Ultrasonographic findings of fetal aneuploidies in the second trimester - Our experiences

C. Papp, Zsanett Szigeti, E. Tóth-Pál, J. Hajdú, József Gábor Joó, Z. Papp

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Objectives: The aim of this study was to determine the incidence of ultrasound findings in common fetal chromosomal defects on a relatively large series coming out from one institution. We also tried to evaluate possible clusters of ultrasound signs of major chromosomal defects. Methods: Of the 22,150 fetal karyotypings, 514 abnormal karyotypes (2.3%) were diagnosed prenatally between 1990 and 2004. Of them, 374 were further evaluated for abnormal ultrasound signs in this study. These represented the major chromosomal defects of Down syndrome (n = 207), trisomy 18 (n = 70), trisomy 13 (n = 28) and Turner syndrome (n = 69). Results: The incidences of major structural defects and minor anomalies were evaluated then sonographic signs with the highest incidences were established in each of the major chromosomal defects. In fetuses with trisomy 13, besides cardiac defects, the most frequently seen structural abnormalities were central nervous system anomalies and facial anomalies. In fetuses with trisomy 18 and trisomy 21, cardiac anomalies were the most common structural sonographic features, whereas the most common findings were hygroma colli and fetal hydrops in fetuses with Turner syndrome. As far as minor anomalies are concerned, increased nuchal fold was the most predictive marker of each major aneuploidy. Choroid plexus cysts were more common in trisomy 18, whereas echogenic intracardiac foci were more frequently detected in fetuses with trisomy 13 and trisomy 21. Conclusion: This study may help to select the most predictive components of the genetic sonogram which may assist the counseling of women for the actual risk of the major chromosomal abnormalities.

Original languageEnglish
Pages (from-to)105-113
Number of pages9
JournalFetal Diagnosis and Therapy
Volume23
Issue number2
DOIs
Publication statusPublished - Feb 2008

Fingerprint

Second Pregnancy Trimester
Aneuploidy
Fetus
Down Syndrome
Turner Syndrome
Incidence
Nuchal Translucency Measurement
Nervous System Malformations
Abnormal Karyotype
Cystic Lymphangioma
Hydrops Fetalis
Karyotyping
Choroid Plexus
Chromosome Aberrations
Cysts
Counseling
Central Nervous System
Trisomy 13 syndrome
Trisomy 18

Keywords

  • Fetal aneuploidies
  • Prenatal diagnosis
  • Sonography

ASJC Scopus subject areas

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

Cite this

Ultrasonographic findings of fetal aneuploidies in the second trimester - Our experiences. / Papp, C.; Szigeti, Zsanett; Tóth-Pál, E.; Hajdú, J.; Joó, József Gábor; Papp, Z.

In: Fetal Diagnosis and Therapy, Vol. 23, No. 2, 02.2008, p. 105-113.

Research output: Contribution to journalArticle

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