Infertility, or the inability to conceive a child, occurs in one in eight to one in ten couples in the United States. Due to the negative impact of age on human eggs, older women are at greater risk and should be referred to a subspecialist for evaluation and care if the woman is attempting pregnancy at age 37 or older, or if the woman is age 35 to 37 and no pregnancy has occurred in six months. If the woman is under age 35, the couple should have an evaluation in one year if they are not able to conceive.
Should risk factors exist such as endometriosis, previous pelvic infection or known male factors, evaluation should occur more quickly. Not only does the increasing age of the woman decrease the number of eggs available to attempt pregnancy and the number that are genetically normal, but it also affects the woman’s ability to benefit from fertility treatments.
One-third of infertility is related to a male factor, one-third to female and one-third to both or to unexplained factors. Most (85 percent) couples are treated with indicated conventional therapy such as ovulation induction, surgery or insemination.
The remaining couples require IVF (In Vitro Fertilization), Egg Donation, Sperm Donation, Embryo Donation or a Gestational Carrier. IVF allows a woman’s eggs to be fertilized in the laboratory by sperm, occasionally requiring ICSI (intracytoplasmic sperm injection into the egg). ICSI is used for severely low sperm counts or with testicular sperm (such as in cystic fibrosis or absent or blocked vas deferens). The embryo is cultured for five days to the blastocyst stage of development and one or two are returned to the uterus through the cervix, based on embryo quality and the age of the woman’s egg.
Additional embryos can be cryo-preserved and stored in liquid nitrogen for a repeat attempt or a second pregnancy. Recent advances in microscopic laser weakening, or “ hatching”, of the zona pellucida which envelopes the embryo have improved pregnancy rates from stored embryos. Hatching is performed both before the process of vitrification (the state of the art “freezing” process) to improve outcome, and after the embryo is thawed to assist it in releasing from the zona to allow implantation in the uterus. Laser hatching may also increase implantation in couples with advanced maternal age, recurrent implantation failure, and poor embryo quality.
IVF can be used with donated eggs if a woman cannot produce her own eggs due to age, damage to the ovaries from endometriosis, cancer, infection or surgery. Others choose this route or use donated sperm to avoid passing their known genetic disease risk to their offspring.
Recent advances in genetic assessment of an embryo allow the detection of serious genetic diseases such as Spinal Muscular Atrophy, Cystic Fibrosis, Sickle Cell Disease, Tay Sach’s disease, Muscular Dystrophy and others before the embryo is transferred. Now performed at the blastocyst stage, a biopsy of the trophectoderm cells of the embryo can be obtained as they extrude from a laser produced opening in the zona pellucida which envelopes the embryo. This does not affect the inner cell mass which becomes the baby, and minimizes the potential risk to the embryo while still reflecting its genetic status. Following PGD (Pre-implantation Genetic Diagnosis) for a single gene disorder, affected embryos can be cryo-preserved to await therapeutic interventions of the future, and non affected embryos can be transferred for pregnancy attempts. PGS (Pre-implantation Genetic Screening) can evaluate chromosome number and identify aneuploidy (extra or missing chromosomes) or the presence of a translocation or inversion, in the biopsy of the embryos. Fewer viable embryos can be transferred at a time resulting in a lower miscarriage rate, higher birth rate and lower multiple pregnancy rate. This can increase the chance of a healthy, low risk pregnancy and birth per IVF attempt in couples for whom PGS is indicated.
Finally, the option for patients who are candidates to use our Shared Risk Program for IVF or Egg Recipients allows couples to proceed through two or three cycles, and any frozen embryo cycles at a predetermined low cost until they either obtain a live birth or receive a significant refund on their payments. This program has helped thousands of couples access this care even though many have coverage excluded from their insurance.
Infertility has been defined as a disease, as undesired and life changing as any other disease. With early referral, new technology and appropriate intervention the chances of overcoming infertility have greatly improved.
Kathryn L. Honea, MD is the founder of the ART Fertility Program of Alabama where she has served as Medical Director from 1986 to 2012.