Reproductive Options

There are many different reproductive options for people who are at increased risk to have a child with dystrophinopathy. Reproductive options can differ in how a pregnancy is conceived and what tests are used to assess for genetic risks. A person or couple’s specific risks and options should be discussed with their healthcare providers, such as their obstetrician, genetic counselor, and/or fertility specialist. Working with a psychologist or therapist is also an option. Reproductive choices are highly personal, and there is no specific right or wrong way to handle a reproductive health risk. Instead, a person or couple can choose what options feel best for them in consultation with their medical providers and trusted support systems, which could include family, friends, religious guidance, and more. 

Learn more about inheritance and risk estimation.

NATURAL CONCEPTION, WITH OR WITHOUT PRENATAL GENETIC TESTING

People who conceive naturally may choose to have genetic testing for the DMD gene variant after their child is born. Others may choose to have genetic testing for chromosomal sex or the DMD gene variant during the pregnancy.

There are two main types of diagnostic prenatal tests that can be used to test for the DMD gene variant: 

  • Chorionic villus sampling (CVS) is generally offered between the 10th and 12th weeks of pregnancy. In this procedure, a needle is used to remove a small piece of the placenta (called the chorionic villi) for testing. Since the placental tissue typically has the same genetic make-up as the fetus, the placental cells can be tested for the DMD gene variant.
  • Amniocentesis is generally performed starting at 15 weeks, and can be performed through the end of the pregnancy. In this procedure, a needle is inserted through the mother’s abdomen and into the amniotic sac. Some amniotic fluid is removed and the fetal cells that are floating in the fluid can be tested for the DMD gene variant. Because amniocentesis directly tests fetal cells, it has the highest accuracy among prenatal tests.
  • Both amniocentesis and chorionic villus sampling are considered invasive procedures, so both have some degree of pregnancy risk. Families considering these tests should discuss the risks and benefits with their doctor or genetic counselor, and request the center’s rate of complications and miscarriage.
  • Both amniocentesis and chorionic villus sampling are also able to test for chromosomal sex (male or female combinations of sex chromosomes) and potentially for other genetic conditions of concern.
  • Amniocentesis and chorionic villus sampling are most accurate when testing for a known familial variant. For families with a confirmed diagnosis of Duchenne, but where genetic testing has not identified a disease-causing change, linkage analysis using the genetic material taken from the chorionic villus sampling or amniocentesis may be available. Linkage analysis uses markers along the gene to determine whether the baby has inherited the “at risk” X chromosome. Linkage analysis is usually only available for families that have at least two affected males. This option involves blood draws from multiple generations, including the affected individuals, so discussing this option prior to a pregnancy is strongly encouraged.

Screening genetic tests performed on maternal blood samples also exist, and can provide information about the likelihood of male or female chromosomal sex. These tests are frequently called non-invasive prenatal testing (NIPT) or non-invasive prenatal screening (NIPS). They may screen for certain genetic conditions, but not necessarily for the DMD gene. 

ASSISTED REPRODUCTIVE TECHNOLOGIES AND PRE-IMPLANTATION GENETIC TESTING

Preimplantation genetic testing (PGT) combines in-vitro fertilization (IVF) with genetic testing, with the goal of implanting only unaffected embryos into the mother’s uterus. IVF involves taking egg cells from the biological mother and sperm cells from the biological father and creating embryos in the lab (“in vitro”). Cells from each embryo can be removed for genetic testing, and then parents can use the test results to decide which embryos to use. The ability to test for a DMD variant accurately can depend on a number of factors, including the availability of other family members to share a sample. For this reason, not all people have the option of testing for a DMD gene variant during preimplantation genetic testing. However, this testing can be used to screen for chromosomal sex. PGT is not considered 100% accurate, and prenatal diagnostic follow-up testing using chorionic villus sampling or amniocentesis is often recommended. The expected rate of accuracy for a person’s PGT test should be discussed with their fertility specialist. 

Sperm sorting technologies

Sperm sorting technologies have not been FDA-authorized in the United States, but might be used in other countries. Sperm sorting attempts to filter sperm based on weight, so that X-bearing sperm are separated from Y-bearing sperm, and sperm are selected to increase the chance of having either a daughter or a son, depending on the goal of the couple. However, sperm sorting cannot guarantee a child of a particular sex.

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) combines in-vitro fertilization (IVF) with genetic testing, with the goal of implanting only unaffected embryos into the mother’s uterus. IVF involves taking egg cells from the mother and sperm cells from the father and creating embryos in the lab (“in vitro”). Cells from each embryo can be removed for genetic testing (preimplantation genetic diagnosis or PGD) and only the unaffected embryos will be implanted into the mother’s uterus. Different women will have different numbers of embryos without the dystrophin gene mutation and will have different rates of success. Speak with your OBGYN or genetic counselor if you are interested in IVF and PGD. You will need to be referred to a reproductive endocrinologist. Please be aware that IVF and PGD are expensive technologies that are not fully covered by all insurance plans.

EGG AND SPERM DONATION

For a carrier female, conceiving a pregnancy with a donor egg from a non-carrier reduces the chance of having a child with dystrophinopathy. Males with Duchenne or Becker may consider using donor sperm. Sperm donation from an unaffected male reduces the chance of having carrier female children. When using donated eggs or sperm, it is important to understand what genetic conditions the donor has been screened for, including whether or not they have ever had DMD variant carrier testing.

Adoption

Adoption is also a way to grow a person’s family while changing the likelihood that a child may have dystrophinopathy.

TALKING WITH YOUR HEALTHCARE PROVIDERS

Many different types of healthcare providers can be involved in a person’s reproductive healthcare. When considering potential options, consider the questions you may wish to ask providers. These might include:

  • What are my options for reducing the chance of passing on a DMD gene variant? What would be my next steps for choosing one of these options? Depending on which option I choose, what is the chance I could have a child with dystrophinopathy?
  • What types of genetic tests can I consider before a pregnancy or during a pregnancy? How accurate are they? Do they have risks? Would follow-up or confirmatory tests be needed?