293 research outputs found
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
No full textData source: Supplementary information, https://doi.org/10.1038/ng.581Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries & Joris A Veltma
Fetal sex determination in twin pregnancies using non-invasive prenatal testing
No full textNon-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin pregnancies. Here, we present an accurate sex prediction model to discriminate fetal sex in both dichorionic diamniotic (DCDA) and monochorionic diamniotic/monochorionic monoamniotic (MCDA/MCMA) twin pregnancies. A retrospective analysis was performed using a total of 198 twin pregnancies with documented sex. The prediction was based on a multinomial logistic regression using the normalized frequency of X and Y chromosomes, and fetal fraction estimation. A second-step regression analysis was applied when one or both twins were predicted to be male. The model determines fetal sex with 100% sensitivity and specificity when both twins are female, and with 98% sensitivity and 95% specificity when a male is present. Since sex determination can be clinically important, implementing fetal sex determination in twins will improve overall twin pregnancies management.sponsorship: The authors sincerely thank the clinical geneticists and counselors of the Center of Human Genetics-UZ Leuven for contributing to the genetic counseling of the patients. This work was funded by the Fonds voor Wetenschappelijk Onderzoek (FWO-Vlaanderen: G080217N). D.V. was supported by FAPESP (2017/23448-8). (Fonds voor Wetenschappelijk Onderzoek (FWO-Vlaanderen)|G080217N, FAPESP|2017/23448-8)status: Publishe
Care for older persons on the emergency department: does a transitional geriatric care model (URGENT care model) prevent unplanned emergency department readmissions?
No full textPredicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing
No full textNon-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening.sponsorship: SymBio-Sys, Grant/Award Number: PFV/10/016; GOA, Grant/Award Number: GOA/12/015 (SymBio-Sys|PFV/10/016, GOA|GOA/12/015)status: Publishe
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