A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Shuo ZhangXiaoxi Sun

Abstract

The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies. Sonographic abnormalities were stratified according to anatomic system involvement. A total of 238 abnormal karyotypes were encountered in the 5328 fetuses (4.5%). The highest rate of chromosomal anomalies was in fetuses with structural abnormalities in multiple organ systems (25.7%), followed by an abnormal amniotic fluid volume (7.9%), structural abnormalities in a single system (7.3%), multiple nonstructural anomalies (7.2%), isolated placental abnormalities (7.1%), and isolated soft markers for aneuploidy (2.4%; P < .01). Among abnormalities in a single system, gastrointestinal and neck/body fluids had particularly high detection rates (26.1% and 26.2%, respectively). A detailed analysis suggested that the probability of an abnormal karyotype among every anatomic system ...Continue Reading

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Citations

Jan 9, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kristin G MonaghanUNKNOWN ACMG Professional Practice and Guidelines Committee
Oct 29, 2021·American Journal of Perinatology·Sharla RentMargarita Bidegain

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