PKD Life - Summer 2020 - 21

Eric Leabo, who
died in 2013
at age 9 from
complications
of ARPKD, with
brother John;
Sarah and
Elizabeth Cox.

says. "The most important thing is to
take your time and meditate on the
questions that come up," she says.
"For example, what happens if we get
divorced and there are frozen embryos?
Who gets them?"
Age adds a possible barrier to conceiving. "If a female patient is older, especially
approaching or over 40, and you're looking at a disease like PKD, which quite
often will affect 50% of the embryos, you
have to deal with the challenge that at the
same time 50% will be abnormal due to
the effects of age," Dr. Souter says.
Leabo, who was 35 when she underwent IVF, ended up with six viable
embryos. But five of them tested positive
for PKD. "It was a bit of a miracle that the
one worked," she says. (She later conceived her "surprise baby" on her own;

born without PKD,
Anna is now 6.)
Freezing
embryos early, say,
in a couple's late
20s or early 30s, is one way to bypass
this challenge. "Potentially, they could
undergo the procedure, biopsy their
embryos, cryopreserve them, and keep
them frozen to use in the future," Dr.
Souter says.
Sometimes the genetics laboratory
is unable to identify the mutation
responsible for a family's PKD. "Even
with all of the genetic testing available, we are unable to find the specific
mutation in some PKD families," says
Rachel Full, M.S., C.G.C., a genetic
counselor at NorthShore University
HealthSystem in Chicago. "And if we
don't know what the mutation is, we
can't test for it."
A big drawback to IVF and PGT is
the cost of these procedures, which
isn't always covered by insurance.
One cycle of IVF without PGT can cost
around $10,000 out of pocket, with
PGT adding another $5,000. Fertility
drugs can also add another $4,000.
Check with your insurer if you are
unsure about your coverage.
Keep in mind that although the
technique is usually successful, there
is a slight-around a 1% chance-that
it will provide an incorrect result. "We
are only taking a few cells from the

embryo, and it could be that the few cells
that we took don't accurately represent
the entire embryo," Dr. Souter says.

PRENATAL DIAGNOSIS

To avoid a surprise PKD diagnosis, women
who are pregnant are advised to consider
prenatal diagnosis, which helps to find
genetic disorders before birth. The two
main methods are chorionic villus sampling (CVS), which involves testing a sample of the placenta, and amniocentesis,
which tests the amniotic fluid, Full says.
Typically, CVS is done at 10 to 13
weeks' gestation, and amniocentesis is
done between the 15th to 18th weeks of
pregnancy. The results could make a difference in whether a couple decides to
continue a pregnancy.
"They are invasive procedures,"
Full adds. "So there is a very slightly
increased risk of miscarriage that's associated with them."
Whatever family-planning decisions a
couple is making, Full recommends they
schedule an appointment with a genetic
counselor who specializes in preconception/prenatal genetics. "There are a lot of
factors to weigh," she says. "It can be helpful to have options laid out for you and
get a referral to the appropriate clinic."
Although PGT was challenging in
myriad ways, Leabo is happy that she
went through it. "I'm profoundly grateful that this technology exists," she says.
"It's changed everything for us."

PREGNANCY
Eggs are
retrieved
and
fertilized

Embryos
are tested
for genetic
mutations

PKD-free
embryos
are
transferred

Pregnancy
test is done
12-14 days
later

P K D C U R E .O R G

http://www.PKDCURE.ORG

PKD Life - Summer 2020

Table of Contents for the Digital Edition of PKD Life - Summer 2020