CHR’s FMR1 Study Outlining Testing Future Fertility Published

Gene Study Offers Crystal Ball View of Future Fertility in Young Women

NEW YORK CITY, NY – A simple blood test can likely predict young women’s future ability to have children later in life, according to a new study published in the medical journal Translational Research.

By evaluating different versions of a single gene, called the FMR1 gene, scientists from the Center for Human Reproduction (CHR) in New York found they could identify young women in their early 20s at risk for later premature ovarian aging (POA). POA affects approximately 10 percent of women, independent of race and ethnicity. The ovarian function of young women who develop POA resembles the diminished fertility capabilities expected only in older women, as if the ovaries age faster than the person.

Currently, POA is almost always diagnosed too late, when women experience infertility and often require costly treatments in order to conceive. Early diagnosis of POA at still young ages offers affected women significant additional options, such as having children at younger ages or preserving their still “young” eggs by freezing them at young ages.

In the recently published study, CHR scientists assessed 233 highly selected, healthy young egg donors with mean age 24 years, and followed a subgroup among them for an average of four years. The study reports that women with so-called low FMR1 alleles age their ovaries prematurely, which means that they lose their eggs at accelerated rate in comparison to women who do not carry such a low FMR1 allele. Since the FMR1 gene is located on the X chromosome, women have two FMR1 genes. As one would expect, women who, therefore, have two low FMR1 genes express egg loss even earlier than those with only one low FMR1 gene.

CHR investigators have been pursuing research of the FMR1 gene for a number of years, and were the first scientists in the world to point out in a series of prior publications the potential importance of the FMR1 gene in ovarian aging. They also have been awarded U.S. patents for use of FMR1 testing in predicting early ovarian aging. This study, however, for the first time in longitudinal follow up of young women demonstrates the practical utility of FMR1 testing in such a young female population.

The importance of this manuscript is best summarized in the investigators’ own words: “The ability to identify women at risk for early ovarian aging already at young ages would be highly desirable. Early diagnosis would offer affected patients additional choices, including earlier pregnancy attempts and/or fertility preservation, when cryopreserved oocytes/embryos offer highest pregnancy chances, and, therefore, are most cost-effective.”

Translational Research, formerly called The Journal of Laboratory and Clinical Medicine, has been published monthly since 1915. It is the official Journal of the Central Society for Clinical and Translational Research.
The study abstract is here:

About The Center for Human Reproduction
CHR, located in New York City, is one of the world’s leading clinical and research centers in reproductive medicine and infertility. CHR has special expertise in treating women with low functional ovarian reserve, and pioneered many innovations that have become mainstays of infertility treatments worldwide. The study’s authors are available for further comments. Contact: 212-994-4400 x.4492

Norbert Gleicher, MD, leads CHR’s clinical and research efforts as Medical Director and Chief Scientist. A world-renowned reproductive endocrinologist, Dr. Gleicher has published hundreds of peer-reviewed papers and lectured globally while keeping an active clinical career focused on ovarian aging, immunological issues and other difficult cases of infertility.