Handling Heartbreak: Genetic Disorders and Surrogacy

Fortunately, technology has advanced to the point of helping identify many genetic disorders —which can result in implantation failure, miscarriage, and birth defects in a resulting child—thanks to pre-implantation genetic testing. Egg and sperm providers are also thoroughly tested and screened to help reduce the likelihood of any irregularities during pregnancy. These safeguards, however, can never eliminate all risks. Here are some of the common genetic disorders that might be discovered during the course of the pregnancy:

• Down syndrome: Down syndrome is a genetic disorder caused by an extra copy of chromosome 21. It can cause intellectual disability, developmental delays, and other health problems.
• Cystic fibrosis: Cystic fibrosis is a genetic disorder that affects the lungs, pancreas, and other organs. It causes thick mucus to build up, leading to breathing problems, lung infections, and other complications.
• Tay-Sachs disease: Tay-Sachs disease is a rare genetic disorder that affects the nervous system. It can cause developmental delays, seizures, and other health problems.
• Sickle cell anemia: Sickle cell anemia is a genetic disorder that affects the red blood cells. It can cause pain, fatigue, and other complications.
• Hemophilia: Hemophilia is a genetic disorder that affects the blood’s ability to clot. It can cause excessive bleeding, joint damage, and other complications.
• Spinal muscular atrophy: Spinal muscular atrophy is a genetic disorder that affects the muscles used for movement. It can cause muscle weakness, developmental delays, and other complications.
• Fragile X syndrome: Fragile X syndrome is a genetic disorder that affects the X chromosome. It can cause intellectual disability, behavioral and emotional problems, and other health issues.

Once again, the best safeguard against genetic disorders during pregnancy is to conduct pre-implantation genetic testing on all embryos you hope to transfer during an IVF cycle. The truth is this testing helps eliminate many risks and reduces the likelihood of your surrogacy carrying a child with a genetic disorder far below those conceived outside of assisted reproductive technologies.  A preimplantation genetic diagnosis can help identify over 400 different disorders, in fact, including most of the above disorders. Testing can even look for the genes that make it more likely that your baby will develop a specific disease—PGT can identify BRCA-1, for instance, which predisposes those with the gene to breast and ovarian cancer.

Still, testing doesn’t eliminate all risks. If your baby is diagnosed with a genetic disorder in utero, first remember that you are not alone in the process—your surrogacy team is there to support you and help you decide your best course of action. Here are some steps to take after learning of your child’s diagnosis:

• Develop your support system: You will want to ensure you have loved ones, including friends and family members, notified of this difficult news and are ready to serve as your support system. Again, your surrogacy team is also there to support you and provide both emotional and logistical guidance.
• Research: You will want to read up on your baby’s specific diagnosis to learn more. Some genetic illnesses will mean your baby is not likely to make it to full term. Others might mean your baby will need extra support. Speak with your medical team and ask for additional resources to learn more.
• Learn about treatment options: Depending on the specific genetic disorder, there are sometimes treatment options available that can help improve your baby’s quality of life. You will want to discuss these options in detail with your healthcare provider while deciding your best course of action.
• Decide on the Best Course of Action: Well before your baby’s diagnosis, your surrogacy agency should have prompted you and your partner to discuss the subject of abortion in detail—along with specific instances of when you would or would not pursue the procedure. You should have been matched with a surrogate who holds similar views. There is no right or wrong decision—it is an entirely personal decision that you, your partner, and your surrogate will need to make together.
• Prepare for the future: If you decide to move forward with the pregnancy, despite any risks, you will want to make long-term plans that will help support your baby—as well as you and your partner if you have one. This can include finding long-term health care providers and resources, financial planning, modifications to your home, and tapping into support groups and networks of other parents with similar experiences.