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PFC Infertility Doctor Blog

The Infertility Blog

November 21, 2016

When it comes to carrier screening for single-gene disorders in prospective parents, the standard of care for decades has been to check carrier status for a limited set of disorders. These diseases have typically been selected based on family history or an increased frequency of mutation within a specific racial or ethnic group. Prospective parents also now undergo universal screening for cystic fibrosis.

Study design. U.S. researchers designed a study to consider the benefits of rapid expanded carrier screening for a large number of conditions—all at once—over screening for a limited set of disorders.

The retrospective study included 346,790 prospective parents who were tested to see whether they carried genes for 95 severe conditions—which, left untreated in their offspring, would cause intellectual disability or a much-shortened lifespan—or in some profound cases, both.1

November 18, 2016

The United States and Canada have the world’s highest rate of multiple pregnancies following fertility treatments.  This is in part due to lack of regulation, but also results from patients and physicians aggressively transferring multiple embryos at once in the hope of achieving any pregnancy.  The result is that almost half the pregnancies are twins and a significant number of triplet and high-order multiple pregnancies are still occurring1.  These are all high risk pregnancies with likely complications and health problems for mother and babies that are significantly reduced in singleton pregnancies.

November 17, 2016

After in vitro fertilization (IVF), why do male embryos disproportionately survive the developmental journey to live birth? A retrospective analysis zeroed in on the specific association between blastocyst-stage embryo transfers and a higher proportion of male embryos—examining whether these transfers ultimately result in more male live births.1

The study methods. In the study, 535 patients underwent IVF using their own eggs and intracytoplasmic sperm injection (ICSI), using sperm from males with no severe male factor infertility. Next:

November 16, 2016

Only 1 in 4 infertile couples in the U.S. can afford the fertility care they need to achieve pregnancy. Some even turn to crowdfunding to help close the spending gap.

ASRM efforts. The American Society for Reproductive Medicine (ASRM) has begun to explore strategies for broadening access to care. A year ago, ASRM held a summit meeting in Washington, DC and created a task force to follow through on potential solutions such as the use of private foundations.  It conducted an observational study to explore their feasibility.1

A foundation for success. The researchers worked with the Kevin J. Lederer Life Foundation, which is a collaborative effort among Chicago-area fertility practices to promote health and alleviate the mental and physical challenges of those who are infertile. It does this through financial contributions and educational events on topics such as egg vitrification and male factor infertility.

November 15, 2016

Preimplantation genetic screening (PGS) has improved pregnancy and birth outcomes for women undergoing in vitro fertilization (IVF), especially in women at risk for an abnormal number of chromosomes (aneuploidy). Advances in PGS have even made it possible to spot a condition called mosaicism. Varying in severity, mosaicism is an early error in cell division that results in two or more cell lines with different genetic makeup.

The sophisticated knowledge gleaned through advanced methods of PGS, however, poses a challenge to reproductive endocrinologists: Should they transfer embryos with low-level mosaicism—embryos that may still result in healthy live births?

Parsing mosaicism. An observational study examined the rate of low-level mosaicism in blastocysts with a normal complement of chromosomes (euploid) to blastocysts where no mosaicism was detected.1