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Updated: Jul 23, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
First Trimester Ultrasound and Aneuploidy Screening in Twins
Maeve K Hopkins1, Olivia Neumann1, Jeffrey A Kuller2
1Obstetrics & Gynecology Institute, Cleveland Clinic, Cleveland, Ohio.
Abstract:
All patients with twin pregnancy should have first trimester ultrasound and be offered screening for chromosomal aneuploidy as well as diagnostic testing. Screening for aneuploidy in twins presents unique challenges compared with singletons. Cell-free DNA screening should be considered first-line; however, this option may not be available or may have limitations in certain clinical scenarios, such as vanishing twins. If cell-free DNA screening is not available, maternal serum marker screening in conjunction with nuchal translucency assessment should be offered. Patients with positive aneuploidy screening tests or fetal structural abnormalities should be offered diagnostic testing.
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