Conference Recordings

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Conference Sessions

 
Picture of the product2015 Conference Recordings - Conference Sessions
Complete set of session recordings (not including Preconference Courses) from the 2015 International Conference held 13-15 July 2015.

2015 Conference Attendees receive a discount off the regular pricing. Please see the special order form emailed to you in September 2015, or contact ISPD Headquarters if you cannot find the email with the form.


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Picture of the productISPD 2015: Plen. Debate 1: NIPT Microdeletions, Duplications
DEBATE 1: SHOULD NIPT ROUTINELY INCLUDE MICRODELETIONS AND MICRODUPLICATIONS? 1 hour, 8 mins. Nancy Rose introduces the topic, Aubrey Milunsky gives the con viewpoint and discussion follows. (The pro viewpoint was not released for recording.)

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Picture of the productISPD 2015: Plen. Debate 2: Fetal Exome
DEBATE 2: WILL THE FETAL EXOME CONTRIBUTE TO THE COUNSELING AND MANAGEMENT OF THE DYSMORPHIC OR MALFORMED FETUS? 1 hour, 21 mins. Sylvie Langlois introduces the topic, Lyn Chitty provides the pro viewpoint, and Jan Friedman argues against.

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Picture of the productISPD 2015: Plen. Debate 3: Nuchal Translucency Ultrasound
DEBATE 3: IS THERE VALUE TO A NUCHAL TRANSLUCENCY ULTRASOUND? 1 hour, 23 mins. Doug Wilson introduces this topic. Liona Poon argues for, and Alessandro Ghidini argues against.

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Picture of the productISPD 2015: Plen. Debate 4: Preimplantation Genetic Screening
DEBATE 4: PREIMPLANTATION GENETIC SCREENING SHOULD BE ROUTINELY OFFERED TO ALL PREIMPLANTATION GENETIC DIAGNOSIS PATIENTS. 1 hour, 32 mins. Joe Leigh Simpson introduces and moderates this debate. Dagan Wells argues for, and Joyce Harper argues against.

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Picture of the productISPD 2015: Plenary: Top Abstracts, Malcolm Ferguson-Smith
PLENARY: TOP ABSTRACTS AND MALCOLM FERGUSON-SMITH AWARD. 1 hour.

T-1 Exome sequencing for prenatal diagnosis of abnormalities detected by ultrasound, S. Drury**
T-2 Confirmatory invasive test after a positive NIPT result: CVS or amniocentesis? A chromosome specific likelihood-based choice, F.R. Grati
T-3 TRIDENT: or monitored NIPT implementation in the Netherlands, D. Oepkes**
T-4 Incidental Detection of Occult Maternal Malignancies by Noninvasive Prenatal Testing, D. Bianchi
T-5 Human umbilical cord as a regenerative patch material for in-utero repair of spina bifida, R. Papanna
T-6 Maternal therapy with Ad.VEGF-A165 improves birthweight in a guinea pig model of FGR, A. David**
MALCOLM FERGUSON-SMITH AWARD PRESENTATION, Nicole Burger, MD, Involvement of neurons and retinoic acid in lymphatic development: New insights in increased nuchal translucency

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Picture of the productISPD 2015: Plenary: Top Young Investigator Presentations
PLENARY: TOP YOUNG INVESTIGATOR ABSTRACTS, JOURNAL UPDATE. 51 mins.

LATE BREAKING ABSTRACTS:
LB-1 Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in a public health maternity care setting, L. Chitty**
LB-2 The Influence of Low Molecular Weight Heparin Medication on Plasma DNA in Pregnant Women, W. Hofmann**
LB-3 Patient advocates’ perspectives on non-invasive prenatal genetic testing, M. Minear**

TOP YOUNG INVESTIGATOR ABSTRACTS
Y-1 Correction of Hemoglobin levels in a Heterozygous Humanized Mouse Model of Thalassemia after Fetal Gene Therapy, P. Shangaris
Y-2 Altered fetal brain-placenta hemodynamic interaction in fetuses with complex congenital heart disease: A functional MRI study, W. You**
Y-3 Delving Deeper: Clinical experience with whole exome sequencing in prenatal diagnosis, L. Westerfield

Y-4 Sex-specific Effects of Maternal Obesity on Embryo Size and Brain Gene Expression, A. Edlow

JOURNAL UPDATE, Prenatal Diagnosis, D. Bianchi

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Picture of the productISPD 2015: Closing Plenary
CLOSING PLENARY. 43 mins.

