# Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

> **NIH NIH R01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2021 · $1,792,635

## Abstract

Project Summary
 Whole exome and whole genome sequencing (WGS) have expanded our ability to determine the genetic
etiology of previously undiagnosed disorders. We propose a multicenter prospective cohort study to evaluate the
emerging technology of WGS for the management of fetuses with structural anomalies. We hypothesize that a
significant subset of fetal structural anomalies has a genetic etiology identifiable by whole genome sequencing
(WGS) and that prenatal knowledge of this information will improve perinatal care, reduce unnecessary
diagnostic testing, reduce the cost of care, and improve quality of life for both the child and the family. Our aims
are to investigate these multiple aspects of prenatal sequencing in a single study with an innovative integrated
prospective design, which will permit a robust evaluation of the benefits and risks of delivering diagnostic and
prognostic genetic testing results in a prenatal setting. To certify sufficient funds to accomplish all goals, we have
secured significant industry support for the cost of WGS.
 The study will determine, in a sequential population of women with pregnancies with unselected fetal
structural anomalies, the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable
by WGS. To determine the impact of this information on clinical care we will prospectively recruit a control
population of women with unsequenced pregnancies with similar structural anomalies and follow the infants from
both cohorts up to 1 year of age. This study component will evaluate differences in healthcare management and
cost. The educational, counseling and psychosocial impact of WGS data during the prenatal period, in the
nursery and through 1 year of life will also be evaluated. Since the analytical and clinical tools needed for the
full translation of WGS into care are still developing, we will investigate and optimize bioinformatic tools to
improve identification of pathogenic and likely pathogenic mutations associated with prenatal phenotypes of
established disease genes, as well as identification of new genes associated with presently undiagnosed
fetal/neonatal phenotypes. Accomplishing the aims that address our study hypotheses will require the
establishment of a tightly integrated team with collective expertise in diagnosis of fetal anomalies, interpretation
of WGS data, clinical genetics, cost effectiveness analysis, and ethical, legal and psychosocial outcomes. The
assembled team has expertise in each of these areas as well as a track record of prior productive collaboration.
This study will provide an in-depth evaluation of the prenatal diagnostic value of WGS prior to its responsible
introduction into practice and will provide independent data to guide its translation.

## Key facts

- **NIH application ID:** 10247511
- **Project number:** 5R01HD055651-14
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Wendy K Chung
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,792,635
- **Award type:** 5
- **Project period:** 2007-06-08 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10247511

## Citation

> US National Institutes of Health, RePORTER application 10247511, Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation (5R01HD055651-14). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10247511. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*