A new technique could revolutionize the diagnosis of Down syndrome in a way that mothers will love. All it takes is 1/2 tsp of the mother’s blood for stunningly accurate results.

Then Not long ago the plan was for every pregnant woman over the age of 35 to be offered amniocentesis or chorionic villus sampling (CVS) for the diagnosis of Down syndrome.  These tests are quite accurate because they directly count the chromosomes of the fetus to detect three copies of chromosome 21, the defining characteristic of trisomy 21 (Down syndrome). But there were two problems:

1. About 5% of pregnant women in the US received these invasive tests. Amnio requires a needle to be passed through a mother’s abdominal wall and through the wall of her uterus into the fetal environment to collect a sample of amniotic fluid. The miscarriage rate is somewhere between 0.03% and 0.5%. And parents often don’t get an answer until 18 weeks pregnant. With CVS the needle can be passed either through the mother’s abdominal wall or through her cervix to get a sample of the placenta. Results are available as quickly as two months earlier than with amnio, but the miscarriage risk is 1%. When you consider the millions of women who have had amnio or CVS, the miscarriages are not trivial.

2. Only about 30% of Down cases were picked up with this plan; 70% were missed! Even though older women are a higher risk group, more babies are born to younger women.

Today’s Status Quo Experts began to use clues from prenatal ultrasounds and from combinations of markers found in blood tests of mothers to more precisely target who would benefit from amnio and CVS. As the blood tests progressed from double to triple to quadruple combinations the accuracy increased — but the items tested were still circumstantial evidence that often go along with trisomy 21, not the chromosomes themselves. This led to the current status quo:

1. Amnio or CVS is still recommended for 3 to 5% of pregnant women in the US, or about 120,000 to 200,000 women per year.

2. About 90% of cases of Down syndrome are picked up by this screening program; about 10% are not picked up until birth because their mothers never received amnio or CVS.

The Breakthrough A simple, non-invasive new test reported January 2011 in the BMJ directly counts the trace levels of fetal chromsomes that make their way into the mother’s blood. The test is simple from the mother’s perspective, but uses sophisticated massively parallel gene sequencing to get the job done. More than two million tests are performed on each 1/2 tsp sample. The new test, which can be performed in the first trimester, appears remarkable:

1. In this study, the test was able to detect 100% of cases of Down syndrome. A negative test appears to virtually rule out the presence of Down syndrome.

2. Because there is a small false positive rate, confirmatory amnio or CVS would be recommended for those with a positive test. Nevertheless, this new test would eliminate the need for about 98% of all amniocentesis and CVS.

A New Era This gene-sequencing blood test is not yet routinely available. But it is a clear glimpse of the near future, when non-invasive sequencing tests will be able to precisely and directly diagnose many conditions better than ever before.

Chiu, RWK et al. “Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.” BMJ 2011;342:c7401 doi:10.1136/bmj.c7401

Dr. Greene’s Answer:

It used to be that tonsils were removed routinely if there were any problems. We have since learned that the tonsils are an important part of the immune system. They function as guard outposts, identifying and trapping germs before they get into the lungs or intestines. More importantly, they function as a training school for white blood cells, where they learn to recognize invaders. As kids grow, the tonsils shrink as they become less and less important–their job is winding down. (Parents also protect and teach kids when young–our role lessens when they grow, but it is still wonderful to have parents.)

Today, there are a few reasons to take out the tonsils. The American Academy of Pediatrics recommends removing the tonsils under these conditions:

1. If the enlarged tonsils cause sleep apnea (inadequate breathing while asleep, often accompanied by snoring)
2. If the enlarged tonsils cause significant difficulty with swallowing or breathing

The American Academy of Pediatrics considers tonsillectomy a reasonable option under certain other conditions:

1. If a child has seven episodes of strep throat or other significant throat infection in one year, or five such episodes in each of two years, or three such episodes in each of three years
2. An infection severe enough to cause an abscess (pocket of pus) in or around the tonsils
3. A complicated course of tonsillitis, despite appropriate treatment

There are other reasons–such as allergies to antibiotics–that might also influence the decision.

Your child is doubled over in pain. Concern has brought you both to the Emergency Room, but after initial evaluation, the situation still isn’t clear.

Is this appendicitis or not?

An exciting report in the September 15, 1999 Journal of the American Medical Association describes a new test that can answer the question without either the long ordeal of “let’s wait and see” or having exploratory surgery.

When the work-up is inconclusive, an abdominal CT scan with rectal contrast (CTRC) is highly likely to display either a reassuring normal appendix or an inflamed appendix needing to come out! Mystery solved. This cost-effective test will be an invaluable service to our children.

Dr. Greene’s Answer:

When most people hear the term “tongue-tied”, they picture someone nervous, stammering, and at a loss for words. Tongue-tie isn’t just a cartoon caricature or picturesque description of an embarrassing moment; it is a relatively common physical condition.

