Suchergebnisse - "PRENATAL genetic testing"

Evaluating the reliability and clinical utility of artificial intelligence in first trimester prenatal screening and noninvasive prenatal testing.

Autoren: Taşkum, İbrahim Sınacı, Selcan Sucu, Seyhun et al.

Quelle: Scientific Reports. 11/21/2025, Vol. 15 Issue 1, p1-8. 8p.

Schlagwörter: *ARTIFICIAL intelligence, *PRENATAL genetic testing, *CHATGPT, *PRENATAL diagnosis, *RELIABILITY in engineering, *RISK assessment, *DECISION support systems, *TREATMENT effectiveness

Clinical and economic impact of genome-wide non-invasive prenatal testing (NIPT) as a first-tier screening method compared to targeted NIPT and first-trimester combined testing: A modeling study.

Autoren: van Prooyen Schuurman, Lisanne de Koning, Harry J. Meier, Eva et al.

Quelle: PLoS Medicine. 11/5/2025, Vol. 22 Issue 11, p1-19. 19p.

Schlagwörter: *PRENATAL genetic testing, *FETAL abnormalities, *MEDICAL care costs, *COST effectiveness, *DIAGNOSIS

Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) – four-year single center experience.

Autoren: Janssens, Katleen De Rademaeker, Marjan Muys, Joke et al.

Quelle: Journal of Perinatal Medicine. Oct2025, p1. 14p. 2 Illustrations.

Schlagwörter: *PRENATAL diagnosis, *PRENATAL genetic testing, *DIAGNOSTIC examinations, *GENETIC variation, *INFANT health, *GENETIC risk score, *TREATMENT effectiveness, *ABORTION

Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.

Autoren: Makhamreh, Mona M. Chong, Mei Ling Van den Veyver, Ignatia B.

Quelle: Diagnostics (2075-4418). Oct2025, Vol. 15 Issue 20, p2579. 19p.

Schlagwörter: *PRENATAL genetic testing, *GENETIC testing, *NONINVASIVE diagnostic tests, *NUCLEOTIDE sequencing, *MOLECULAR diagnosis, *COMPARATIVE genomic hybridization

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.

Autoren: Yin, Kaili Qi, Qingwei

Quelle: Clinical Genetics. Oct2025, p1. 7p. 1 Illustration.

Schlagwörter: *PRENATAL genetic testing, *INBORN errors of metabolism, *CLINICAL decision making, *NUCLEOTIDE sequencing, *AMNIOTIC liquid, *CLINICAL chemistry, *GENETIC variation

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

Autoren: Sun, Xiangmei Ying, Yuyi Chen, Caiping et al.

Quelle: PLoS ONE. 10/8/2025, Vol. 20 Issue 10, p1-11. 11p.

Schlagwörter: *CELL-free DNA, *PRENATAL genetic testing, *TRISOMY 13 syndrome, *DOWN syndrome, *TRISOMY 18 syndrome, *REPRODUCTIVE health, *STATISTICAL accuracy

A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant.

Autoren: Mio, Catia Orsaria, Maria Franzoni, Alessandra et al.

Quelle: Clinical Case Reports. Oct2025, Vol. 13 Issue 10, p1-6. 6p.

Schlagwörter: *PRENATAL diagnosis, *PRENATAL genetic testing, *FETAL abnormalities, *GENE libraries, *GENETIC variation, *GENETIC disorders, *HUMAN abnormalities, *NUCLEOTIDE sequencing

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification.

Autoren: Bakır, Abdullatif Alay, Mustafa Tarık Tekbaş, Umut Can et al.

Quelle: Diagnostics (2075-4418). Sep2025, Vol. 15 Issue 17, p2129. 13p.

Schlagwörter: *HIGH-risk pregnancy, *PRENATAL genetic testing, *REPRODUCTIVE health, *DNA copy number variations, *DIAGNOSIS, *CHROMOSOME abnormalities, *RISK assessment, *CYTOGENETICS

Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data.

Autoren: Reilly, K. Rolnik, D. L. Allen, S. et al.

Quelle: Ultrasound in Obstetrics & Gynecology. Sep2025, Vol. 66 Issue 3, p282-289. 8p.

Schlagwörter: *PRENATAL genetic testing, *PRENATAL diagnosis, *DIAGNOSIS, *STANDARDS, *PHENOTYPES, *GENETIC disorders, *MEDICAL care surveys

Geografische Kategorien: ENGLAND

Firma/Körperschaft: GREAT Britain. National Health Service

Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.

Autoren: Zhen, Jianxin Zhang, Liting Wang, Huilin et al.

Quelle: PLoS ONE. 8/18/2025, Vol. 20 Issue 8, p1-14. 14p.

