Peter Benn
YOU?
Author Swipe
View article: Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants
Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants Open
Reproductive carrier screening aims to identify individuals at an increased chance of having children affected by genetic conditions. However, testing can also reveal health implications for autosomal or X‐chromosome heterozygotes. One suc…
View article: Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management Open
The BTD P/LP variants identified through RCS were substantially compatible with those found through positive newborn screening. Therefore, RCS provides a potential for earlier diagnosis. We observed significant differences in P/LP heterozy…
View article: Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing
Chromosome segregation of human nonhomologous Robertsonian translocations: insights from preimplantation genetic testing Open
Robertsonian translocations (robs) are associated with a high risk for unbalanced segregations. Preimplantation Genetic Testing (PGT) offers an early opportunity to evaluate segregation patterns and selection against chromosome imbalances.…
View article: Accuracy of fetal fraction measurements in a single‐nucleotide polymorphism‐based noninvasive prenatal test
Accuracy of fetal fraction measurements in a single‐nucleotide polymorphism‐based noninvasive prenatal test Open
Background Noninvasive prenatal testing (NIPT) for fetal aneuploidy relies on the analysis of fetoplacental cell‐free DNA (cfDNA) found in maternal plasma. A minimum cfDNA fetal fraction (FF) is required for reliable test performance, but …
View article: Chromosome segregation of human non-homologous Robertsonian translocations: insights from preimplantation genetic testing
Chromosome segregation of human non-homologous Robertsonian translocations: insights from preimplantation genetic testing Open
Robertsonian translocations (RTs) are associated with a high risk for unbalanced segregations. Preimplantation Genetic Testing (PGT) offers an early opportunity to evaluate segregation patterns and selection against chromosome imbalances. …
View article: Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States Open
BACKGROUND: Familial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the LDLR gene in female individuals receiving reproducti…
View article: P681: Carrier screening with the ACMG 113: An early look and new insights
P681: Carrier screening with the ACMG 113: An early look and new insights Open
In 2021, ACMG released a practice resource for reproductive carrier screening and recommended a pan-ethnic, 113-gene panel as the standard offering for reproductive carrier screening, with a recommendation for a more extensive gene panel b…
View article: 1152 Positive Carrier Screening for Alport Syndrome: A Need for Greater Awareness
1152 Positive Carrier Screening for Alport Syndrome: A Need for Greater Awareness Open
View article: P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening
P651: Bleeding complications in pregnant carriers of factor IX and factor XI ascertained through carrier screening Open
Some carriers of inherited coagulation disorders are at increased risk of bleeding, and this may not always correlate with clotting factor levels. Factor IX deficiency is caused by pathogenic (P)/likely pathogenic (LP) variants in the F9 g…
View article: 250 Preimplantation genetic testing (PGT) for non-homologous Robertsonian translocation carriers: a twelve-year laboratory experience
250 Preimplantation genetic testing (PGT) for non-homologous Robertsonian translocation carriers: a twelve-year laboratory experience Open
View article: Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy
Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy Open
OBJECTIVE: To identify conditions on a reproductive carrier screening panel with the potential for carrier manifestations during pregnancy and review the implications for obstetric care. METHODS: This was a retrospective cross-sectional st…
View article: Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) Open
Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods Prenatal diagnostic test results obtained by Italian laboratori…
View article: Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study
Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study Open
Background Automation has been introduced into variant interpretation, but it is not known how automated variant interpretation performs on a stand‐alone basis. The purpose of this study was to evaluate a fully automated computerized appro…
View article: Rare autosomal trisomies detected by non-invasive prenatal testing
Rare autosomal trisomies detected by non-invasive prenatal testing Open
View article: A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X
A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X Open
Non-invasive prenatal testing (NIPT) for trisomies 21, 18, 13 and monosomy X is widely utilized with massively parallel shotgun sequencing (MPSS), digital analysis of selected regions (DANSR), and single nucleotide polymorphism (SNP) analy…