During fetal development, cords of tissue called frenula form in the front-center of the mouth, beginning as early as 4 weeks of gestation. The word “frenulum” comes from the Latin word for bridle. A bridle can be used to guide a horse. In roughly the same way, the frenula guide the development of the structures of the mouth. Early in development, the frenula are important, strong cords, which then recede over time. After birth, they are still useful in guiding the positions of the baby teeth as they come in.

The tiny cord between the center of the upper lip and the center of the upper gum is called the labial frenulum (or lip frenulum). If you slip your tongue up where your upper lip meets your upper gum, you can probably still feel a remnant of your labial frenulum.

Another cord between the base of the tongue and the floor of the mouth or the lower gum is called the lingual frenulum. If you lift your tongue up and look in a mirror, you probably can see the strand of tissue connecting the bottom of your tongue to the floor of your mouth — what is left of your lingual frenulum.

In some kids, the lingual frenulum is short and taut after birth, partially restricting movement of the tongue. This condition is called ankyloglossitis (don’t doctors have great names for things?) — more commonly known as tongue-tie.

In most of these children, the frenulum continues to recede during the entire first year. Their parents get to watch a part of development that usually happens in the hidden inner sanctum of the uterus.

Although tongue-tie is common, only in rare children is medical treatment necessary. If a tight frenulum is interfering with a baby’s feeding, then early treatment is indicated. To accomplish this, the tongue is “loosened” by means of very simple and effective surgery. If a baby is feeding well, however, it is usually better to wait at least a year before revisiting the question of surgery, since tongue-tie so often resolves on its own.

Treatment is again considered if the tongue-tie is affecting speech — especially making it more difficult to pronounce the “th” sound. Tongue-tie is most likely to persist and pose a problem if the insertion points of the frenulum are on the very tip of the tongue and also on the top ridge of the bottom gum. A strong family history is also suggestive of a need for surgery at some point.

It is normal for toddlers to speak in a charming, partially understandable way. We expect kids to have mostly intelligible speech by age three (i.e. others besides their parents understand more than half of their words easily). Your 2 1/2-year-old’s speech may be normal for his age, or may be hindered by his tongue-tie. I would recommend an evaluation by an experienced speech pathologist. This will give you useful information and may help force the hands of doctors and insurance companies. If the speech therapist feels that the tongue-tie is indeed hindering his language development, then I would certainly ask a pediatric otolaryngologist (ear, nose, and throat surgeon) to consider a simple surgical release for an otherwise healthy child.

If the therapist is unconcerned about his speech development, the simple release surgery could still be performed for cosmetic reasons. Often, Christine, “cosmetic” reasons are not superficial reasons. They can affect such core issues as self-esteem, physical comfort, and development of social interactions. Rarely will you encounter an easier way to free your son from bonds that are holding him back!

Dr. Greene’s Answer:

The amount of information that can be gleaned from a small amount of blood is truly amazing. This information can literally make the difference between life and death. Unfortunately, for many children, their fear of the needle stick required to obtain that small amount of blood is greater than their fear of death itself.

The first step in making blood draws (and other needle sticks) more bearable for your child is to put yourself in your child’s place. Obviously, Dorothy, you already do this, but the mother who threatened to skip McDonald’s if her little girl didn’t stop crying wasn’t able to feel the fear and pain her daughter was experiencing.

A child’s degree of needle fear changes at different developmental stages. And each individual child’s fear is affected by his or her past experiences. Most children who require frequent blood draws will inevitably have a bad experience — a technician misses the vein, digs to find it, then the child begins to cry and tries to escape from the pain, the technician tries harder, etc. Finally someone gets the needed blood and the child is no longer tormented, but the terror of the experience goes with the child. The next time someone attempts to draw blood from the child, the whole experience is revisited, bringing tension into every muscle of his or her body.

In general, it is much more difficult to draw blood from children than from adults, due to the relative size of their veins. Unlike children, most adults can reason with their fears. As adults, we can understand the need for the tests our doctors recommend. We may not be able to completely divorce ourselves from negative past experiences, but we can tell ourselves that it probably won’t be as bad this time as it was last time. We know that if it is not going well we can demand a different technician, and as a last resort, we can get up and walk out. That level of control makes the experience far more manageable for adults than for children. At most developmental stages, most children don’t have the ability to reason with their fears. As children, they can’t demand better service, and they feel powerless to change the course of events.

