Family Planning and Genetic Counseling

Family planning decisions are intensely personal, emotional, and unique to each couple. There are many factors that influence any couple’s decisions regarding children. When a family history of Alport syndrome exists, there are often additional concerns. The potential for a couple’s children to be born with Alport syndrome depends partly on the type of mutation in their family, as noted on the Genetics page. While the internet can be a great resource, people who are anxious about Alport syndrome and pregnancy are strongly encouraged to meet with a licensed genetic counselor who can understand their personal concerns and discuss their reproductive options.

The explanations listed below are intended simply to provide a starting point for understanding available choices.

Preconception
In-vitro fertilization (IVF) involves combining an egg with sperm in a laboratory dish and then transferring the embryo to the uterus where it will hopefully develop. By using a sperm or egg donation instead of the sperm or egg of the affected parent, couples can eliminate the risk of passing on the gene for the mutation. States vary in the amount they require insurance companies to cover to offset the cost of IVF.

Pre-implantation genetic diagnosis (PGD), is an additional step that may be done with IVF. This entails going through IVF using eggs and sperm from the parents, and then before the embryos are implanted they are tested for the known familial mutation. Only embryos without the mutation are implanted. Both PGD and CVS/amnio (below) require knowing the familial mutation ahead of time. To do PGD, couples work with a reproductive endocrinologist. PGD is very expensive. 

Prenatal testing
Chorionic villus sampling (CVS) is done from 10-13 weeks and amniocentesis is done from 16-20 weeks. Both are invasive ways to test the pregnancy for the known mutation. Being invasive means that they carry a risk of miscarriage due to the procedure. The national average risk is 1/300-1/500. People typically pursue CVS or amnio to determine if the pregnancy is affected for one of two reasons: either to terminate the pregnancy if the child is affected or to prepare and adjust to expecting an affected child. Couples considering these options will typically work with a prenatal genetic counselor and physician who performs the procedure, such as a maternal fetal medicine specialist.

No Preconception or Prenatal Testing
Many couples will choose to only test their child(ren) for genetic mutations after birth.

Adoption
Some couples concerned about passing on a genetic condition to biological children may choose to adopt to eliminate the chances of having an affected child.

Again, couples are strongly urged to meet with a licensed genetic counselor to discuss their individual situation and options in greater detail.


Finding A Genetic Counselor
The National Society of Genetic Counselors has a “Find a Genetic Counselor” tool on their website that allows people to search for local providers. It shows each genetic counselor’s specialty, which could be useful as some people have never met with a genetic counselor, while others may have met with a clinical/pediatric genetic counselor but now wish to discuss or pursue one of the above options and therefore should meet with a prenatal genetic counselor.

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