Mark D. Pertile
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View article: Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia Open
Summary Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and atypical physical features whose g…
View article: Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy
Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy Open
Background Confined placental mosaicism can cause false-positive prenatal cell-free DNA (cfDNA) screening results, thereby reducing the positive predictive value (PPV) of the test. We sought to investigate how PPVs for the common fetal tri…
View article: ‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations
‘I Could Trust It’: Experiences of Reciprocal Translocation Carriers and Their Partners With Prenatal Cell‐Free DNA Screening for Unbalanced Translocations Open
Objective To explore the experiences of people having cfDNA screening to detect unbalanced translocations, and to understand motivations for choosing this option. Methods We used a qualitative approach with in‐depth semi‐structured intervi…
View article: Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals
Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals Open
View article: Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: A survey of healthcare professionals
Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: A survey of healthcare professionals Open
Background Non-invasive prenatal testing (NIPT) has been clinically available in Australia on a user-pays basis since 2012. There are numerous providers, with available tests ranging from targeted NIPT (only trisomies 21, 18, and 13 +/- se…
View article: “It becomes your whole life”—Exploring experiences of reciprocal translocation carriers and their partners
“It becomes your whole life”—Exploring experiences of reciprocal translocation carriers and their partners Open
Reciprocal translocation carriers are often diagnosed when they are experiencing difficulties conceiving or after a pregnancy affected by an unbalanced set of chromosomes inherited from the balanced carrier parent. Having a reciprocal tran…
View article: Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies Open
Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive prenatal testing (NIPT) to screen for aneuploidy. Widespr…
View article: Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance Open
Circulating cell-free DNA (cfDNA) is rapidly transitioning from discovery research to an important tool in clinical decision making. However, the lack of harmonization of preanalytic practices across institutions may compromise the reprodu…
View article: Supplementary Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
Supplementary Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance Open
Guidelines discussed in article
View article: Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance Open
Circulating cell-free DNA (cfDNA) is rapidly transitioning from discovery research to an important tool in clinical decision making. However, the lack of harmonization of preanalytic practices across institutions may compromise the reprodu…
View article: Supplementary Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
Supplementary Data from Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance Open
Guidelines discussed in article
View article: Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy
Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy Open
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non‐invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future c…
View article: Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model
Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model Open
Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosomal aneuploidy using cell-free DNA derived from maternal blood. It has been rapidly accepted into obstetric practice because of its application from 10-weeks' gestat…
View article: Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study Open
View article: Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies
Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies Open
Background Noninvasive prenatal tests (NIPTs) detect fetal chromosomal anomalies with high clinical sensitivity and specificity. We examined the performance of a paired-end sequencing-based NIPT in the detection of genome-wide fetal chromo…
View article: International Society for Prenatal Diagnosis Position Statement: cell free (cf)<scp>DNA</scp> screening for Down syndrome in multiple pregnancies
International Society for Prenatal Diagnosis Position Statement: cell free (cf)<span>DNA</span> screening for Down syndrome in multiple pregnancies Open
The aim of this Position Statement from the International Society for Prenatal Diagnosis (ISPD) is to review the relevant published literature and make evidence-based recommendations regarding screening twin and triplet pregnancies for Dow…
View article: Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations Open
View article: Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance Open
Circulating cell-free DNA (cfDNA) is rapidly transitioning from discovery research to an important tool in clinical decision making. However, the lack of harmonization of preanalytic practices across institutions may compromise the reprodu…
View article: A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort
A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort Open
STUDY QUESTION What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with >73 000 annual births? SUMMARY ANSWER T…
View article: Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio‐economic status in Victoria, Australia: A population‐based cohort study from 2015 to 2016
Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio‐economic status in Victoria, Australia: A population‐based cohort study from 2015 to 2016 Open
Objectives To explore the association between timing of diagnosis of common autosomal trisomies, maternal age, and socio‐economic status (SES). Design Retrospective study of cytogenetic diagnoses of trisomy 21 (T21), trisomy 18 (T18), and …
View article: The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data
The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data Open
View article: State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study
State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study Open
Objectives To perform individual record linkage of women undergoing screening with cell‐free DNA (cfDNA), combined first‐trimester screening (CFTS), second‐trimester serum screening (STSS), and/or prenatal and postnatal cytogenetic testing…
View article: OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort
OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort Open
To create and analyse a population-based dataset of genomic tests performed on miscarriage, fetal, and infant samples in a state with > 73,000 annual births. A research collaboration of prenatal and postnatal screening and diagnostic units…
View article: OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study
OC01.03: State‐wide performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study Open
To perform individual record-linkage of women undergoing prenatal screening and/or prenatal and postnatal diagnosis to analyse the performance of different screening strategies, and report the residual risks of any major chromosome abnorma…
View article: OC02.02: Performance of a genome‐wide PCR‐free, paired‐end sequencing‐based non‐invasive prenatal screening test, VeriSeq NIPT Solution v2
OC02.02: Performance of a genome‐wide PCR‐free, paired‐end sequencing‐based non‐invasive prenatal screening test, VeriSeq NIPT Solution v2 Open
To evaluate the performance of a highly automated PCR-free solution for cell-free DNA-based non-invasive prenatal testing (NIPT), VeriSeq™ NIPT Solution v2, in the detection of genome-wide fetal chromosomal anomalies, including partial del…
View article: ‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing
‘Small cost to pay for peace of mind’: Women's experiences with non‐invasive prenatal testing Open
Background Non‐invasive prenatal testing ( NIPT ) has been available in Australia on a user‐pays basis since 2012. Since its introduction, it has grown in popularity as a screening method for fetal aneuploidy and may become publicly funded…
View article: ‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications
‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications Open
Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded…
View article: OP08.07: Can whole‐genome sequencing assist in the detection of leimyosarcoma?
OP08.07: Can whole‐genome sequencing assist in the detection of leimyosarcoma? Open
Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Presymptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles. This …
View article: Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome Open
View article: A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin Open
A complete hydatidiform mole (CHM) coexisting with a viable fetus is a rare finding in pregnancies. Accurate diagnosis often relies on ultrasonographic, histopathological and molecular techniques in the definite diagnosis. To the best of o…