The utility of genome‐wide cell‐free DNA screening in the prenatal diagnosis of Pallister‐Killian syndrome

To report genome‐wide cell‐free DNA (cfDNA) screening facilitating the diagnosis of Pallister‐Killian syndrome (PKS).

[1]  D. Oepkes,et al.  TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands. , 2019, American journal of human genetics.

[2]  S. Cheung,et al.  Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis , 2019, Genetics in Medicine.

[3]  F. Yu,et al.  Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes , 2019, Genetics in Medicine.

[4]  S. Thakur,et al.  Pallister‐Killian syndrome: Review of fetal phenotype , 2018, Clinical genetics.

[5]  I. Krantz,et al.  Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis , 2018, American journal of medical genetics. Part A.

[6]  V. Frisova,et al.  Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester. , 2018, Taiwanese Journal of Obstetrics & Gynecology.

[7]  H. Kayserili,et al.  Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases , 2018, Molecular Cytogenetics.

[8]  R. Chiu,et al.  Sequencing of Circulating Cell‐free DNA during Pregnancy , 2018, The New England journal of medicine.

[9]  F. Grati,et al.  Genome‐wide non‐invasive prenatal screening for all cytogenetically visible imbalances , 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[10]  D. Oepkes,et al.  Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study , 2017, Genetics in Medicine.

[11]  Sarah L. Kinnings,et al.  Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease , 2017, Science Translational Medicine.

[12]  F. Spinella,et al.  The clinical utility of genome‐wide non invasive prenatal screening , 2017, Prenatal diagnosis.

[13]  K. Choy,et al.  Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations. , 2017, Clinical chemistry.

[14]  V. Plagnol,et al.  Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. , 2016, American journal of human genetics.

[15]  Aileen Clarke,et al.  Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis , 2016, BMJ Open.

[16]  I. Krantz,et al.  Pallister–Killian syndrome , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[17]  K. Choy,et al.  Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma , 2013, PloS one.

[18]  I. Krantz,et al.  Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases , 2012, American journal of medical genetics. Part A.

[19]  P. Kozlowski,et al.  Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies , 2005, European Journal of Human Genetics.

[20]  E. Goncharova,et al.  Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics , 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[21]  B. Gasser,et al.  Pallister‐Killian syndrome: difficulties of prenatal diagnosis , 2002, Prenatal diagnosis.

[22]  G. B. Schaefer,et al.  Clinical variability of tetrasomy 12p , 1997, Clinical genetics.

[23]  A. Schinzel Tetrasomy 12p (Pallister-Killian syndrome). , 1991, Journal of medical genetics.

[24]  A. Chapelle,et al.  Pallister‐Killian syndrome: cytogenetic and molecular studies , 1987, Clinical genetics.