Objective: To determine whether non-invasive prenatal testing is an alternative testing option to preimplantation genetic testing (PGT) in pregnant patients.
Methods: This was a retrospective study of the clinical outcomes of patients who underwent PGT and invasive or non-invasive pregnancy testing after euploid blastocyst transfer at our IVF centre between January 2017 and December 2022.
Results: In total, 321 patients were enrolled in this study, 138 (43.0%) received invasive pregnancy testing, and 183 (57.0%) patients underwent non-invasive testing. The mean age of the patients in Group 2 was higher than that of the patients in Group 1 (35.64 ± 4.74 vs. 31.04 ± 4.15 years, P < 0.001). The basal LH and AMH levels were higher in Group 1 than in Group 2 (4.30 ± 2.68 vs. 3.40 ± 1.88, P = 0.003; 5.55 ± 11.22 vs. 4.09 ± 3.55, P = 0.012), but the clinical outcomes were not significantly different. Furthermore, the clinical outcomes of patients undergoing invasive testing were similar to those of patients undergoing non-invasive testing with the same PGT indication.
Conclusion: Our results suggest that non-invasive pregnancy testing is a suitable alternative option for detecting the foetal chromosomal status in a PGT cycle. However, the usefulness of non-invasive testing in PGT-M patients is still limited.
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http://dx.doi.org/10.1186/s12884-024-06284-7 | DOI Listing |
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, SE-751 85, Sweden.
Background: Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data.
View Article and Find Full Text PDFSTAR Protoc
January 2025
BGI Research, Shenzhen 518083, China; Shenzhen Key Laboratory of Transomics Biotechnologies, BGI Research, Shenzhen 518083, China. Electronic address:
Non-invasive prenatal testing (NIPT) not only enables the detection of chromosomal anomalies in fetuses but also generates vast amounts of ultra-low-depth sequencing data, which can be leveraged for population genomic studies. Here, we present a protocol designed for massive ultra-low-depth sequencing datasets. We detail the steps for data processing, quality control, and genotype imputation, followed by genome-wide association study (GWAS) and post-GWAS analyses.
View Article and Find Full Text PDFAppl Health Econ Health Policy
January 2025
Menzies Centre for Health Policy and Economics, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia.
Background: Non-invasive prenatal testing has the potential to be a useful genetic screening tool in Australia. However, concerns have been raised about its cost, commercial provision, the psychological impacts of the screening process, and disparities in access experienced by rural and regional communities.
Aims: The aims of this study are (1) to estimate Australian preferences for features of prenatal screening; (2) to explore potential variations in preferences between metropolitan and rural/regional communities; (3) to estimate the extent to which respondents are willing to trade-off between attributes, using willingness to pay (WTP) and willingness to wait estimates.
Chin Med J (Engl)
January 2025
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610000, China.
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