Genetics offers a glimpse into the roadmap that makes you who you are. By studying your genes, science can determine things about specific illnesses that may affect your overall health, what diseases you might be prone to and how you develop and grow throughout your life. Obviously many variables affect who you are, but the essential you–your hair and eye color, height and body type, along with your predisposition for developing heart disease or certain cancers–is all determined by your genetic makeup.

The genetic stories of both you and your partner are extremely important when you’re considering starting a family. Certain genetic predispositions may pose a significant risk to the health of your future child. That’s where genetic testing and counseling prior to pregnancy, or preimplantation genetic testing of your embryos, help you both understand any genetic complications that might befall a pregnancy.

Here we offer information about the role of genetics in growing your family and the tests and screenings available.

Where Do Our Genes Come From?

When you were conceived, you inherited 46 chromosomes–23 from your mother and 23 from your father. These chromosomes form your genetic makeup and also determine your sex at birth.

Your genetic information instructs your body in all its unique endeavors. There are instructions in your genes that tell your cells to produce molecules called proteins that keep you healthy. Because you inherit your genes from your biological parents, you may acquire some of their same health issues. These include heart disease, certain cancers, Alzheimer’s disease, osteoporosis and even obesity. And you may pass these genes on to your own child one day.

Genetic Disorders and Birth Defects

Your genetic makeup offers invaluable information when you start planning for a baby. Both you and your partner’s family health history provide doctors with an understanding of the risks your child may face. If your or your partner’s family history includes things like developmental delays, cystic fibrosis, birth defects or other genetic disorders, the risk for having a child with a similar disorder increases.

You May Be Referred for Genetic Counseling

Based on your family history, your physician may often refer you to a genetic counselor for more in-depth screening. This is especially true if you have experienced:

• Infertility (trying to conceive for one year without success or, for women over 35, trying to conceive for six months without success)
• Multiple miscarriages (two or more)
• Previous history of a child with a birth defect or genetic condition
• Loss of a child at less than one year of age (including stillbirth)

What Exactly is Genetic Counseling?

Genetic counseling takes a deeper dive into your genetics in an effort to help you understand how genetic conditions, birth defects and other health issues run in families, the risk they pose to you and your family, and how they affect your future baby’s health.

A genetic counselor assesses your health history and recommends a screening based on that information. The initial screening for both you and your partner is called a carrier screening and involves taking a sample of your DNA through blood, saliva or a swab inside your cheek, then screening it for any genetic predisposition that may affect your future child.

Based on the information obtained, you, your counselor and physician review the test results to determine the risk your child would have for developing a genetic condition. At that point, you are able to make some educated decisions about which path to pursue.

Some genetic conditions are more severe than others and could impact the life of your child or even your pregnancy in a devastating way. If you are considered high risk for specific conditions, including those listed below, your genetic counselor will suggest a targeted carrier screening. Certain conditions that run in families or those that are specific to certain ethnic groups include:

• Cystic Fibrosis
• Heart Defects
• Spinal Muscular Atrophy (SMA)
• Cleft lip or Palate
• Tay-Sachs
• Thalassemia
• Sickle Cell Disorder

Preimplantation Genetic Testing (PGT) with IVF

PGT is the screening test available for couples who undergo In Vitro Fertilization (IVF). This test provides vital information regarding the health of the embryos prior to implantation, specifically to assess your embryos for chromosomal abnormalities that could result in birth defects or loss of pregnancy.

One of the more common reasons for IVF failure relates to a genetically abnormal embryo. Through PGT you have the ability to select only the healthiest embryo for transfer.

PGT is only available as a part of your IVF cycle. Once your egg retrieval takes place and the lab fertilizes the eggs, they are observed as the cells multiply until the embryo reaches the blastocyst stage (on or about day 5 or 6 after fertilization). At that point, there are two separate identifiable sets of cells; those that make up the embryo and those that make up the placenta. The lab draws a few cells from the pre-placental cells only and sends them to a genetics lab where they are studied for any sign of chromosomal abnormality.

The results take about three weeks to come back, at which point your doctor will go over the findings with you and your partner. Your embryos are preserved in the lab until the results are in and your doctor schedules your embryo transfer.

Where to Go for More Information

Please know that the decision to pursue genetic screenings or PGT is a personal one that only you and your partner can make.

For more information on genetics and the role they play in your life and the life of your future child, please contact Halo Fertility. Our team of caring and compassionate professionals partner with you in finding the best way to achieve your goal of growing your family.