Early test for Down Syndrome first trimester

[Kreskin]

I think half of the problem is most go on a fairy tale pregnancy, buying cute little nursery items etal, and aren't prepared for anything other than a Ward and June Cleaver existance. When this happens they wish they had been more informed about available tests in trimester one.

 

[Ariadne]

I think half of the problem is most go on a fairy tale pregnancy, buying cute little nursery items etal, and aren't prepared for anything other than a Ward and June Cleaver existance. When this happens they wish they had been more informed about available tests in trimester one.

I think I'm at the opposite end of that spectrum but you may be right. I still think that mom's worry about whether there will be "10 fingers and toes" ... so much so that the phrase has been around forever and means that the baby will be healthy. Mom's always worry about it, but find a way to accept it during the pregnancy. I think dad's have a harder time with it. I mentioned the colleague with a DS child and I know that he couldn't even tell anyone for the longest time ... he was just filled with a tension and rage that I was completely unfamiliar with. When I learned the truth months later, everything made sense.

 

[Kreskin]

I think I'm at the opposite end of that spectrum but you may be right. I still think that mom's worry about whether there will be "10 fingers and toes" ... so much so that the phrase has been around forever and means that the baby will be healthy. Mom's always worry about it, but find a way to accept it during the pregnancy. I think dad's have a harder time with it. I mentioned the colleague with a DS child and I know that he couldn't even tell anyone for the longest time ... he was just filled with a tension and rage that I was completely unfamiliar with. When I learned the truth months later, everything made sense.

You're probably right that dad's may have a harder time. I think it's important that everyone take a serious look at life on that side before getting there. I hope that it's presented more as an information session, and if the worst case scenario is too life changing for the couple to handle they should at least consider a step or two to find out where they are headed while they still have some control in their lives. I would hope the OBGYN's don't just push everyone into it but instead offer the availability of these tests as part of an overall counselling/information session.

 

[Ariadne]

You're probably right that dad's may have a harder time. I think it's important that everyone take a serious look at life on that side before getting there. I hope that it's presented more as an information session, and if the worst case scenario is too life changing for the couple to handle they should at least consider a step or two to find out where they are headed while they still have some control in their lives. I would hope the OBGYN's don't just push everyone into it but instead offer the availability of these tests as part of an overall counselling/information session.

Doctors can be very convincing when women are pregnant. If the article states that doctors should be recommending the test for everyone, regardless of age or genetic predisposition, I think that's what will happen with the majority of conscientious couples (even if doctors are just covering their butts). Ultrasound was being introduced when I was first pregnant in the early 80s. I refused. My doctor also strongly recommended I take bendectin for nausea. I didn't take it and didn't tell him. He came to me a couple of years later and asked if I'd taken the drug because a high number of women in BC did take it and experienced a sharp rise in birth defects. Call me stubborn, but I didn't listen to my doctor. When another pregnancy came along and I was thrown into the high risk category, because I was over 35 and a couple of other irrelevant factors (only takes 3 to be high risk), I was told that if I was going to be properly cared for I had to cooperate and had to have an ultrasound at 9 weeks gestation. We all know that 9 weeks is the earliest that this procedure is even safe ... almost safe. I did what I was told ... and most women will.

As an overall counselling session, I think it should be presented as an option available to parents that are concerned about genetic abnormalities; I agree that the non-invasive screening techniques should be available to women at any age, but I don't think that they should be advocated for women of all ages.

 

[Curiosity]

Advice re pregnancies....

All options should be offered to the couple or mother at time of determination that a pregnancy has begun.

These should be in writing for her to read quietly after she is home because much of what is imparted at the doctor's office is forgotten in the ten minutes after leaving the facility.

Meds, exercise, diet, possible defects and their causes, genetics, and stress should all be discussed and all questions should be answered whether unpleasant or not.

Information is the kindest thing a couple can receive so they are prepared.

