Prenatal testing [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Jan 09, 2020

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• The impact of invasive prenatal testing on anxiety and sleep quality in pregnant women with a screen-positive result for aneuploidy.
  Akbas Murat et al. Journal of psychosomatic obstetrics and gynaecology 2020 Jan 1-7
• The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
  KG Monaghan et al. Genetics in Medicine, January 8, 2020
• Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy.
  Benn Peter et al. Journal of genetic counseling 2019 Dec
• [Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening].
  Yang Xingkun et al. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2019 Nov 39(11) 1350-1356
• Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
  Liu Jialiu et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Dec
• Fetal fraction and noninvasive prenatal testing: What clinicians need to know.
  Hui Lisa et al. Prenatal diagnosis 2019 Dec
• Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
  Grelet Maude et al. Orphanet journal of rare diseases 2019 Dec 14(1) 288
• Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
  Koumbaris George et al. Molecular cytogenetics 2019 1248
• Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.
  Zhang Wei et al. PloS one 2019 14(12) e0225281
• Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
  Togneri Fiona S et al. Genetics research 2019 Dec 101e11

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