Jessica L. Saben

Disparities in genetic testing: Evaluation of reproductive carrier screening in the United States

Sheetal Parmar, Jessica L. Saben, Madeleine Armer-Cabral, Emily Morton et autres

PURPOSE: To evaluate sociodemographic differences in US individuals screened with expanded versus small reproductive carrier panels at a single commercial laboratory. METHODS: A retrospective analysis of genetic and sociodemographic data (1-2020 to 9-2022) from female patients (18-45 years) that received expanded carrier …

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Testing for hereditary cancer genes in men: a missed opportunity for cancer prevention

Calan Szmyd, Madison LaFleur, Ashley Cantu-Weinstein, Jingwen Zhang et autres

Introduction: Genetic testing for inherited cancer risk syndromes can inform targeted surveillance and intervention, but testing for male patients is inadequately addressed by medical literature and clinical guidelines despite having higher cancer-related mortality and morbidity than women. Here, we evaluate characteristics and …

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Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies

Rubén A. Quintero, K. Joseph Hurt, Neeta L. Vora, Neil S. Seligman et autres

Introduction The importance of prenatal determination of chorionicity for the management of twin pregnancies is well recognized. However, research on the contribution of prenatal evaluation of zygosity to the management of twins is limited. We assessed the utility of adding SNP-based cell-free …

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Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies

Rubén A. Quintero, K. Joseph Hurt, Neeta L. Vora, Neil S. Seligman et autres

The importance of prenatal determination of chorionicity for the management of twin pregnancies is well recognized. However, research on the contribution of prenatal evaluation of zygosity to the management of twins is limited. We assessed the utility of adding SNP-based cell-free DNA …

Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnancies

Rubén A. Quintero, K. Joseph Hurt, Neeta L. Vora, Neil S. Seligman et autres

The importance of prenatal determination of chorionicity for the management of twin pregnancies is well recognized. However, research on the contribution of prenatal evaluation of zygosity to the management of twins is limited. We assessed the utility of adding SNP-based cell-free DNA …

4,535 MOSAIC EMBRYOS: DESCRIPTION OF COHORT AND IMPACT OF FEMALE PATIENT AGE

Jeannie Klavanian, Jessica Adsit, Jeffrey T. Meltzer, Madeleine Armer-Cabral et autres

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Patients' experiences using an educational virtual assistant for review of reproductive genetic screening results

Sarah Yarnall, Jessica L. Saben, Melissa Maisenbacher, Talia Shirazi et autres

This observational study aimed to capture patients' experiences after reviewing carrier screening (CS) and/or noninvasive prenatal cell-free DNA testing (NIPT) results with Natera's Educational Virtual Assistant (NEVA). Patients, partners of patients, or other individuals designated to review the patients' results were included …

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P808: Expanded carrier screening detects early actionable metabolic conditions

Christian M. Parobek, Roni Zemet Lazar, Eugenia Martinez Jaime, Yang Wang et autres

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O59: Next generation sequencing in blastocyst stage embryos: Results of over 41,000 trophectoderm biopsy samples

Jessica Adsit, Jeannie Klavanian, Jessica L. Saben, Youbao Sha et autres

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Clinical Validation of a Prenatal Cell-Free DNA Screening Test for Fetal RHD in a Large U.S. Cohort

Marisa Gilstrop Thompson, Wenbo Xu, Bridget Moore, Tina Wang et autres

OBJECTIVE: To present a large U.S. clinical validation of a next-generation sequencing-based, noninvasive prenatal cell-free DNA test for fetal RHD . METHODS: This clinical validation study assessed the performance of a commercially available, next-generation sequencing-based cell-free DNA test for fetal RHD status. …

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Excessive Gestational Weight Gain, Independent of Body Mass Index, Is Associated With Child Fat Mass Index at Age 2 Years in the Growing life, Optimizing Wellness Study

Jessica L. Saben, Rebecca A. Krukowski, Elisabet Børsheim, Clark Sims et autres

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EXPANDED CARRIER SCREENING: FAIR FOR ALL FERTILITY PATIENTS?

Jessica L. Saben, Madeleine Armer-Cabral, Sheetal Parmar, Asha N. Talati et autres

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