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The Fibromyalgic Pregnancy and Beyond - Risk Results and What Happens Next

Risk Results and What Happens Next

If you are identified as being at increased risk of carrying a baby with whichever of these syndromes is named next to the risk result then you will be offered an appointment to discuss your options; one of which will be an amniocentesis. An increased risk result does not mean that your baby definitely has this syndrome but it tells us that further testing should be offered to help us provide you with more detailed information. You will be given an appointment to discuss this test before it happens and further information to read.  Only a small number of women who are in the higher risk group will be pregnant with a baby who has Down’s, Edward’s or Patau’s syndrome.

With an increased risk for AFP result, an ultrasound is usually done to determine your baby’s age, look for more than one baby or scan for neural tube defects and other abnormal conditions, which may also be responsible for the elevated test. If the ultrasound shows a single baby at the approximate age determined by the initial due date with no abnormalities, an amniocentesis will be offered.  An abnormally high level of AFP in the amniotic fluid indicates a 90 percent chance that a serious problem is present. An abnormally low AFP reading may indicate that there is a chromosomal problem. If you are identified as being in the lower risk group for Spina bifida, Down’s, Edward’s or Patau’s syndrome it does not guarantee that your baby will not have these syndromes, it just means you have lower risk of this.

The lower the number, the higher the risk 

So, for example, 1 in 180 is a higher chance than 1 in 400 of your baby having an abnormality. Please try to keep in mind that even with a 1:4 chance (25%) chance of an affected baby; you still have a higher chance of a healthy baby than one who has the condition you have been screened for.

Diagnostic Testing (Yes or No answers)

Screening options, as described above, give healthcare practitioners a baseline to judge if it is appropriate to offer you a diagnostic test with its associated risk of miscarriage. A diagnostic test can give you a yes or no answer in relation to whether your baby has a chromosomal abnormality. It can not promise that your baby is perfect as it can’t detect structural defects, though detailed scans can pick up many major structural defects.

Before you decide to have any diagnostic test you must make a decision about how you will feel if you are told your baby has an abnormality and what steps you may wish to take, as a termination of your pregnancy will be offered even though many chromosomal abnormalities are compatible with life. You will need to consider how you would care for and cope with, a disabled baby, child and eventual adult if you chose this option instead of termination.

Amniocentesis

An amniocentesis involves withdrawing and testing a small amount of the amniotic fluid surrounding your baby (foetus). It provides very reliable information about: 

  • Rhesus disease or other blood incompatibilities between mother and baby
  • chromosomal abnormalities
  • certain defects related to abnormal brain and spinal cord
  • the sex of your baby (if you do not wish to know please tell your midwife or doctor).

 Amniocentesis is generally performed in conjunction with ultrasound to prevent injury to the baby, the cord and placenta. You shouldn’t be concerned about the loss of amniotic fluid as only a small amount is withdrawn and your body rapidly replaces it with no harm to the baby. This fluid contains cells that can be grown in a laboratory where they can be examined and tested. The timing of this procedure will vary depending upon the initial reason for evaluation. For example, to look for chromosomal abnormalities an amniocentesis is done at about 16 weeks of pregnancy. It checks the number of chromosomes (which carry the genetic code) to see if the number and pattern is normal.

 Amniocentesis is considered 99.5% safe but does carry an associated risk of miscarriage. The national rate for associated miscarriage averages around 1:100, and therefore it is not offered as a routine test. It is performed only to detect a highly probable medical problem; for example from  an increased risk factor calculated during the first trimester combined screening.

 The actual procedure requires you to have a moderately full bladder (yikes) and to lie still for at least 20 minutes. For many people with FM this means cramps at worst, twitching muscles and stiffness at best. However, you must try to endure the discomfort of maintaining one position as the test requires quite precise positioning of the needle. The needle itself is only in place for a few seconds before it is withdrawn, leaving behind a thin plastic tube through which the fluid is drawn up. If you have negotiated an agreement with your doctor that you can move at some point during the amniocentesis, then this will be the time when he is most likely to encourage you to shift slightly to ease those muscles. If your partner has FM then try not to squeeze too hard when offered a comforting hand to hold or you may do some damage to the fingers clutched in yours!

 Chorionic Villus Sampling (CVS)

CVS involves obtaining a sample from your placenta for chromosome or DNA analysis. Chorionic villus refers to the part of the placenta that attaches it to the lining of the uterus or womb and it is from this area that placental tissue is removed to perform the chromosome test.

 CVS is usually offered to women who already know they are at risk of having a baby with a genetic disorder. A genetic disorder is an inherited condition that is carried in the family, such as muscular dystrophy or cystic fibrosis. CVS may also be useful for women who have had a baby with a chromosomal disorder such as Down’s syndrome or are at increased risk because of their age, although most women have amniocentesis to test for these disorders. The only advantage of CVS over amniocentesis for chromosomal disorders is that the results are available earlier in the pregnancy. CVS is usually done between 10.5 and 13 weeks of pregnancy although there are situations where it is performed later.

 About 1 in 50 women who have the test will have a miscarriage. About half of these are due to the test itself and the other half would have happened anyway, but it is often impossible to be sure of the cause. There have been a small number of reports in medical journals that CVS may be linked to the risk of limb abnormalities and that this may be more of a risk if the CVS is done before 9 weeks of pregnancy. However all CVS tests are followed up by a full detailed anatomy scan at 20 weeks to check your baby.

 During The Trans Abdominal CVS (through your tummy)

If the doctor chooses to use the trans abdominal approach, your abdomen will be cleaned with antiseptic and a local anaesthetic may be injected into the area where the sampling needle is to go. The sampling needle is then put in and guided into the placenta. This part of the test usually lasts less than a minute but will undoubtedly feel much longer to the person who is having it done to them. This method may be most suitable for women with FM who suffered heavy periods and cramping before pregnancy or those who have a tendency to suffer from cervical spasm.

 During The Trans Cervical CVS (through the neck of your womb)

If the doctor chooses to use this method because of the position of your placenta, a speculum will be inserted into the vagina to help the doctor to see your cervix. This is the same instrument that is used when you have a cervical smear. A very thin instrument (forceps) is passed along the cervical canal into the placenta to take a sample. In both cases the test is done with the help of an ultrasound machine so that the needle or forceps can be correctly positioned at all times.

 Test results

The test results can take anywhere from 3 to 14 days to come back depending upon which technique is being used. The stress of this wait is unavoidable and the result cannot be rushed although some hospitals will allow you to send a sample away privately for rapid (3 day) testing. However this result only reports on Down’s, Edward’s and Patau’s syndromes, you will still need to wait the full 14 days for the complete chromosomal report. This may put you, your partner and your relationship under considerable strain, so beware those of you who have stress triggered flare ups and try to put into place whichever relaxation techniques work best for you.

If you have heavy bleeding and/or severe cramping pains (or any pain that you wouldn’t normally associate with a FM flare up) you should contact your maternity hospital immediately.

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