Genetic Carrier Screening Testing:
When you start thinking about having a pregnancy (or when you find out you already are pregnant) you should check the family history of both yourself and your partner. If there is a significant history on either side of babies being born with malformations or of inherited genetic conditions, you should seek advice about this as soon as possible, ideally before you become pregnant. Your Doctor should be able to refer you for Genetic Counselling if necessary.
Furthermore, whether or not you have a specific family history of such problems, it is now possible to offer couples screening for the risk of having a child with a large variety of inherited abnormalities. These abnormalities can happen “out of the blue”, even if there is no history of that problem in the family. This is particularly the case for genetic conditions inherited in a “recessive” manner, like Cystic Fibrosis.
One such method of screening is now offered by SONIC GENETICS Pathology; they offer two options:
“SONIC Carrier Screening Panel” (CF, SMA and Fragile X): This screening test costs $385.00 for each partner, or $770.00 for both partners.
“SONIC Beacon Expanded Carrier Screen” (tests for about four hundred genes, including CF, SMA and Fragile X): This screening test costs $595.00 for each partner, or $1,190.00 for both partners.
As noted, these tests are not inexpensive at present and there is NO MEDICARE REBATE for these tests as yet. However, these tests can provide very valuable information to a couple to assist with their pregnancy care.
Accordingly, the RANZCOG now makes the following recommendation: “Information on carrier screening for (other) genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy. Options for carrier screening include screening with a panel for a limited selection of the most frequent conditions (eg. Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome) or screening with an expanded panel that contains many disorders (up to hundreds)”.
If you wish to do either of these tests, it is best to do this BEFORE pregnancy, so that any issues uncovered by the results can be discussed in detail in a timely fashion. Links to SONIC information brochures about these tests are given below. If you wish to see Dr Stephen O’Callaghan for private Obstetric care, ask your GP to refer you to him at Darwin Private Hospital for a Pre-Conception Counselling visit.
SONIC Reproductive Carrier Screening Test (CF, SMA and FXS)
SONIC Expanded Reproductive Carrier Screening Test
A Patient Information Sheet about this sort of testing from the NSW Genetics Advisory Service can be found here.
NB. These tests are completely different from the NIPS tests sometimes done in early pregnancy to screen for Down Syndrome and other similar conditions (Trisomies).
PLEASE NOTE THAT DUE TO THE TIME INVOLVED IN TRANSPORTING SAMPLES OVERSEAS AND SO ON, IF THIS PROCESS IS COMMENCED DURING PREGNANCY, THE SAMPLES FOR TESTING FROM BOTH PARENTS MUST BE ABLE TO BE COLLECTED BY ~ TEN (10) WEEKS GESTATION; OTHERWISE IT WILL BE TOO LATE AND THIS SCREENING TEST MAY NOT BE POSSIBLE.