Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole‐genome non‐invasive prenatal screening (NIPS).

[1]  M. Pertile,et al.  Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations , 2020, Genetics in Medicine.

[2]  C. Sismani,et al.  Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases , 2019, Molecular Cytogenetics.

[3]  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.

[4]  J. Bartha,et al.  Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications. , 2019, American journal of obstetrics and gynecology.

[5]  D. Smeets,et al.  Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results , 2018, Genetics in Medicine.

[6]  I. Vogel,et al.  Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing? , 2018, Expert review of molecular diagnostics.

[7]  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.

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

[9]  N. Guex,et al.  Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases , 2016, Genetics in Medicine.

[10]  Peiyong Jiang,et al.  FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA , 2016, npj Genomic Medicine.

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

[12]  C. Liao,et al.  Detection of fetal copy number variants by non‐invasive prenatal testing for common aneuploidies , 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[13]  John Tynan,et al.  Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts , 2015, Prenatal diagnosis.

[14]  G. Hannum,et al.  Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. , 2015, Clinical chemistry.

[15]  A. Rajkovic,et al.  Maternal Cell free DNA based screening for fetal microdeletion and the importance of careful diagnostic follow up , 2014, Genetics in Medicine.

[16]  M. Reinders,et al.  Introducing WISECONDOR for noninvasive prenatal diagnostics , 2014, Expert review of molecular diagnostics.

[17]  M. Reinders,et al.  WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme , 2013, Nucleic acids research.

[18]  Ping Liu,et al.  A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing , 2013, Prenatal diagnosis.

[19]  R. Rava,et al.  Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. , 2013, American journal of human genetics.

[20]  D. Van Opstal,et al.  Accuracy of abnormal karyotypes after the analysis of both short‐ and long‐term culture of chorionic villi , 2000, Prenatal diagnosis.

[21]  R. Galjaard,et al.  Abnormal karyotypes in semi‐direct chorionic villus preparations of women with different cytogenetic risks , 1998, Prenatal diagnosis.

[22]  Diagnosis,et al.  Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data , 1994, Prenatal diagnosis.

[23]  L. Shaffer,et al.  Chromosome Abnormalities and Genetic Counseling , 1989 .