# Association of the Maternal Exome with Risk of an Aneuploid Conception

> **NIH NIH R01** · RUTGERS, THE STATE UNIV OF N.J. · 2022 · $372,749

## Abstract

Project Summary/Abstract
Because infertility is a growing public health problem, it is imperative that we understand the
basic mechanisms and identify the genetic risk factors that give rise to this disease. The most
common genetic abnormality that causes miscarriage is aneuploidy, an embryo with an improper
number of chromosomes. While increased risk of aneuploidy is strongly correlated with increasing
maternal age, significant variation exists in aneuploidy rates at any given age, making age alone
an inadequate biomarker for the risk of producing an aneuploid conception. Therefore, we
hypothesize that women who produce higher than average levels of preimplantation stage
aneuploidy at a given age possess causal variants in genes which predispose them to an early
risk of producing an aneuploid conception. To test this hypothesis, we will sequence the exomes
of women at the extremes of the preimplantation aneuploidy phenotype. This project requires a
significant number of prior achievements, including the creation of a DNA bank from women who
have undergone in vitro fertilization (IVF) and comprehensive chromosome screening (CCS) of
IVF-derived embryos, and the development and validation of an accurate method of CCS. Both of
these hurdles have now been overcome making this proposal feasible. To achieve statistical
power to accurately identify disease-causing genes, this study will complete exome-sequencing
efforts that were initiated with pilot project funds. Previously identified candidate genes and those
identified by sequencing in this project will be evaluated for functional significance in an animal
model, because studies involving introduction of mutant genes are not possible in humans. These
approaches will shed light on the molecular mechanisms that control chromosome segregation
in female gametes. Ultimately, this study could lead to the identification of maternal genetic
markers for risk of producing an aneuploid conception, and help prevent infertility by empowering
women with necessary and personalized information to better preserve their individual fertility.

## Key facts

- **NIH application ID:** 10307609
- **Project number:** 5R01HD091331-05
- **Recipient organization:** RUTGERS, THE STATE UNIV OF N.J.
- **Principal Investigator:** Karen A Schindler
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $372,749
- **Award type:** 5
- **Project period:** 2017-12-15 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10307609

## Citation

> US National Institutes of Health, RePORTER application 10307609, Association of the Maternal Exome with Risk of an Aneuploid Conception (5R01HD091331-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10307609. Licensed CC0.

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