Big life decisions
I went to the doctor this week because during my routine 19 week ultrasound, they found a “bright spot” in one of the baby’s heart chambers, or aka echogenic focus.
Because of this finding I was told that my risk of having a baby with down syndrome goes up to about to 1 in 750 (which in my books, is still pretty good odds – not perfect but good). I was given the option of Amniocentesis, a procedure described below.
According to the notes on my prenatal chart, in Canada they offer this to woman who have odds that are greater than 1 in 1000 an option to get Amnio to find out if the baby has any genetic issues such as down syndrome / spinal bifida etc.
Ask an OBGYN research on Amniocentesis states:
Many women undergo the agonizing decision of whether or not to have an amniocentesis in pregnancy. An amniocentesis is when your doctor uses a long, small caliber needle to go through the abdomen, into the uterus, through the bag of water and into the amniotic fluid around the baby. Amniotic fluid, about 20 cc, is then abstracted and tested for various reasons. Ideally the needle never goes near the baby, however sometimes babies kick, and this is rarely known to harm the fetus. In fact, your doctor will be very careful to avoid areas of fluid near the face, eyes, and heart for this reason. In general, harm to the fetus is not considered to be one of the major amniocentesis risks.
No one is ever told they must have an amniocentesis. However, there are many situations when, given the concern of chromosome disorders, it is suggested. Such situations are:
· Advanced maternal age, over 35, with maternal desire to have definitive testing for chromosome abnormalities.
· Abnormal Down syndrome screening, such as alpha fetoprotein or AFP, quad screen or nuchal translucency.
· Abnormal second trimester genetic ultrasound suggesting possibility of chromosome abnormality.
· Prior child affected by a major chromosome disorder.
· Known genetic mutations the fetus is at risk for (for instance, sickle cell anemia or cystic fibrosis).
Unfortunately, there are risks of pregnancy loss. The most common complications are rupture of the bag of water, labor, infection and bleeding. Fetal injury rarely occurs. When one of these complications occurs, most often the pregnancy will be lost within several days of the procedure. In some cases, however, the bag of water can reseal. Obsetricians and Perinatologists performing undergo special training to be permitted to do such procedures.
The loss rate for the pregnancy has traditionally been quoted to be approximately 1: 200 procedures. More recent data, however suggest the risk of amniocentesis is actually substantially lower in the modern era of ultrasound and using modern techniques. Two recent trials have substantiate this claim. The FASTER trial was a large study of over 35,000 women that suggested the pregnancy loss rate of baseline loss rate was actually more like 1: 1600 or 0.06%. In another recent publication by Odibo, they determined in over 51,000 procedures they loss about 1: 769. This again is far less than traditionally quoted loss rates, and should be reassuring to patients contemplating such procedures.
When a patient is contemplating amniocentesis, risks and benefits must be considered. Amniocentesis is definitive, it states “yes” or “no” to whether the baby has Down Syndrome, unlike nuchal translucency testing, alpha fetoprotein (triple or quad) screening, and ultrasound for anatomy. Of course, this is very important. Many times women want the option of pregnancy termination, and therefore must know for sure if the fetus is affected. Other times, they may not be considering termination of the pregnancy, but simply want to stop worrying or know for sure to prepare. A mathematical benefit to amniocentesis in that setting cannot be assessed, but is very real.
Amniocentesis also places the pregnancy at some risk, and hundreds of pregnancies are lost every year because of invasive testing. This risk is small, as above, but absolutely needs to be considered heavily prior to proceeding forth with invasive testing.
After all these findings and given the pros/cons of this procedure procedure and my current situation, I decided that because I could never abort this baby at 22+ weeks, and because the odds of not having a down syndrome baby was immensely greater than having one, I am opting not to do amnio. Even though it was recommended by my family doctor, I am going with my instincts on this one, and going through this pregnancy in blind faith. If God has chosen this path for me, there must be a lesson to be learned and I will love this baby no matter what. This was both decided by the baby’s daddy and I. Having a supportive partner sure helps when making decisions like this. Make sure you talk it out and do your proper research when it comes to invasive procedures such as this one.
Note: One huge deciding factor for me not going through with Amnio had to with finding out some things about the Echogenic focus or “Bright Spot” or “EFLV”:
1) This is a very common finding, affecting about 5% of the fetal population. In fact, as many as 30% of Asian women with have this finding.
2) I have no other “soft” indicators for Down Syndrome beisde this one.
3) EFLV’s are present in 4-5% of the normal population, it is present in approximately 7-8% of a Down Syndrome fetuses.
4) 50% of fetuses with Down Syndrome are completely without any signs, and therefore we have to be cautious when a soft marker is seen.
5) When fetal chromosomes are normal, an echogenic focus of the left ventricle has no clinical importance whatsoever. It is not a fetal cardiac defect, and requires no additional follow-up imaging or studies.
Good luck if you have to make a decision such as this one. I know it is not easy. Trust you instincts. You know what is best for you.
Source: AskanOB.com & other related websites.
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