Christian M. Parobek

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Brian Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren Westerfield et autres

OBJECTIVE: Mirror syndrome is a rare, life-threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome. METHODS: We conducted a retrospective …

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Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions

Christian M. Parobek, Roni Zemet, Vivienne Souter, Elizabeth Repass et autres

PURPOSE: Early actionable metabolic conditions (EAMCs) are disorders that are often severe but have early interventions that can improve clinical outcomes. EAMCs are not universally included on newborn screening panels. We studied the clinical utility of detecting EAMC gene variants prenatally using …

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Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Maria Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek et autres

OBJECTIVE: While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid …

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Cardiogenic hydrops and placental thickening are independent predictors of maternal mirror syndrome

Brian Burnett, Christian M. Parobek, Ahmed A. Nassr

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The effect of uterine entry technique on chorioamniotic membrane separation in fetoscopic laser photocoagulation for twin-to-twin transfusion syndrome: protocol for a randomized controlled trial

Brian Burnett, Jessian L. Munoz, Rebecca Johnson, Christian M. Parobek et autres

BACKGROUND: Chorioamniotic membrane separation (CAS) is a recognized complication of fetoscopic laser photocoagulation (FLP) for twin-to-twin transfusion syndrome (TTTS), associated with increased risks of preterm prelabor rupture of membranes (PPROM) and preterm birth (PTB). Although CAS is well described, its incidence and …

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Prenatal sonographic predictors of maternal mirror syndrome in hydropic fetuses

Brian Burnett, Christian M. Parobek, Matthew A. Shanahan, Jessian L. Munoz et autres

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SeekDeep: single-base resolution de novo clustering for amplicon deep sequencing

Nicholas J. Hathaway, Christian M. Parobek, Jonathan J. Juliano, Jeffrey A. Bailey

PCR amplicon deep sequencing continues to transform the investigation of genetic diversity in viral, bacterial, and eukaryotic populations. In eukaryotic populations such as Plasmodium falciparum infections, it is important to discriminate sequences differing by a single nucleotide polymorphism. In bacterial populations, single-base …

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Diagnostic Value of Cell‐Free DNA Fetal Fraction in Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder

Danielle Chirumbole, Christian M. Parobek, Haleh Sangi‐Haghpeykar, Yamely Mendez et autres

OBJECTIVE: The purpose of this study was to investigate the relationship between fetal fraction (FF) and placenta accreta spectrum (PAS) pathology in patients with prenatally suspected PAS. METHODS: This was a case-control study utilizing a database of pregnancies with suspected or proven …

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Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth

Roni Zemet, Christian M. Parobek, April Adams, Mohamad Ali Maktabi et autres

OBJECTIVE: Exome sequencing (ES) benefits the genetic work-up for fetuses with structural anomalies, but data on its utility for fetuses without anomalies and stillbirths is more limited. We report our experience with prenatal ES for all three indications. METHOD: We retrospectively reviewed …

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A Qualitative Study of Pregnant Patient Perspectives on Genetic Privacy of Cell‐Free DNA and Optimal Design of a Prenatal Genetics Video‐Based Educational Intervention

Margaret M. Thorsen, Rose Mahoney, Christian M. Parobek, Paola Muñoz et autres

OBJECTIVE: To receive feedback on the design and content of a prenatal genetics video tool and explore pregnant patients' views on genetic information privacy. METHODS: Video education covered prenatal aneuploidy screening and diagnosis and genetic privacy of cell-free DNA (cfDNA). English or …

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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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Family Lore, a Variant of Uncertain Significance, and CADASIL

R. Gonzalez Duarte, Liesbeth Vossaert, Sandra Darilek, Chelsi Rose et autres

An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a …

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