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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
A simple nomogram tool for predicting fetal chromosomal abnormalities based on ultrasound soft markers: a research
Chen Jin1, Xuefei Yu2, Ming Lei3
1Department of Prenatal Diagnosis, Jilin Hospital of Women's Hospital, School of Medicine, Zhejiang University (Changchun Obstetrics-Gynecology Hospital), No.555 West Fifth Road, Nanguan District, Changchun, Jilin, China. jinchen0519@outlook.com.
Objectives:
Ultrasound soft markers (USMs) are associated with increased risk of fetal chromosomal abnormalities but lack standardized risk assessment methods, often leading to unnecessary amniocentesis procedures. We aimed to develop a practical nomogram tool to quantify this risk and help clinicians make more objective decisions about invasive testing, particularly in resource-limited settings.
Results:
We retrospectively analyzed 565 pregnancies with USMs who underwent amniocentesis between 2016 and 2024. Our nomogram integrated six readily available clinical factors: maternal age, thickened nuchal translucency, adverse pregnancy history, structural malformations, fetal growth restriction, and short long bones. The tool demonstrated moderate discriminatory ability with an AUC of 0.738 (95% CI 0.652-0.823) in the training set and 0.647 (95% CI 0.511-0.784) in the validation set. Calibration curves confirmed good agreement between predicted and observed outcomes. Rather than discovering new associations between USMs and chromosomal abnormalities, this tool simply converts established clinical knowledge into a user-friendly format that allows clinicians to objectively assess the need for amniocentesis in clinical practice.

