ákos Csaba, József Gábor Joó, Gábor Mezei, Z. Papp

Research output: Contribution to journalArticle

Abstract

The authors have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 13. Out of the 22.150 fetal chromosomal-analyses, 28 fetuses with trisomy 13 have been detected, between 1990 and 2004. Ultrasonographic findings of this aneuploidy are analysed in this paper. The avarege maternal age was 32.4 years, the average gestational age was 19.5 weeks. There was an 89.3% (n=25) total prevalence of sonographically detectable anomalies in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), while minor anomalies were detected in 16 cases (57.1%). Although in two fetuses one minor anomaly was the only ultrasound sign of trisomy 13, other cases with minor anomalies (87.5%, n=14) had multiple malformations, where combinations of major and minor anomalies could be detected. The most frequently encountered structural abnormalities were those of the central nervous system (CNS) and facial anomalies (64.3%, n=18). Among the CNS malformations ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular defects were detected in 53.6% (n=15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in the diagnosis of this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. The authors conclude, that second trimester ultrasound examination is useful for detection of anomalies characteristic of trisomy 13, thus the scan could provide an indication for fetal karyotyping. Upon incorporating a careful assessment of the fetal cardiovascular system by ultrasonography, an increased detection rate for trisomy 13 would result.

Original languageHungarian
Pages (from-to)555-561
Number of pages7
JournalMagyar Noorvosok Lapja
Volume69
Issue number6
Publication statusPublished - 2006

Fingerprint

Prenatal Diagnosis
Fetus
Nervous System Malformations
Second Pregnancy Trimester
Aneuploidy
Echogenic Bowel
Central Nervous System
Holoprosencephaly
Nuchal Translucency Measurement
Karyotyping
Maternal Age
Cardiovascular System
Trisomy 13 syndrome
Gestational Age
Echocardiography
Ultrasonography

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

A 13-as triszómia praenatalis diagnosztikája : 28 Eset elemzése. / Papp, C.; Hajdú, J.; Beke, A.; Bán, Z.; Szigeti, Zsanett; Tóth-Pál, E.; Csaba, Ákos; Joó, József Gábor; Mezei, Gábor; Papp, Z.

In: Magyar Noorvosok Lapja, Vol. 69, No. 6, 2006, p. 555-561.

Research output: Contribution to journalArticle

Papp, C. ; Hajdú, J. ; Beke, A. ; Bán, Z. ; Szigeti, Zsanett ; Tóth-Pál, E. ; Csaba, Ákos ; Joó, József Gábor ; Mezei, Gábor ; Papp, Z. / A 13-as triszómia praenatalis diagnosztikája : 28 Eset elemzése. In: Magyar Noorvosok Lapja. 2006 ; Vol. 69, No. 6. pp. 555-561.
@article{5f899918b6954e138c19f263091643b8,
title = "A 13-as trisz{\'o}mia praenatalis diagnosztik{\'a}ja: 28 Eset elemz{\'e}se",
abstract = "The authors have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 13. Out of the 22.150 fetal chromosomal-analyses, 28 fetuses with trisomy 13 have been detected, between 1990 and 2004. Ultrasonographic findings of this aneuploidy are analysed in this paper. The avarege maternal age was 32.4 years, the average gestational age was 19.5 weeks. There was an 89.3{\%} (n=25) total prevalence of sonographically detectable anomalies in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1{\%}), while minor anomalies were detected in 16 cases (57.1{\%}). Although in two fetuses one minor anomaly was the only ultrasound sign of trisomy 13, other cases with minor anomalies (87.5{\%}, n=14) had multiple malformations, where combinations of major and minor anomalies could be detected. The most frequently encountered structural abnormalities were those of the central nervous system (CNS) and facial anomalies (64.3{\%}, n=18). Among the CNS malformations ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular defects were detected in 53.6{\%} (n=15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in the diagnosis of this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4{\%}) and echogenic bowel (17.9{\%}) were the most common findings. The authors conclude, that second trimester ultrasound examination is useful for detection of anomalies characteristic of trisomy 13, thus the scan could provide an indication for fetal karyotyping. Upon incorporating a careful assessment of the fetal cardiovascular system by ultrasonography, an increased detection rate for trisomy 13 would result.",
keywords = "Echocardiography, Prenatal sonography, Trisomy 13",
author = "C. Papp and J. Hajd{\'u} and A. Beke and Z. B{\'a}n and Zsanett Szigeti and E. T{\'o}th-P{\'a}l and {\'A}kos Csaba and Jo{\'o}, {J{\'o}zsef G{\'a}bor} and G{\'a}bor Mezei and Z. Papp",
year = "2006",
language = "Hungarian",
volume = "69",
pages = "555--561",
journal = "Magyar Noorvosok Lapja",
issn = "0025-021X",
publisher = "Magyar Noovos Tarsasag",
number = "6",

