Preimplantation Genetics/Embryo Screening

Solutions to Infertility: Preimplantation Genetics and Embryo Screening

Bearing children is considered a rite of passage that is highly valued by cultures all over the world. As a result, not being able to bear children can cause significant stress in individuals and relationships. The caring specialists and staff at Atlantic Reproductive Medicine Specialists understand this and offer you the support you need to build the family you have always wanted. Paradoxically, most couples take their fertility for granted and are surprised when infertility is recognized when in reality, one couple in six experiences a cause of infertility that requires assistance.

Navigating the optimal path of diagnostic testing and treatments for a couple requires a highly personal and individualized approach. The endocrinologists at Atlantic Reproductive Medicine Specialists want to help you understand the subtleties of your own situation and options so that you can actively participate in planning your care each step of the way. After learning about the basics of human reproduction and embarking on appropriate diagnostic steps, you and your provider can formulate short- and long-term plans matching your values and resources.

Causes of infertility

Infertility is not being able to conceive after one year of unprotected sex.  However, all humans are relatively inefficient at reproduction; figuring out if you have a problem and where the problem is can be challenging.  It is common for both men and women to have issues that lower the probability of becoming parents. The causes of infertility in women and men are influenced by a variety of factors. One way to categorize some of these issues is to think of them in terms of anatomy, environment, health, and lifestyle.

  • Some examples of the physical issues associated with fertility on the macroscopic level are blocked ducts (fallopian tubes in women and vas deferens in men), ovarian cysts, uterine fibroids, etc.  On the microscopic level, there can be problems with sperm, eggs, genetics, etc.
  • Environmental causes of infertility may include rare exposures to environmental hazards such as heavy metals or, more commonly, known exposures to medical treatments that have known adverse reproductive consequences.
  • Health-related issues can include hormonal imbalances, sexually transmitted infections, chronic disease, etc.
  • Lifestyle factors like smoking, obesity, excessive weight loss, aging, stress, and use of anabolic steroids and other drugs may cause infertility.

However, these attempts at categorizing are somewhat artificial because, as you can see, these issues clearly overlap and interrelate.  During your initial and ongoing fertility assessment, all of these and others factors will be considered and reconsidered in helping you plan your care.

Fertility treatments

The most comprehensive fertility treatment is in vitro fertilization – also known as IVF. IVF essentially fixes every problem we know how to fix by controlling the meeting of the sperm and the eggs and early embryo development while ensuring that the embryos get into the uterine cavity where they will implant.

IVF is a 5-step process, briefly outlined below:

  1. Ovulation Induction: Prior to IVF, you take a series of medications designed to stimulate the recruitment of several healthy eggs. Because sperm, eggs, and early embryos can make mistakes in cell division, starting with more than one egg and embryo increases the probability of success.
  2. Egg Retrieval: Once a cohort of mature eggs develops, the woman is sedated with intravenous medications, and her eggs are harvested through a process similar to drawing blood.
  3. Insemination and culture: An embryologist finds the mature eggs in the harvested fluid and introduces them to sperm either by culturing sperm and eggs together or by inserting one sperm into each mature egg through a process called ICSI. The fertilized eggs are then kept in an incubator for 5-6 days when they develop into blastocysts.
  4. Preimplantation Genetic Screening: The blastocyst is the last stage of embryo development before embryos attach to the uterine lining.  The blastocyst is an ideal stage of development for genetic testing because the embryologist can see the trophoblast cells (future placenta) and the inner cell mass (future baby).  Knowing that the genetics of the placenta and inner cell mass should be the same, a small sample of the cells can be removed from the future placenta without harming the future baby.
  5. Embryo Transfer: After 5-6 days in culture, the fertilized eggs are placed into the womb or vitrified (frozen) for later transfer.

Screening for Genetic Defects

Atlantic Reproductive Medicine Specialists offers preimplantation genetic testing to screen for aneuploidy (mistakes in cell division that are not compatible with life) or known genetic diseases that are present in a family.  This testing increases the probability of having a successful pregnancy and a healthy baby.

How Our Lab Screens for Genetic Defects in Embryos

Embryo screening and preimplantation genetics refer to genetic tests that allow the identification of possible genetic defects in embryos. Once an embryo has progressed to a blastocyst, a small number of cells can be safely removed from the trophectoderm (the part of the embryo that is the precursor to the placenta).  These cells are sent to our affiliated genetic testing laboratories for analysis while the embryos continue to be cared for here in Atlantic’s laboratory.

The cells from the embryo biopsy are then tested to identify if the embryo is euploid (normal number of chromosomes of 46 with 23 obtained from each parent) or aneuploid (abnormal number of chromosomes).  If other heritable conditions are suspected (such as cystic fibrosis or sickle cell disease) in cases where both parents are carriers of these diseases, additional testing can be planned to identify the embryos free from these tested conditions.

Atlantic Reproductive uses the following labs for genetic testing:

Schedule an Appointment at Our Raleigh Fertility Clinic

Many issues can impact fertility in both men and women.

Embryo screening is a critical part of the in vitro fertilization process, which helps to increase the likelihood that your baby will be born healthy and disease-free. To discuss these preimplantation options with our fertility doctors, call us at (855) 248-8777 — we’re currently accepting new patients!

Atlantic Reproductive is home to compassionate doctors available to patients from Raleigh, Durham, Cary, Chapel Hill, Fayetteville, and beyond.