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Precision Health Database


Precision Health Database|Search|PHGKB

Last data update: Sep 28, 2023. (Total: 61657 Documents since 2012)
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Query Trace: Prenatal testing[original query]>>Original Studies[Product Type]
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting.
Julia Wynn et al. Prenat Diagn 2023
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.
J-Y Su et al. Eur Rev Med Pharmacol Sci 2023 27(15) 7101-7106
Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study.
Arushi Gahlot Saini et al. J Trop Pediatr 2023 69(4)
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.
Weifang Tian et al. Eur J Med Res 2023 28(1) 304
Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.
Leila Jamal et al. J Genet Couns 2023
The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California
MT Nguyen et al, Genet in Med Open, September 2023
The effect of resolution level and targeted design in the diagnostic performance of prenatal chromosomal microarray analysis.
Elena Papageorgiou et al. Fetal Diagn Ther 2023
Preconception education program for non-invasive prenatal testing focused on interest in genetics among female university students in Japan: a quasi-experimental study comparing pre-intervention, post-intervention, and three-month follow-up results.
Chihiro Katada et al. Arch Public Health 2023 81(1) 138
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.
Erica Soster et al. Mol Cytogenet 2023 16(1) 10
The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy.
Yichao Wang et al. Discov Med 2023 35(176) 353-360
Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.
Xiying Yuan et al. BMC Pregnancy Childbirth 2023 23(1) 351
Evaluation of pre-test counselling offered for non-invasive prenatal testing (NIPT) as a primary screening tool.
Ho Yin Diana Lee et al. J Obstet Gynaecol 2023 43(1) 2204959
Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities.
Chelsea Stevens et al. J Genet Couns 2023
Western Australian women's expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions.
Sarah Long et al. J Genet Couns
Prenatal karyotype results from 2169 invasive tests.
Hanna Moczulska et al. Ginekologia polska 2023
Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.
Matthew L Saidel et al. Journal of clinical laboratory analysis 2023 e24870
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann et al, EJHG, March 20, 2023
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners.
Alison C Kay et al. Journal of medical genetics 2023
Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.
Jiexia Yang et al. Journal of assisted reproduction and genetics 2023
Decision-making process about prenatal genetic screening: how deeply do moms-to-be want to know from Non-Invasive Prenatal Testing?
Oliveri Serena et al. BMC pregnancy and childbirth 2023 23(1) 38
Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multi-center observational study of 1,854,148 women in China.
Xiang Liangcheng et al. Prenatal diagnosis 2023
Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
Tromp Tycho R et al. Journal of clinical lipidology 2023
A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing.
Hui Lisa et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022
Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
Huang Quanfei et al. Journal of clinical laboratory analysis 2022 e24827
Combined Model-Based Prediction for Non-Invasive Prenatal Screening.
Yang So-Yun et al. International journal of molecular sciences 2022 23(23)
Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.
Zhang Suhua et al. PeerJ 2022 10e14400
Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT).
Lee Junnam et al. Frontiers in genetics 2022 13999587
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program
KRM van der Meij et al, EJHG, December 9, 2022
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile.
Zhang Min et al. Journal of translational medicine 2022 20(1) 536
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