FETAL PRECISION MEDICINE: PRENATAL TREATMENT OF DOWN SYNDROME, Diana Bianchi, MD, Mother Infant Research Institute - Tufts Medical Center


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Picture of the productISPD 2015: Session 1: NIPT: Aneuploidy, Discordancy…
SESSION 1: NIPT: ANEUPLOIDY, DISCORDANCY, SINGLE GENES. 1 hour, 24 mins.


Prof Rossa Chiu** (Hong Kong), cf-DNA for autosomal recessive disease: Approaches and challenges to implementation
Glenn Palomaki PhD (USA), Alternative ways to implement noninvasive prenatal diagnostic testing: What are the implications?
1-1 Noninvasive detection of fetal subchromosome abnormalities in maternal plasma by semiconductor sequencing, A. Yin**
1-2 Feasibility of noninvasive prenatal testing for common fetal aneuploidies in maternal serum with low levels circulating fetal cell-free DNA fraction, F. Fiorentino
1-3 Comparison of NIPT clinical performance in 72,382 high-risk pregnant women and 40,287 low-risk pregnant women, Y. Gao
1-4 Triple Positive NIPT: When We Don't Have the Answers, H. Sroka
1-5 Identifying and addressing gaps in knowledge relating to transiting cell free DNA testing into the general pregnancy population, G. Palomaki
1-6 Clinical course and patient outcomes following positive non-invasive prenatal testing (NIPT), L. Dobson

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Picture of the productISPD 2015: Session 2: Screening Adverse Pregnancy Outcomes
SESSION 2: SCREENING ADVERSE PREGNANCY OUTCOMES. 52 mins.

Liona Poon MRCOG, MD (UK), How to best predict preeclampsia

Prof Stephen Tong** (Australia), Measuring RNA in maternal blood to identify fetal growth restriction at term
2-1 Three-dimensional placental perfusion imaging using velocity-selective arterial spin labeled MRI: Preliminary results, Z. Zun**
2-2 Beyond Down Syndrome: A Model of Costs and Outcomes of an Enhanced First Trimester Screening Program for Trisomy 21 and Pre-Eclampsia, T. Huang**
2-3 Fetal Fraction of cell-free DNA in Maternal Plasma:Association with Pregnancy Factors in a Large Dataset, M. Schmid**
2-4 First trimester serum acylcarnitine levels to predict preeclampsia; a metabolomics approach, J. Pennings
2-5 Maternal plasma microbiome detection by analyzing sequencing data of non-invasive prenatal test, F. Jiang
2-6 A Study on Cardiac Troponin T in Cord Blood as a Biochemical Marker for Fetal Cardiac Dysfunction, Y. Wang

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Picture of the productISPD 2015: Session 3: Fetal Development and Twinning
SESSION 3: FETAL DEVELOPMENT AND TWINNING. 1 hour, 25 mins.

Mary Norton MD (USA), Unraveling the mechanism of discordant cardiac anomalies in monozygotic twins
Rodrigo Ruano MD, PhD (USA), Updates in lower urinary tract disorders
3-1 Early extra-uterine exposure alters regional cerebellar development, C. Limperopoulos**
3-2 Advanced magnetic resonance imaging of the developing brain in living fetuses with Down syndrome, T. Tarui**
3-3 Right Ventricular Outflow Tract Obstruction in monochorionic twin pregnancies: not only in TTTS-recipients, S. Eschbach
3-4 Prenatal Diagnosis of Intertwin Membrane Separation and Pregnancy Outcomes, C. Bibbo
3-5 Selective Feticide in Complicated Monochorionic Twins: Changing trends in outcome?, C. Rossi
3-6 Fetal cell therapy using amniotic fluid stem cells have better engraftment in congenic than allogeneic transplantation, S.W.S. Shaw

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Picture of the productISPD 2015: Session 4: Single Genes: Exp. Carrier Screening…
SESSION 4: SINGLE GENES: EXPANDED CARRIER SCREENING, WHOLE EXOME SEQUENCING. 1 hour, 23 mins.

Anthony Gregg MD (USA), Which disorders to include on a preconception or prenatal expanded carrier screen?
Benjamin Solomon MD (USA), Perinatal genome sequencing
4-1 Non-invasive prenatal diagnosis of phenylketonuria, D. Cram
4-2 Accurate Carrier Frequency Estimates for Smith-Lemli-Optiz syndrome, G. Lazarin
4-3 From Carrier Screening to Single Gene PGD: An Analysis of 1,479 Couples Screened via an Expanded Carrier Screening Platform, N. Kumar**
4-4 Comprehensive Carrier Testing, D. Muzny**
4-5 Incidence of profound and severe diseases greatly exceeds cystic fibrosis: updated data on expanded carrier screening of 311,688 individuals, G. Lazarin
4-6 Going Beyond the Guidelines: A Call for Expanded Jewish Carrier Screening Based on an Analysis of 959 Clinical Samples Screened via an Expanded Carrier Screening Platform, S. Rodriguez**


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Picture of the productISPD 2015: Session 5: Aneuploidy: NIPT to Natural Histories
SESSION 5: ANEUPLOIDY: NIPT TO NATURAL HISTORIES. 1 hour, 49 mins.