If a healthy child is conceived and birthed (I believe the majority is comprised of healthy babies), at least the parents to be have had time to do some alternate thinking and information gathering on their own...
even other specialists consulted.....to give them peace of mind.

Kreskin and his wife and Ariadne are great examples of modern parents who take care of business - through love of their child to be, by doing all they can to prepare. It isn't just buying a changing table and diapers is it?

 

[tracy]

I can see advocating this test as more useful in the United States where there are so many lawsuits from parents that give birth to unhealthy children. I can also see it useful where there is a family genetic history of diseases and abnormalities, but if people are not going to abort or blame their doctor when a child has an abnormality, it's pointless.

There is a very good reason to do prenatal testing even if you don't plan on aborting. Babies with Down's Syndrome often have other associated health problems, especially with their hearts. They should be born at hospitals with good sized neonatal intensive care units capable of doing cardiac surgery if that's the case. In Canada, most hospitals do not have the ability to do those surgeries. I've seen enough trainwrecks transferred in from smaller hospitals that just didn't know what they were doing and it's the baby that suffers. Ultrasounds in general are often useful for diagnosing problems early and that can result in lives being saved. I looked after one baby born with a diaphragmatic hernia who actually coded in post partum! If they had known about that condition antenatally he would have gone straight to the neonatal unit and to surgery. He survived, but we can't know what kind of long term damage he'll have from his adventure in post partum.

Even ignoring the benefits for babies, there are real benefits for parents. It's a LOT easier to deal with a health problem that you knew was coming rather than being blindsided when you give birth. Parents who know antenatally are able to get themselves informed and make contacts with doctors, other parents, support groups, etc.

 

[Ariadne]

There is a very good reason to do prenatal testing even if you don't plan on aborting. Babies with Down's Syndrome often have other associated health problems, especially with their hearts. They should be born at hospitals with good sized neonatal intensive care units capable of doing cardiac surgery if that's the case. In Canada, most hospitals do not have the ability to do those surgeries. I've seen enough trainwrecks transferred in from smaller hospitals that just didn't know what they were doing and it's the baby that suffers. Ultrasounds in general are often useful for diagnosing problems early and that can result in lives being saved. I looked after one baby born with a diaphragmatic hernia who actually coded in post partum! If they had known about that condition antenatally he would have gone straight to the neonatal unit and to surgery. He survived, but we can't know what kind of long term damage he'll have from his adventure in post partum.

Even ignoring the benefits for babies, there are real benefits for parents. It's a LOT easier to deal with a health problem that you knew was coming rather than being blindsided when you give birth. Parents who know antenatally are able to get themselves informed and make contacts with doctors, other parents, support groups, etc.

"Of the approximately 350,000 children born in Canada each year, most are born healthy and at term. However, 2%-3% of these babies will be born with a serious congenital anomaly.1"
http://www.phac-aspc.gc.ca/publicat/cac-acc02/index.html

I understand how prenatal testing can identify problems, however if 2-3% of the children have birth defects, then there are still 97-98% of birthing women that do not need the test. If the test were advocated for all birthing mothers, it would not only cost a lot, but it would subject a lot of healthy babies to an unnecessary intrusion. I'm all for providing information, but not for automatic routine testing.

No real concerns about ultrasound, but this is what I found:
"The safety of ultrasonography has been studied extensively. All medical procedures have beneficial consequences with risk for detrimental consequences. However, the important question is: what is the balance between the two?
Ultrasound does have bio-effects. Usually these are in some proportion to the amount of energy put into in the tissue, and high-intensity ultrasound can have the following effects:

• Cavitation: Very high negative acoustic pressures can cause temporary microscopic vacuum pockets. When these collapse, they produce very high local temperatures that can cause damage to the immediate region.
• Heat generation: Local tissue absorbs the ultrasound energy and increases their temperatures. Long-duration elevated temperatures above 41 C can damage tissue.
• Bubble formation: dissolved gases come out of the solution due to local heat increases

