Related Experiment Video
Updated: Aug 14, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Expectation and knowledge of women undergoing first-trimester combined screening for Down syndrome in a Chinese
Lin Wai Chan1, Mo Ching Macy Chau, Tak Yeung Leung
1Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong SAR. danielchan@cuhk.edu.hk
Objectives:
To study the preference of pregnant women regarding the time taken to report the results of first-trimester combined screening for Down syndrome and their knowledge about it.
Methods:
A questionnaire survey was conducted on a cohort of 325 pregnant participants who attended our first-trimester combined nuchal translucency and biochemical screening programme for fetal Down syndrome. This service was operated in a one-stop setting and the result of the screening test was available within 1 to 2 h after the collection of blood sample.
Results:
The majority of participants: (1) could recall the quoted detection rate correctly (96.6%); (2) understood that a negative test does not exclude Down syndrome (91.1%); (3) understood that a positive test does not equate to an affected fetus (91.0%), and (4) could decide on the need for further invasive tests on the basis of the screening test results (98.1%). Twenty-nine percent of participants considered that a one-stop setting was very important because any delay in releasing the results made a significant difference to them, while 48.9% considered it acceptable if the results were available on the same day. The percentage dropped dramatically to 6.3% (within 2 days), 6.7% (within 3 days), 5.7% (within 1 week), and 3.1% (more than 1 week).
Conclusion:
The majority of the pregnant women in our test considered same day reporting of screening test results to be no different from a one-stop clinic. This would have important implications for the organisation and structuring of our service provision, since the operation of a one-stop clinic imposes significant stresses on the clinical staff involved.
More Related Videos
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
12:32Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Related Concept Videos
Meiosis vs. Mitosis
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Karyotyping
Meiosis I