As parents, we not only have power over our own medical care, but also over that of our children. As your child’s guardian, there are several things you can do to make the experience better for them:

• Mirror your child’s emotions back to him or her. If your child begins to act out before you even get to the lab, stop and talk about how he or she is feeling. You might begin by saying, “You are acting as if you are angry.” Usually a child will respond to these kinds of statements with something like, “Yeah, I’m mad.” You can keep the conversation focused by drawing out further emotions: “It really doesn’t seem fair, does it?” “No. Why do I have to always get stuck?!”
• Let your child know that you accept his or her emotions. Don’t say something like, “Now it’s time to be a big girl.” Instead say, “I understand why you are angry.”

Get your child involved in a solution — “Since we’ve got to get this blood test, how can we work together to make it as easy as possible?” Even very young children can brainstorm, and when they are involved in coming up with a solution, they try harder to make it work. Here are some things you might suggest during the brainstorming session:

• Your child could sit on your lap during the blood draw.
• You could stand behind him or her and give a shoulder rub during the draw.
• You could hold his or her “other” hand.
• You could hold your finger up like a candle and let your child blow it out when the needle goes in. Make a game out of it — that pesky flame won’t go out easily, so your child needs to blow and blow until the blood draw is over. (This is similar to Lamaze breathing.)
• You could do a tap dance during the draw to distract him or her (this is especially good if you can’t dance and your child knows it!)
• You could tell his or her favorite story.
• You could let your child pretend to draw blood from his or her teddy bear. Be sure to ask how the teddy bear is feeling. If the teddy bear hurts (which I’m sure he will!), ask your child to think of things that could be done to make teddy feel better.
• You could leave the room — sometimes older kids would prefer this; it makes them feel grown up.

Do everything you can to get your child to relax before the blood draw. It is much easier to get the stick if both the child and the lab tech are relaxed:

• Leave plenty of time to get to the lab. If you are tense in traffic, your child will get tense, too.
• Play soothing music in the car on the way to the lab.
• If possible, make it a one-on-one time with the child who is getting the test — leave siblings with a sitter.
• Distract your child with a fun game.

Make friends with the lab technicians! This one is important!!! Lab technicians dread aggressive parents. Having to deal with aggressive parents makes them tense and they miss more often.

• Visit the lab without your child and watch (without being noticed) how different people interact with patients. When they do notice you and ask if they can help you, simply explain that your child is going to need frequent blood work from their lab and you wanted to become familiar with the physical layout of the lab before bringing him or her so that your first trip would be as easy as possible.
• Learn the names of the people who work in the lab. If one seems particularly good, ask for him or her by name. People are always honored when you do that, and they try to give you better service.
• Treat the people who work at the lab with respect.
• Bring them goodies from time to time.
• Thank them for their time and work.
• Let your child know that you will make sure he or she gets the best possible treatment. In general, I recommend two (maybe three) tries before requesting someone new. If your child is dehydrated, the veins may be particularly difficult to find, and it is better to let someone who has “gotten to know” the current status of your child’s veins try a third time than to get a new person involved. Sometimes, even when your child’s veins are in great shape, your favorite technician will miss. Maybe he or she is having an off day. There is nothing wrong with requesting that someone else take over, IF you do it nicely. “I’ve promised my son that I won’t let anyone stick him more than twice. I know you usually get it the first time, but I really need to keep my word to my son, so I hope you won’t mind getting your supervisor. If she’s busy, we’ll be glad to wait.”
• If your child becomes upset during the blood draw, give him or her options (if your child is old enough to understand what’s going on). Ask if he or she would feel better if we all took a little break, or would it be better just to get it over with. Let your child know that not doing it at all isn’t an option.
• Focus on your child’s needs. Don’t be concerned with what the other people in the lab may think about you and your child. If your child is crying, cry with him or her. If your child is kicking and screaming, gently hold him or her with your mouth near his or her ear. Quietly sing your favorite lullaby, even if your child is “too old” for lullabies.
• When it is all over, tell your child that you are proud of him or her. Going through that kind of experience is heroic — no matter how he or she acted during the draw.

There is also a topical anesthetic called EMLA cream that will numb the skin and make the needle stick more comfortable. It must be applied one to two hours before the procedure. Ela-Max is a similar cream that requires less time to work. However, EMLA and Ela-Max are not routinely used for blood draws and can add to a child’s anxiety, because he or she may begin to think about (and often dread) the experience during the preparation period.

Frequent blood draws can become a major emotional issue for children. If your child is already “deathly” afraid of needles or if he or she comes to that point, you may want to seek the help of professionals. Most children’s hospitals have a Child Life department with trained specialists. These departments often offer classes for patients and may be able to facilitate participation for out-patients as well. If they are not, they will be able to recommend psychologists in your area who can help your child work through his or her fears.

I know how difficult it is to watch someone you love very much go through a long illness that requires frequent needle sticks. I also know that your child is not the only one who experiences fear and pain with each stick. Dorothy, I know this whole experience is very difficult for you, too. In some ways, it would be easier for you to be sick yourself, instead of your child. What you are going through is heroic, and I’m proud of you, too.