Lorraine Dugoff MD (USA), The challenges with sex chromosome aneuploidy detection by cf-DNA
Carole Samango-Sprouse EdD (USA), New advances in the understanding of 47, XXY
5-1 Noninvasive prenatal screening for microdeletions: Clinical population and outcomes, P. Taneja
5-2 Development and validation of a novel whole genome sequencing pipeline for non-invasive prenatal detection of fetal submicroscopic chromosome anomalies, D. Liang
5-3 Clinical experience with a SNP-based noninvasive prenatal test for 22q11.2 deletion syndrome, S. Gross
5-4 The role of first trimester ultrasound in prenatal aneuploidy screening for women with a negative cell free fetal DNA, E. Reiff
5-5 An International Study of X and Y Chromosomal Variations in a Fertile Child-Bearing Age Population, S. Parmar**
5-6 The Fetal Brain and Neonatal Behavioral Phenotype in the Ts1Cje Mouse Model of Down syndrome, F. Guedj


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Picture of the productISPD 2015: Session 6: Challenges Prenatal Genetic Counseling
SESSION 6: CHALLENGES IN PRENATAL GENETIC COUNSELING. 51 mins.

Randi Jenssen Hagerman** MD (USA), Counseling issues for Fragile X premutation carriers
Donna McDonald-McGinn** MS, CGC (USA), Contemporary counseling for the most common microdeletion 22q11
6-1 Whole Exome Sequencing Offered by a Quarter of Fetal Center Genetic Counselors, M. Dudek
6-2 Experiences of high-risk pregnant women who were offered a choice between non-invasive prenatal testing, invasive testing or no follow-up test, L. Henneman**
6-3 Risk Perception of Findings of Unclear Clinical Significance from Ultrasound versus Advanced Genetic Testing, E. Richards
6-4 Offering non-invasive prenatal testing for Down syndrome in a public health service clinical setting • can we ensure maintenance of informed choice?, L. Chitty**
6-5 Negligence and responsibility for genetic diseases in donor offspring, H. Mertes
6-6 Cost-effectiveness of cytogenetic analysis of products of conception by chorionic villous sampling in recurrent pregnancy loss, F. Petracchi

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Picture of the productISPD 2015: Session 7: microRNA, Epigenetics…
SESSION 7: microRNA, EPIGENETICS AND GENETICS OF THE PLACENTA. 1 hour, 5 mins.

Wendy Robinson**, PhD (Canada), What is the connection between placental gene regulation and preeclampsia?
Louise Wilkins-Haug MD, PhD (USA), The placenta as a source for NIPT discordance
7-1 Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy, K. Miura
7-2 Interpreting mosaicism in chorionic villi: results of a monocentric experience of 1001 mosaics in chorionic villi with follow-up amniocentesis, F.R. Grati
7-3 Increased levels of cell-free miR-517a and decreased levels of cell-free miR-518b in maternal plasma samples from placenta previa pregnancies at 32 weeks gestation, Y. Hasegawa
7-4 Promoter region DNA methylation of placental pseudomalignancy related genes as novel fetal DNA epigenetic markers, B. Rahat

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Picture of the productISPD 2015: Session 8: Microarrays in Clinical Practice
SESSION 8: MICROARRAYS IN CLINICAL PRACTICE: PREIMPLANTATION TO OBSTETRIC CARE. 1 hour, 9 mins.

Wybo Dondorp PhD (Netherlands), Counseling dilemmas of prenatal microarrays
Dagan Wells PhD (UK), The current state of arrays and sequencing in preimplantation genetic diagnosis
8-1 Positive rate and VUS rate of prenatal chromosomal microarrays: whole genome array versus targeted array for prenatal diagnostics, L. Matyakhina
8-2 Patient preferences for prenatal testing of microdeletion and microduplication syndromes, E. Calonico
8-3 Change in Classification of Prenatal Microarray Analysis Copy Number Variants Over Time, R. Clifton**
8-4 Design of Microarray-Based Cell-Free DNA Analysis for Non-Invasive Prenatal Testing of Fetal Aneuploidies, A. Oliphant**

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W_AM15_S8

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