Heat and cavitation are the two primary known detrimental bio-effects and for this reason, the use of ultrasound is regulated by government agencies.
Ultrasonography is generally considered a "safe" imaging modality. However slight detrimental effects have been occasionally observed.
http://forums.canadiancontent.net/
Studies on the safety of ultrasound

• A study at the Yale Medical School found a correlation between prolonged and frequent use of ultrasound and abnormal neuronal migration in mice.
• A study published in 2001 by a team working at the Karolinska Institute in Stockholm found a correlation between the number of scans received by male fetuses and subsequent left-handedness.
• A meta-analysis of several ultrasonography studies was performed showing that there were no statistical significant harmful effects from ultrasonography. This however does not rule out the possibility that harmful effects are present, although they must be so small as not to show up in the sample sizes of choice in the studies. In addition, the report states in its main results that there is a lack of data with regard to long-term substantive outcomes such as neurodevelopment. "
  http://en.wikipedia.org/wiki/Medical_ultrasonography

 

[Kreskin]

But nearly everyone has an prenatal ultrasound, just not this one. They look for all the goodies, measure the heart rate, crown to rump length, and see if they can trick the sonographer into getting a peek at the privates. This does all of that (less the privates) and provides better information. And the risk is no more than a regular ultrasound.

 

[Ariadne]

But nearly everyone has an prenatal ultrasound, just not this one. They look for all the goodies, measure the heart rate, crown to rump length, and see if they can trick the sonographer into getting a peek at the privates. This does all of that (less the privates) and provides better information. And the risk is no more than a regular ultrasound.

The heart rate can be heard just fine with a stethoscope. The abdomen can be measured using a good old fashioned sewing style measuring tape (this is what doctor's did in the past) and that's about all that's really necessary. The heart rate indicates gender most of the time. There is absolutely no risk, no medical costs ... just good old fashioned prenatal care that midwives still use. Not very many people need an ultrasound, but they are routine ... and completely unnecessary for 98% of births. We should keep in mind that millions of women had babies prior to routine ultrasounds with no problems.

Just because it's routine, doesn't mean it should happen and it doesn't mean that more invasive tests should be routine.

 

[Kreskin]

The heart rate can be heard just fine with a stethoscope. The abdomen can be measured using a good old fashioned sewing style measuring tape (this is what doctor's did in the past) and that's about all that's really necessary. The heart rate indicates gender most of the time. There is absolutely no risk, no medical costs ... just good old fashioned prenatal care that midwives still use. Not very many people need an ultrasound, but they are routine ... and completely unnecessary for 98% of births. We should keep in mind that millions of women had babies prior to routine ultrasounds with no problems.

Just because it's routine, doesn't mean it should happen and it doesn't mean that more invasive tests should be routine.

It depends when people are measuring the heart beat. At first it is only detectible by ultrasound. As for using it to determine gender, that would be an old mid-wives tale. Unneccessary for 98% of births but how do you know which ones are the 2%? If you were at an intersection that provided 1 in 50 odds of a crossing accident would you take more precaution or just put the pedal to the metal?

 

[tracy]

You can not detect a heart beat early in pregnancy with a stethoscope, just like Kreskin pointed out. Heart rate correlates with gestational age (it slows as baby gets closer to term).

I'm not suggesting all women should be forced to have ultrasounds. It's their choice and they have to take responsibility for making their own choices.

Personally, my experience would make me insist on having at least the routine ultrasounds for dating and a general screen. I would want to know if my baby was the one in 33 or one in 50 babies that needed specialized care at birth (depending on if you believe the percentage to be 2 or 3% which I don't). I see those babies every day at work. Since no studies have ever shown dangers with routine ultrasounds in pregnancy despite the millions and millions that have been done, I'd rather have it. The benefits outweigh the risks IMO.

 

[tracy]

"More commonly, these babies are born to women with no family history and no known risk factors for congenital anomalies."

This stuck out to me from the link Ariadne posted.

