Reproductive Options for AADC Deficiency Carriers

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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If you know you are a carrier for aromatic L-amino acid decarboxylase (AADC) deficiency, you may have already spoken to a genetic counselor about your risks of passing the disease on to your children and your reproductive options. Carriers of a genetic disease have a single copy of a disease-causing mutation. They usually do not have any symptoms.

AADC deficiency is a recessive disease. This means that a child must inherit two copies of a disease-causing mutation (one from each parent) to develop it.

If your partner is not a carrier of a disease-causing mutation, it is very unlikely that your children will develop AADC deficiency. However, they will have a 50% chance of being carriers like you.

If you and your partner are both carriers, you may want to consider your reproductive options. Talk to your doctor and a genetic counselor to determine which method would be best for you and your partner.

Prenatal diagnosis

If both you and your partner are carriers of AADC deficiency, you can request a genetic test of your baby before birth. For this, doctors need to collect genetic material from the fetus. There are two main means to do this: amniocentesis and chorionic villus sampling (CVS).

In amniocentesis, the doctor collects a sample of the amniotic fluid (the fluid that surrounds the fetus in the uterus) by inserting a syringe needle into the mother’s abdomen. The amniotic fluid contains cells from the fetus, which can provide the material for genetic testing.

In CVS, doctors collect a sample of the placenta by inserting a needle either through the mother’s abdomen or vagina.

Genetic testing can determine whether the fetus has mutations that may cause AADC deficiency.

In vitro fertilization

In vitro fertilization (IVF) is a process in which sperm cells fertilize egg cells in a laboratory to form an embryo. Doctors then implant the embryo into the mother’s uterus.

IVF can be done with reproductive material from you and your partner. Alternatively, you can request donor egg, sperm, or both to prevent the possibility of the child inheriting AADC deficiency. As long as the donors are not carriers of AADC deficiency, the child will not inherit the disease.

Pre-implantation genetic testing

If you choose to use your own egg and sperm in an IVF procedure, embryos can be screened for AADC deficiency prior to implantation. Doctors can take a few cells from each embryo for genetic testing. You can choose to implant embryos with only one copy of a disease-causing mutation (making them carriers), or no copies of these mutations.


Last updated: June 24, 2020


AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.