Infertility 101: What Every Rheumatologist Should Know

TR: To what extent is genetic screening used?

AC: The American College of Obstetricians and Gynecologists recommends offering carrier screening to all women who are pregnant or planning pregnancy; it is best performed prior to pregnancy. This screening is now part of the preconception evaluation that is performed for women seeking care from specialists in my department.

Certain genetic conditions are sometimes found in the evaluation for infertility or recurrent pregnancy loss, including cystic fibrosis transmembrane conductance regulator (CFTR) mutations associated with congenital bilateral absence of the vas deferens, fragile X or FMR1 (fragile X messenger ribonucleoprotein 1) related primary ovarian insufficiency, and karyotype changes, as in women with Turner syndrome or Turner mosaicism or men with Klinefelter syndrome.

We now have the ability to test embryos prior to transfer. This process is called preimplantation genetic testing and can be applied to screen embryos for aneuploidy (PGT-A), structural rearrangements (PGT-SR), and single gene mutations (PGT-M). The use of PGT-A is being evaluated as a way to reduce pregnancy losses and improve live birth rates. PGT-M is allowing couples to prevent transmission of specific genetic syndromes, such as those associated with BRCA1 and BRCA2 gene mutations and FMR1 mutations that are associated with fragile X syndrome.

Jason Liebowitz, MD, is an assistant professor of medicine in the Division of Rheumatology at Columbia University Vagelos College of Physicians and Surgeons, New York.

Reference

1. Chandra A, Copen CE, Stephen EH. Infertility and impaired fecundity in the United States, 1982–2010: Data from the national survey of family growth. Natl Health Stat Report. 2013 Aug 14;(67):1–18.