 

[tracy]

Also, the 2-3% figure is likely low because it ignores pregnancies that end in miscarriage or selective abortion. From Ariadne's link:

"The birth prevalence of congenital anomalies is defined as the number of individual live born and stillborn infants with the congenital anomaly in question (in the numerator), expressed as a proportion of the total number of live births and stillbirths (in the denominator), in a given place and time. "Birth prevalence" is used rather than "incidence," as affected pregnancies that end in early spontaneous abortion or pregnancy termination are not captured."

 

[Ariadne]

It depends when people are measuring the heart beat. At first it is only detectible by ultrasound. As for using it to determine gender, that would be an old mid-wives tale. Unneccessary for 98% of births but how do you know which ones are the 2%? If you were at an intersection that provided 1 in 50 odds of a crossing accident would you take more precaution or just put the pedal to the metal?

The "old wives tale" that you refer to is something that doctors tell patients about when predicting gender. For some odd reason, it is particularly accurate.

It is probably nice for people to know if their child has a congenital defect, but it usually isn't necessary because there's really nothing to be done about it. Furthermore, plenty of congenital defects are not detected by ultrasound and those parents adjust to the news just fine. If a baby is in distress at birth, the apgar score tells the story.

To subject all fetuses to a test so that parents of 2% of the babies can be psychologically prepared for an abnormality seems like serious overkill ... usually statistics gravitate towards the normal, not the rare occassion.

How many of these reasons for ultrasound are really necessary:

Confirm the pregnancy and its location. Some embryos develop in the fallopian tube instead of in the uterus. An ultrasound exam can help your health care provider detect and treat a tubal (ectopic) pregnancy before it endangers your health.
Determine your baby's gestational age. Knowing the baby's age can help your health care provider more accurately determine your due date and track various milestones throughout your pregnancy.
Confirm the number of babies. If your health care provider suspects a multiple pregnancy, an ultrasound may be done to make sure.
Evaluate your baby's growth. Your health care provider can use ultrasound to make sure your baby is growing at a normal rate. Ultrasound can be used to monitor your baby's movement, breathing and heart rate as well.
Study the placenta. The placenta provides your baby with vital nutrients and oxygen-rich blood. Any problems with the placenta need special attention.
Identify possible fetal abnormalities. An ultrasound can help your health care provider detect many congenital abnormalities. An early diagnosis may lead to early interventions that help save or improve a baby's life.
Investigate bleeding and other worrisome signs or symptoms. If you're bleeding or having other complications, an ultrasound may help your health care provider find out what's going on.
Perform other prenatal tests. Your health care provider may use ultrasound to guide needle placement during certain prenatal tests, such as checking a sample of amniotic fluid for specific genetic problems (amniocentesis) or testing a sample of the placenta for genetic abnormalities (chorionic villus sampling).
http://www.mayoclinic.com/health/fetal-ultrasound/PR00054

I changed some to green, meaning they are not good reasons for an ultrasound, or that knowing the information will make no difference. For example, if there is something wrong with the placenta the only thing you can learn is that there may be a miscarriage. Everything in green can be checked without ultrasound.

I changed some to blue, because those are reasons where some factor during the pregnancy gave a reason for checking whether everything is okay.

The one in black clearly says that may help, but most often it doesn't change anything.

 

[Ariadne]

You can not detect a heart beat early in pregnancy with a stethoscope, just like Kreskin pointed out. Heart rate correlates with gestational age (it slows as baby gets closer to term).

I'm not suggesting all women should be forced to have ultrasounds. It's their choice and they have to take responsibility for making their own choices.

Personally, my experience would make me insist on having at least the routine ultrasounds for dating and a general screen. I would want to know if my baby was the one in 33 or one in 50 babies that needed specialized care at birth (depending on if you believe the percentage to be 2 or 3% which I don't). I see those babies every day at work. Since no studies have ever shown dangers with routine ultrasounds in pregnancy despite the millions and millions that have been done, I'd rather have it. The benefits outweigh the risks IMO.

If I recall correctly, it seems to me that the heartbeat can be heard around 12 weeks and the movement can be felt around 16 weeks. Does anyone really need to detect the heartbeat sooner?