}

TY - JOUR

T1 - A 13-as triszómia praenatalis diagnosztikája

T2 - 28 Eset elemzése

AU - Papp, C.

AU - Hajdú, J.

AU - Beke, A.

AU - Bán, Z.

AU - Szigeti, Zsanett

AU - Tóth-Pál, E.

AU - Csaba, Ákos

AU - Joó, József Gábor

AU - Mezei, Gábor

AU - Papp, Z.

PY - 2006

Y1 - 2006

N2 - The authors have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 13. Out of the 22.150 fetal chromosomal-analyses, 28 fetuses with trisomy 13 have been detected, between 1990 and 2004. Ultrasonographic findings of this aneuploidy are analysed in this paper. The avarege maternal age was 32.4 years, the average gestational age was 19.5 weeks. There was an 89.3% (n=25) total prevalence of sonographically detectable anomalies in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), while minor anomalies were detected in 16 cases (57.1%). Although in two fetuses one minor anomaly was the only ultrasound sign of trisomy 13, other cases with minor anomalies (87.5%, n=14) had multiple malformations, where combinations of major and minor anomalies could be detected. The most frequently encountered structural abnormalities were those of the central nervous system (CNS) and facial anomalies (64.3%, n=18). Among the CNS malformations ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular defects were detected in 53.6% (n=15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in the diagnosis of this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. The authors conclude, that second trimester ultrasound examination is useful for detection of anomalies characteristic of trisomy 13, thus the scan could provide an indication for fetal karyotyping. Upon incorporating a careful assessment of the fetal cardiovascular system by ultrasonography, an increased detection rate for trisomy 13 would result.

AB - The authors have investigated the role of second trimester ultrasound examination in the prenatal diagnosis of trisomy 13. Out of the 22.150 fetal chromosomal-analyses, 28 fetuses with trisomy 13 have been detected, between 1990 and 2004. Ultrasonographic findings of this aneuploidy are analysed in this paper. The avarege maternal age was 32.4 years, the average gestational age was 19.5 weeks. There was an 89.3% (n=25) total prevalence of sonographically detectable anomalies in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), while minor anomalies were detected in 16 cases (57.1%). Although in two fetuses one minor anomaly was the only ultrasound sign of trisomy 13, other cases with minor anomalies (87.5%, n=14) had multiple malformations, where combinations of major and minor anomalies could be detected. The most frequently encountered structural abnormalities were those of the central nervous system (CNS) and facial anomalies (64.3%, n=18). Among the CNS malformations ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular defects were detected in 53.6% (n=15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in the diagnosis of this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. The authors conclude, that second trimester ultrasound examination is useful for detection of anomalies characteristic of trisomy 13, thus the scan could provide an indication for fetal karyotyping. Upon incorporating a careful assessment of the fetal cardiovascular system by ultrasonography, an increased detection rate for trisomy 13 would result.

KW - Echocardiography

KW - Prenatal sonography

KW - Trisomy 13

UR - http://www.scopus.com/inward/record.url?scp=33846126232&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33846126232&partnerID=8YFLogxK

M3 - Article

VL - 69

SP - 555

EP - 561

JO - Magyar Noorvosok Lapja

JF - Magyar Noorvosok Lapja

SN - 0025-021X

IS - 6

ER -