Ultrasonographic Findings of Fetal Aneuploidies in the Second Trimester – Our Experiences

• Published in: Fetal diagnosis and therapy Vol. 23; no. 2; pp. 105 - 113
• Main Authors: Papp, Csaba, Szigeti, Zsanett, Tóth-Pál, Ernő, Hajdú, Júlia, Joó, József Gábor, Papp, Zoltán
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland Karger 01.02.2008; S. Karger AG
• Subjects: Aneuploidy; Biological and medical sciences; Chromosome aberrations; Chromosome Disorders - diagnostic imaging; Chromosome Disorders - epidemiology; Chromosome Disorders - genetics; Delivery. Postpartum. Lactation; Female; Fetal Diseases - diagnostic imaging; Fetal Diseases - epidemiology; Fetal Diseases - genetics; General aspects; Gynecology. Andrology. Obstetrics; Humans; Medical genetics; Medical sciences; Pregnancy; Pregnancy Trimester, Second - genetics; Retrospective Studies; Ultrasonography, Prenatal - methods; Sonography; Fetal aneuploidies; Prenatal diagnosis; Chromosomal aberration; Second trimester; Pregnancy; Medicine; Echography; Cytogenetics; Neonatology; Aneuploidy; Fetus
• DOI: 10.1159/000111588
• ISSN: 1015-3837

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.