I'm sure that a lot of women want the peace of mind knowing that their fetus is okay, but many, especially for the 2nd, 3rd birth and so on, don't worry at all.

There are some minor problems with ultrasound. One is overheating and another, yet undefined, indicates that males subjected to ultrasound are more likely to be left-handed. That's a pretty strange stat. Furthermore, since ultrasound has only been routinely used for the last 20 years, we may yet learn in 30 years that all these people are prone to brain tumours at age 50. Who knows ... since we haven't really had a chance to evaluate to long term results. Short terms results indicate that there's not much of a problem. I have to wonder why 9 weeks gestation is the earliest that the test is done and what happens if the test is done when the fetus is 6 weeks???

 

[Ariadne]

Also, the 2-3% figure is likely low because it ignores pregnancies that end in miscarriage or selective abortion. From Ariadne's link:

"The birth prevalence of congenital anomalies is defined as the number of individual live born and stillborn infants with the congenital anomaly in question (in the numerator), expressed as a proportion of the total number of live births and stillbirths (in the denominator), in a given place and time. "Birth prevalence" is used rather than "incidence," as affected pregnancies that end in early spontaneous abortion or pregnancy termination are not captured."

I think there's a good reason for not including those numbers in the percentages since the reasons for the miscarriage cannot necessarily be attributed to a congenital defect. Ultrasound, again, would make no difference. Terminated pregnancies certainly shouldn't be included in the numbers since women all across the country terminate pregnancies because of their, not the fetus', circumstances,

 

[tracy]

I think there's a good reason for not including those numbers in the percentages since the reasons for the miscarriage cannot necessarily be attributed to a congenital defect. Ultrasound, again, would make no difference. Terminated pregnancies certainly shouldn't be included in the numbers since women all across the country terminate pregnancies because of their, not the fetus', circumstances,

The point is, they aren't including miscarriages and abortions that they know are related to congenital anomalies. That means the 2-3% figure is artificially low.

 

[tracy]

The "old wives tale" that you refer to is something that doctors tell patients about when predicting gender. For some odd reason, it is particularly accurate.

It is probably nice for people to know if their child has a congenital defect, but it usually isn't necessary because there's really nothing to be done about it. Furthermore, plenty of congenital defects are not detected by ultrasound and those parents adjust to the news just fine. If a baby is in distress at birth, the apgar score tells the story.

To subject all fetuses to a test so that parents of 2% of the babies can be psychologically prepared for an abnormality seems like serious overkill ... usually statistics gravitate towards the normal, not the rare occassion.

How many of these reasons for ultrasound are really necessary:

Confirm the pregnancy and its location. Some embryos develop in the fallopian tube instead of in the uterus. An ultrasound exam can help your health care provider detect and treat a tubal (ectopic) pregnancy before it endangers your health.
Determine your baby's gestational age. Knowing the baby's age can help your health care provider more accurately determine your due date and track various milestones throughout your pregnancy.
Confirm the number of babies. If your health care provider suspects a multiple pregnancy, an ultrasound may be done to make sure.
Evaluate your baby's growth. Your health care provider can use ultrasound to make sure your baby is growing at a normal rate. Ultrasound can be used to monitor your baby's movement, breathing and heart rate as well.
Study the placenta. The placenta provides your baby with vital nutrients and oxygen-rich blood. Any problems with the placenta need special attention.
Identify possible fetal abnormalities. An ultrasound can help your health care provider detect many congenital abnormalities. An early diagnosis may lead to early interventions that help save or improve a baby's life.
Investigate bleeding and other worrisome signs or symptoms. If you're bleeding or having other complications, an ultrasound may help your health care provider find out what's going on.
Perform other prenatal tests. Your health care provider may use ultrasound to guide needle placement during certain prenatal tests, such as checking a sample of amniotic fluid for specific genetic problems (amniocentesis) or testing a sample of the placenta for genetic abnormalities (chorionic villus sampling).
http://www.mayoclinic.com/health/fetal-ultrasound/PR00054

I changed some to green, meaning they are not good reasons for an ultrasound, or that knowing the information will make no difference. For example, if there is something wrong with the placenta the only thing you can learn is that there may be a miscarriage. Everything in green can be checked without ultrasound.

