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Last Posted: May 23, 2024

• Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.
  Molly Johnston et al. BMC Pregnancy Childbirth 2024 24(1) 355
• Prevalence threshold and positive predictive value of noninvasive prenatal testing.
  Aditi Sivakumar et al. Int J Gynaecol Obstet 2024
• Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
  
• Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.
  Miruna Gug et al. J Pers Med 2024 14(4)
• Understanding the Awareness of Prenatal Genetic Screening Tests Among Pregnant Women in India: A Cross-Sectional Study.
  Sangeetha Arumugam et al. Cureus 2024 16(3) e56932
• Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.
  Erica Soster et al. Mol Cytogenet 2024 17(1) 9
• Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
  E Wall et al. Ultrasound Obstet Gynecol 2024
• Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
  Enrica Marchionni et al. Eur J Hum Genet 2024 3
• Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
  Nchangwi Syntia Munung et al. Eur J Hum Genet 2024
• Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States.
  Shameka P Thomas et al. AJOB Empir Bioeth 2024 1-10
• Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis.
  et al. Nat Med 2024 2
• Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.
  Hyunjin Kim et al. BMC Pregnancy Childbirth 2024 24(1) 93
• The detection efficacy of noninvasive prenatal genetic testing (NIPT) for sex chromosome abnormalities and copy number variation and its differentiation in pregnant women of different ages.
  Yimei Li et al. Heliyon 2024 10(2) e24155
• Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
  Changhong Wang et al. Mol Genet Genomic Med 2024 12(1) e2352
• Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
  Joie O Olayiwola et al. Mol Genet Genomic Med 2024 e2349
• Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
  Jinglan Zhang et al. Nat Med 2024 1
• Challenges experienced by genetic counselors while they provided counseling about mosaic embryos.
  Olivia M Moran et al. F S Rep 2024 4(4) 353-360
• Prenatal Genetic Testing Is Rapidly Evolving. Here’s Why That Matters.
  M Holmes, Huffington Post, January 12, 2024
• Perceptions and Attitudes Toward Genetic Counselors and Genetic Testing Among Certified Professional Midwives in Vermont: A Modified Grounded Theory Study.
  Jazmine L Gabriel et al. Qual Health Res 2023 10497323231222395
• Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study.
  Iris M Bakkeren et al. Eur J Hum Genet 2023
• Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.
  Irina Ioana Iordanescu et al. Front Genet 2023 141258752
• Non-invasive prenatal testing: a revolutionary journey in prenatal testing.
  Malak Abedalthagafi et al. Front Med (Lausanne) 2023 101265090
• Prenatal aneuploidy screening and its impact on stillbirth etiology evaluation.
  Gianna L Wilkie et al. Minerva Obstet Gynecol 2023
• A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
  Wei Luo et al. BMC Pregnancy Childbirth 2023 23(1) 791
• Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.
  Adeline Perrot et al. J Genet Couns 2023
• Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.
  Abraham Fessehaye Sium et al. PLoS One 2023 18(11) e0294409
• Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing.
  Lilla Botos et al. Mol Cell Probes 2023 101942
• Understanding knowledge, perception, and willingness of non-invasive prenatal testing for fetal aneuploidy: a survey among Chinese high-risk pregnant women.
  Yi Zhao et al. Front Med (Lausanne) 2023 101232942
• Prevalence of high-penetrant copy number variants in 7,734 low-risk pregnancies.
  Lena Sagi-Dain et al. Am J Obstet Gynecol MFM 2023 101201
• Women's experiences with non-invasive prenatal testing in Switzerland: a qualitative analysis.
  Mirriam Tyebally Fang et al. BMC Med Ethics 2023 24(1) 85
• Ready or not, genomic screening of fetuses is already here
  NB Gold et al, Genetics in Medicine, October 17, 2023
• Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization.
  Rong Wei et al. Mol Cytogenet 2023 16(1) 25
• Genetic literacy and attitude towards genetic testing in patients with Parkinson's disease and their caregivers: A review of literature.
  Sneha D Kamath et al. Parkinsonism Relat Disord 2023 105853
• 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
• 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
• 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)
• 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
• Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.
  Leila Jamal et al. J Genet Couns 2023
• Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
  Siva Shantini Jayashankar et al. Diagnostics (Basel) 2023 13(15)
• 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
• Screening during IVF for inherited diseases can greatly reduce costs of care
  L Flynn, MedicalXpress, July 2023
• Prenatal testing for imprinting disorders: A laboratory perspective.
  Jasmin Beygo et al. Prenat Diagn 2023
• 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
• A call for public funding of invasive and non-invasive prenatal testing.
  Idit Maya et al. J Perinat Med 2023
• 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

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