High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Stephanie M Rice¹, Mona M Makhamreh², Sascha Wodoslawsky³, Mariella Toro⁴, Elizabeth Critchlow⁵, Brandy Firman⁶, Ruby Liu⁷, Babi Ramesh Nallamilli⁷, Madhuri Hegde⁷, Seth I Berger⁸, Huda B Al-Kouatly¹

¹Division of Maternal-Fetal Medicine, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

²Division of Maternal-Fetal Medicine/Genetics, Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.

³Department of Obstetrics and Gynecology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

⁴Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

⁵Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

⁶Department of Obstetrics and Gynecology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

⁷Revvity Omics, Pittsburgh, Pennsylvania, USA.

⁸Ambry Genetics, Aliso Viejo, California, USA.

PubMed DOI

Abstract

Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases. We report ES findings in the remaining cohort and investigate the incremental yield of genome sequencing (GS) in cases with…

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