PKD Life - Summer 2020 - 20

then the doctor takes a sample of each
to send to the genetics lab for testing
against the identified mutations.
Typically, the embryos are frozen
while the testing takes place. Results are
usually available after 10 to 15 days. "At
that point, we will know which embryos
are free of PKD," Dr. Souter says.
Before transferring these embryos,
women often take hormones to prepare the uterus to accept them, though

"sometimes, we just follow a woman's
natural cycle," Dr. Souter says. "From
that point on, we would usually expect
the pregnancy to proceed just like
every other pregnancy that was conceived spontaneously."

OTHER CONSIDERATIONS

Families who are considering PGT
should keep in mind that the process
will present ethical dilemmas, Leabo

PGT AND IVF
TIMELINE

While the actual IVF/PGT cycle takes
approximately 2 weeks to complete, the
steps leading up to it can take anywhere
from 4 to 6 months.

PKD LIFE * SUMMER 2020

Comprehensive
preconception
evaluation and
screening

Genetic
testing
of family
members

Ovaries are
stimulated
to produce
multiple eggs

SPECIAL THANKS TO THE COX AND LEABO FAMILIES
FOR ALLOWING US TO USE THEIR PERSONAL PHOTOS.

parents but also from their parents,
children, siblings, and/or other
relatives with the disease. At the
couple's request, the lab may also
test for other genetically determined
conditions, particularly those related
to aneuploidy (a condition that is
related to extra or missing chromosomes) that may cause failure of the
IVF cycle, a miscarriage, or lead to
the birth of a child with a disability.
The genetic probes are generally
available from six to 12 weeks later.
"Once they have these genetic tools,
they give us a green light to proceed
with in vitro fertilization (IVF)," Dr.
Souter says. "From the time we see
the patient for the first time until
they're actually proceeding with IVF,
it's from four to six months."
IVF involves stimulating a woman's ovaries with medications over
a period of 10 to 12 days to allow
multiple eggs to mature simultaneously. Women are monitored with ultrasound and blood tests during the process
until the eggs have matured enough to
be harvested.
These mature eggs are suctioned
through a thin needle through the vagina,
under ultrasound guidance, while the
woman is lightly sedated, Dr. Souter says.
The process takes about 15 minutes.
The eggs are then injected with her
partner's sperm. The embryos that result
are put in culture for five to six days and

PKD Life - Summer 2020

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