1. Amniocentesis Performed for Karyotyping after Identified Ultrasonographic Abnormalities: What to Expect?
- Author
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Fanny Lewin, Aziza Lebbar, Agnès Choiset, Vassili Tsatsaris, Patrice Gaudry, Emmanuelle Pannier, Maxime Esvan, Gilles Grangé, and Jean-Baptiste Meynard
- Subjects
Adult ,Embryology ,medicine.medical_specialty ,Population ,Intrauterine growth restriction ,Chromosome Disorders ,Prenatal diagnosis ,Ultrasonography, Prenatal ,Cohort Studies ,Predictive Value of Tests ,Pregnancy ,Prevalence ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,education ,Retrospective Studies ,Chromosome Aberrations ,education.field_of_study ,medicine.diagnostic_test ,Obstetrics ,business.industry ,Obstetrics and Gynecology ,Retrospective cohort study ,General Medicine ,medicine.disease ,Karyotyping ,Predictive value of tests ,Multivariate Analysis ,Pediatrics, Perinatology and Child Health ,Amniocentesis ,Female ,business ,Cohort study - Abstract
Objectives: The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis. Methods: A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities. Results: Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1). Conclusions: Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.
- Published
- 2011
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