Schlagwörter: *ANEUPLOIDY, *PRENATAL genetic testing, *DIAGNOSTIC examinations, *TREATMENT effectiveness, *SENSITIVITY & specificity (Statistics), *DNA copy number variations

Geografische Kategorien: CHINA

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Autoren: Cai, Meiying Gao, Yashi Xue, Huili et al.

Quelle: Orphanet Journal of Rare Diseases. 8/13/2025, Vol. 20 Issue 1, p1-16. 16p.

Schlagwörter: *PRENATAL genetic testing, *FETAL abnormalities, *WHOLE genome sequencing, *ETIOLOGY of diseases, *DNA microarrays

Geografische Kategorien: CHINA

Assessment of readability, reliability, and quality of large language models in addressing frequently asked questions regarding prenatal screening for fetal chromosomal anomalies.

Autoren: Taşkum, İbrahim Sınacı, Selcan Aslan, Ferhat et al.

Quelle: International Journal of Gynecology & Obstetrics. Jul2025, p1. 10p. 4 Illustrations.

Schlagwörter: *PRENATAL genetic testing, *FETAL abnormalities, *PATIENT education, *READABILITY (Literary style), *EVALUATION methodology, *MEDICAL communication, *STATISTICAL reliability, *LANGUAGE models

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Autoren: El‐Dessouky, Sara H. Sharaf‐Eldin, Wessam E. Aboulghar, Mona M. et al.

Quelle: Clinical Genetics. Jul2025, Vol. 108 Issue 1, p33-48. 16p.

Schlagwörter: *CONGENITAL disorders, *PRENATAL genetic testing, *DIAGNOSIS, *GENETIC variation, *HUMAN abnormalities, *PHENOTYPIC plasticity, *KINSHIP, *FETAL ultrasonic imaging

Factors, pregnancy outcomes, and management associated with non-reportable results in prenatal cell-free DNA testing.

Autoren: Yin, Hailing Wang, Jue Wu, Xin et al.

Quelle: Archives of Gynecology & Obstetrics. Jul2025, Vol. 312 Issue 1, p197-205. 9p.

Schlagwörter: *PRENATAL genetic testing, *PREGNANCY outcomes, *LOGISTIC regression analysis, *CELL-free DNA, *MEDICAL sciences, *PRENATAL diagnosis

Barriers to cascade screening and prenatal testing in families with genetic haematological diseases.

Autoren: Pandharipande, Archit Radhakrishnan, Nita Verma, Shruti et al.

Quelle: Journal of Rare Diseases. 6/3/2025, Vol. 4 Issue 1, p1-5. 5p.

Schlagwörter: *BLOOD diseases, *PRENATAL genetic testing, *VON Willebrand disease, *GENETIC testing, *JOB absenteeism

Prenatal Care Shopping: Paying for Reproductive Peace of Mind in Taiwan.

Autoren: Shih, Li-Wen Roberts, Celia

Quelle: Australian Feminist Studies. Jun-Sep2025, Vol. 40 Issue 124/125, p199-217. 19p.

Schlagwörter: *PRENATAL genetic testing, *PRENATAL care, *PRENATAL diagnosis, *PEACE of mind, *PREGNANT women

Geografische Kategorien: TAIWAN

A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.

Autoren: Bacal, Vanessa Li, Angela Shapiro, Heather et al.

Quelle: PLoS ONE. 5/14/2025, Vol. 20 Issue 5, p1-42. 42p.

Schlagwörter: *PRENATAL genetic testing, *PREGNANCY outcomes, *FERTILIZATION in vitro, *EMBRYO transfer, *GENETIC testing

Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context.

Autoren: Hu, Caixia Zhai, Lulu Wang, Hailian

Quelle: Molecular Genetics & Genomic Medicine. May2025, Vol. 13 Issue 5, p1-12. 12p.

Schlagwörter: *PRENATAL genetic testing, *PEARSON correlation (Statistics), *BLOOD testing, *ATTITUDE testing, *PERIODIC health examinations

Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.

Autoren: Yin, Lizhong Wang, Jing Zhang, Bin et al.

Quelle: Fetal Diagnosis & Therapy. 2025, Vol. 52 Issue 3, p225-232. 8p.

Schlagwörter: *GENETIC counseling, *PRENATAL genetic testing, *GENETIC variation, *HEALTH outcome assessment, *GENETIC testing, *INFANT health, *CLINICAL medicine

Second trimester soft markers: still worth to be mentioned?

Autoren: Kagan, Karl Oliver Hoopmann, Markus Sonek, Jiri

Quelle: Archives of Gynecology & Obstetrics. May2025, Vol. 311 Issue 5, p1233-1240. 8p.

Schlagwörter: *DNA copy number variations, *PRENATAL genetic testing, *NASAL bone, *DOWN syndrome, *CELL-free DNA