I changed some to blue, because those are reasons where some factor during the pregnancy gave a reason for checking whether everything is okay.

The one in black clearly says that may help, but most often it doesn't change anything.

I don't know any doctors who still tell women that about heart rate.

You are misinformed if you think that ultrasound results won't change treatment for the mother or the baby. They can and do. The things in green can not necessarily be confirmed by other methods. Those other methods are limited in what they can tell us.

Knowing there is something wrong with the placenta can influence our care of a laboring women immensely. Placenta previa is the most obvious example. If you don't know you have it and try to give birth vaginally, there is a good chance you'll bleed to death (this is also one of the possible reasons for bleeding in pregnancy). Aside from the physical benefits, the emotional benefits are immense. Sure parents survive even when they are surprised by a congenital defect the day their baby is born, but they don't do as well as parents who are prepared ahead of time. And yes, a lot of parents will decide whether or not to terminate pregnancies based on ultrasound results. There are conditions for which I would choose that. You may not see that as a benefit, but it is for lots of people. I wouldn't want to carry an anecephalic baby to term just to watch it die. Being spared that because of an ultrasound would be a positive for me.

It also isn't so simple at birth for the baby. Certain defects need treatment immediately or they will result in serious injury or death. Give birth to a baby with hypoplastic left heart or tetralogy of Fallot or a congenital diaphragmatic hearnia in a small hospital without specialists and your chance of a good outcome decrease significantly. Those babies usually need immediate treatment. Part of the treatment we routinely do at delivery can be harmful for cardiac patients. In duct dependent conditions, the baby NEEDS a duct called the ductus arteriosis to stay open in order to survive. If we don't know that and give the baby oxygen because it seems stressed we can actually cause it to close.

 

[Ariadne]

The point is, they aren't including miscarriages and abortions that they know are related to congenital anomalies. That means the 2-3% figure is artificially low.

I'm saying that it's a very difficult statistic to calculate. A problem with the placenta could result in stillbirth. Alcohol during the pregnancy could result in miscarriage. If the baby is stillborn, is an autopsy performed to understand why? I highly doubt it. Also, if the congenital abnormality is so severe that it results in miscarriage, is it really a viable birth? The 2-3% could also be artificially high when considering all the voluntary abortions that occur every day. If those healthy fetus abortion numbers were all identified as viable births, maybe the statistic wouldn't change at all, maybe it would go up and maybe down. For whatever reason, the statistical analysis of the percentage of abnormalities in birth were calculated as they were ... it was probably a good reason.

 

[tracy]

I'm saying that it's a very difficult statistic to calculate. A problem with the placenta could result in stillbirth. Alcohol during the pregnancy could result in miscarriage. If the baby is stillborn, is an autopsy performed to understand why? I highly doubt it. Also, if the congenital abnormality is so severe that it results in miscarriage, is it really a viable birth? The 2-3% could also be artificially high when considering all the voluntary abortions that occur every day. If those healthy fetus abortion numbers were all identified as viable births, maybe the statistic wouldn't change at all, maybe it would go up and maybe down. For whatever reason, the statistical analysis of the percentage of abnormalities in birth were calculated as they were ... it was probably a good reason.

I work with high risk mothers and babies. Parents are given the choice on whether to have an autopsy for a stillborn infant or not. Some choose that and some don't. The reason they aren't included in the figures is that it's too hard to do so. It's the same for those who are aborted. For early terminations, we don't list the reason. We only do for late term abortions. I worked on a unit that did those in Vancouver. They were all for serious congenital anomalies, most of which were incompatible with life. It was horrible for the families, but I never met a single family who said they wished they hadn't found out until they went to term.