View article: Non‐invasive prenatal screening for fetal triploidy using single nucleotide polymorphism‐based testing: Differential diagnosis and clinical management in cases showing an extra haplotype
Non‐invasive prenatal screening for fetal triploidy using single nucleotide polymorphism‐based testing: Differential diagnosis and clinical management in cases showing an extra haplotype Open
Objective An extra haplotype is infrequently encountered in single nucleotide polymorphism(SNP)‐based non‐invasive prenatal testing (NIPT) and is usually attributed to an undetected twin or triploidy. We reviewed a large series to establis…
View article: Clinical experience with non‐invasive prenatal screening for single‐gene disorders
Clinical experience with non‐invasive prenatal screening for single‐gene disorders Open
Objective To assess the performance of a non‐invasive prenatal screening test (NIPT) for a panel of dominant single‐gene disorders (SGD) with a combined population incidence of 1 in 600. Methods Cell‐free fetal DNA isolated from maternal p…
View article: Non‐invasive prenatal testing in the management of twin pregnancies
Non‐invasive prenatal testing in the management of twin pregnancies Open
Twin pregnancies are common and associated with pregnancy complications and adverse outcomes. Prenatal clinical management is intensive and has been hampered by inferior screening and less acceptable invasive testing. For aneuploidy screen…
View article: OC11.01: *Clinical experience with carrier screening in a general population: support for a comprehensive pan‐ethnic approach
OC11.01: *Clinical experience with carrier screening in a general population: support for a comprehensive pan‐ethnic approach Open
To present next generation sequencing (NGS) based expanded carrier screening (CS) results from the USA. Single-gene disorder carrier status for 381,014 individuals was determined using NGS-based pan-ethnic CS for up to 274 genes. Detection…
View article: VP29.09: Abstract withdrawn
VP29.09: Abstract withdrawn Open
Virtual poster abstractsCVS and 10 (1.3%) had an amniocentesis even after a normal 1T/2T screen.Of the 273 mothers who had ''high risk'' on the cFT screen with a normal fetal scan, 117 (42.8%) had amniocentesis, 91 (33.3%) had cfDNA and 65…
View article: VP29.10: Abstract withdrawn
VP29.10: Abstract withdrawn Open
Virtual poster abstractsCVS and 10 (1.3%) had an amniocentesis even after a normal 1T/2T screen.Of the 273 mothers who had ''high risk'' on the cFT screen with a normal fetal scan, 117 (42.8%) had amniocentesis, 91 (33.3%) had cfDNA and 65…
View article: VP29.11: High‐positive predictive values across maternal ages in non‐invasive prenatal testing for fetal aneuploidy
VP29.11: High‐positive predictive values across maternal ages in non‐invasive prenatal testing for fetal aneuploidy Open
Non-invasive prenatal testing (NIPT) based on the analysis of cell-free DNA in maternal plasma has been shown to have high sensitivity and specificity, especially with advanced maternal ages. This study analysed the test performance based …
View article: VP08.02: Noonan syndrome screening by non‐invasive prenatal testing for single‐gene disorders
VP08.02: Noonan syndrome screening by non‐invasive prenatal testing for single‐gene disorders Open
Noonan spectrum disorders (NSDs) are a group of clinically heterogeneous autosomal conditions with relatively high prevalence, that share similar phenotypic findings with chromosome aneuploidy, particularly increased nuchal translucency (N…
View article: Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach Open
The original version of this Article contained an error in Table 2. The value in brackets in row 2, column 2 (Caucasian, at-risk couple rate) should be 3.16, instead of 0.93. This has now been corrected in both the PDF and HTML versions of…
View article: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach Open
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
View article: Issue Information
Issue Information Open
No abstract is available for this article.
View article: Combining the use of a fetal fraction‐based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy
Combining the use of a fetal fraction‐based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy Open
Some women undergoing noninvasive prenatal testing (NIPT) do not receive an informative result due to low fetal fraction (FF). A proportion of these are at increased risk for fetal trisomy 13, 18, or triploidy, while others have no change …
View article: Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening
Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening Open
Objectives The performance of noninvasive prenatal screening (NIPS) for fetal aneuploidy in twin pregnancies is dependent on the amount of placentally derived cell‐free DNA, the “fetal fraction (FF),” present in maternal plasma. We report …
View article: Response to Sistermans et al.
Response to Sistermans et al. Open
View article: Response to Toutain et al.
Response to Toutain et al. Open