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Updated: May 26, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?
Patrice Gaudry1, Maxime Esvan, Jean-Baptiste Meynard
1Department of Obstetrics and Gynecology, Hôpital d'Instruction des Armées Begin, Saint-Mandé, France. patrice.gaudry@laposte.net
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.
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Procedure:
This diagnostic tool allows the clinician to visually inspect internal structures within the abdomen, including vital organs such as the liver, gallbladder, pancreas, kidneys, and spleen.
The abdominal ultrasound process begins with applying a special gel to the patient's skin over the abdomen. This gel enhances the...
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