Roni Zemet Lazar

P741: Uncovering incidental parental chromosomal abnormalities through preimplantation genetic testing for aneuploidy

Roni Zemet Lazar, Ashley Spector, Hailie Ciomperlik, Laurie J. McKenzie et autres

Preimplantation genetic testing for aneuploidy (PGT-A) is increasingly utilized to detect embryo aneuploidy, but may also identify some copy number variants (CNVs) with clinical implications. Current practice lacks standard guidelines for parental testing when embryo results suggest inherited chromosomal abnormalities. This study …

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O63: Reproductive carrier screening for metabolic conditions with heterozygous manifestations

Christian Parobek, Roni Zemet Lazar, Vivienne Souter, Elizabeth Repass et autres

Heterozygotes for some autosomal recessive or X-linked conditions may be at risk for health manifestations. Several metabolic conditions have potential implications for heterozygotes' health and are associated with clinical actionability. Although these heterozygotes can be identified through reproductive carrier screening (RCS), the …

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P820: Use of aspirin prophylaxis in pregnant patients with genetic conditions

Katherine Abraham, Roni Zemet Lazar, Allyson Nevins, Ignatia Van den Veyver et autres

Introduction: Bilateral renal agenesis (BRA) with anhydramnios due to fetal anuria has a poor prognosis due to severe pulmonary hypoplasia.Although often isolated, BRA may be one feature of a larger, complex genetic disorder.Our objective was to further elucidate the genetic etiologies of …

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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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P821: The use of postpartum long-acting reversible contraceptives among women with genetic conditions

Allyson Nevins, Roni Zemet Lazar, Katherine Abraham, Ignatia Van den Veyver et autres

Interpregnancy intervals shorter than 6 months are associated with increased maternal and fetal risks. Studies have shown that women with genetic conditions are at a higher risk for pregnancy complications. Additionally, national databases indicate that medically complex women are at an increased …

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P812: Rate of prenatal diagnostic testing among women with genetic conditions

Roni Zemet Lazar, Allyson Nevins, Katherine Abraham, April Adams et autres

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169 Curating the fetal genome: experience of the ClinGen prenatal gene curation expert panel (GCEP)

Stephanie Galloway, Jessica L. Giordano, Amanda Thomas‐Wilson, Volkan Okur et autres

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692 Genetic findings among neonates with perinatal hypoxic-ischemic encephalopathy

Christian M. Parobek, Matthew A. Shanahan, Roni Zemet Lazar, Brian Burnett et autres

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800 Variation in genetic workup of polyhydramnios: An international and inter-specialty survey

Lena Sagi‐Dain, Yuval Yaron, Roni Zemet Lazar

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P808: A retrospective analysis of pregnancy outcome and obstetric care in individuals with genetic conditions compared to controls

Roni Zemet Lazar, Katherine Abraham, Allyson Nevins, Ignatia Van den Veyver et autres

Advances in early diagnosis and management of genetic conditions, alongside improved assisted reproductive technologies, allow more people with genetic disorders to pursue pregnancy, but clinical data regarding pregnancy outcomes for these individuals remains limited. This impacts counseling on the influence of genetic …

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P605: Clinically significant parental diagnosis as an incidental finding from prenatal genetic testing

Dan Brooks, Roni Zemet Lazar, Sandra Darilek, Grant Bonesteele et autres

dysfunction (n=1).The 2 variants that reoccurred in our cohort were found across 4 diagnostic AD cases (p.Val598Met, n=2; p.Met870Ile, n=2).Seven possibly diagnostic cases involved an assortment of VUS that might cause NIHF and are strong candidates for functional studies.Conclusion: PIEZO1 variants were …

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O44: Diagnostic yield of amniocentesis in pregnancies ≥24 weeks: An international multicenter study*

Roni Zemet Lazar, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica Giordano et autres