Spinal Muscular Atrophy Testing

Mar 12, 2017

This story is just tragic…and avoidable. Don’t worry my lovely patients, I have been doing all I can to prevent this happening to one of you. For years now, ever since the SMA test was available as a commercial test (no Medicare rebate), I have offered this test to every pregnant, post natal and would-be pregnant patients that I know may be considering a family in the future. If you have had the Cystic Fibrosis and Fragile X screening test then be reassured you have also had this test. Review the letter that I sent you with the CF and FXS results, it also contains the SMA screening results. I have had a handful of patients who are carriers but their partners were all clear. The test is available to anyone (public patients, private patients, anyone!), but unfortunately it is completely ‘out of pocket’ and the cost of $385 precludes many people from affording the test. However, often the issue is not the cost per se – some people will consider this test important and worth the money – but not even be aware that this test is even available. It can be ordered by any doctor. GPs and obstetricians all should have knowledge of this test. The beauty of this pre-pregnancy test is that if we find that both partners are carriers of SMA, then through IVF technology we can perform testing on embryos prior to transfer to the uterus so that women can be confident their babies are healthy. No doubt this innocent and unlucky couple will be doing IVF and PGD (pre-implantation diagnosis) in the future. It will never compensate them for the loss of their beloved baby.

Click here to view the full interactive story

aviana

Zika Virus

Jan 28, 2016

When you are pregnant, it is normal to feel paranoid about whether your baby will be healthy when it is born, and will your baby grow up to be a ‘normal’ child. The most recent reports about Zika virus will only act to send this anxiety through the roof. It is important that we look at the facts and make sure any precautions are taken to maximise the chance of a healthy baby in the event that you need to travel to an affected country or there is any spread to the Australian mainland (possible but unlikely in the foreseeable future).

Zika virus is a virus that is spread through mosquito bites. While it has been isolated from blood and semen, it seems that transmission is almost exclusively via mosquito bites. It is NOT spread from person to person through usual direct contact. As it is virtually always that infection is caused by mosquito bites, the main way to avoid infection is to avoid being bitten by mosquitoes. The mosquito that transmits the infection (the ‘vector’) is a particular kind of mosquito (aedes aegyptus) that exists only in TROPICAL areas. There is another species of mosquito (aedes albopictus) that lives in temperate areas which can also transmit the virus but this is less common. Hence, avoiding travel to areas where these mosquitoes thrive is recommended. Further, taking precautions to avoid mosquito bites also reduces the risk.

mosquito

The most recent outbreak of Zika has been in Brazil. It has been noted that during the recent outbreak of Zika virus infection there has been a concomitant increase in the birth of babies with microcephaly. Microcephaly literally means small head. Many conditions can cause microcephaly, including other kinds of infections and specific developmental conditions. The concern with microcephaly is that it is usually associated with a smaller brain and related intellectual disability and developmental disorders.

While there is no doubt that Zika has been associated with increased risk of miscarriages and pregnancy loss, as well as microcephaly and intellectual disability, the exact way that it causes these serious problems is not completely understood. Further, how it affects development, and the impact of when during pregnancy is it contracted (ie how infection during each of the 3 trimesters), is also not completely understood. The most accurate thing that can be said is that the 20 fold increase in birth of babies with microcephaly in Brazil has occurred coincidentally with a large increase in the rate of Zika virus infection. Therefore, the logic is that the Zika virus is the likely cause.

Zika infection usually manifests in an illness about 2-12 days after being bitten by the infected mosquito. The illness caused includes fever (usually low grade: 37.8-38.5), rash, sore joints and conjunctivitis (at least 2 of these symptoms must be present to suggest the cause is possibly Zika virus). Other symptoms include headache, muscle pains and pain behind the eyes. Many infections can be ‘silent’ (or subclinical) whereby the infection can present without the patient being aware of having the infection. Even these ‘silent’ infections can be associated with a risk of having an affected baby. This is where the paranoia kicks in!!

Unless travel has occurred to an affected area, the likelihood is that there is another cause for the symptoms, including parvovirus, dengue fever, rubella, measles or other more uncommon infections. I routinely test all new pregnant patients for rubella and parvovirus, so I will be aware if you already have immunity to those particular viruses.

So what do I recommend:

1. Simply DO NOT GO to any countries where the offending mosquitoes thrives and/ or there is a current outbreak (check the CDC website (USA) or smarttraveller.gov.au. Sorry my lovely patients; NO trip to the Olympics! I don’t care what special corporate wiz-bang deal you may have been offered. Watch it at home!

2. Whilst the mosquito can live in temperate areas, there is currently no reason to believe the mosquitoes in Australia are affected. However, the virus has had outbreaks in Pacific Islands such as Samoa and the Cook Islands. It is possible that it could spread to temperate and tropical regions of Australia (FNQ, Northern territory, northern WA). I would possibly reconsider any trips to far north Queensland or pacific islands until we have a better grip on the situation.

3. It is sensible to be more strict about to covering up avoid insect bites. How do you do this:

  • Wear long sleeves and long trousers.
  • Apply insect repellent (DEET or picaridin containing). Forget the ‘natural’ repellants (citronella, eucalyptus, maleleuca, ultrasonic repellents). This is a situation where only tried and tested good ole chemicals will work.* The natural alternatives vary between useless (ultrasonic) to OK (oil of lemon eucalyptus) but only offer partial coverage and are simply not enough to protect you from Zika.
  • Repellant can be applied directly to some skin surfaces but the best approach is to spray your CLOTHES and only apply repellent to EXPOSED skin surfaces. Do NOT apply repellent UNDER clothing.
  • Purchase clothing/ bedding/ equipment pre-treated with permethrin or apply permethrin to these items.
  • If overseas, use a mosquito net over the bed while sleeping.

*personally I feel the same when it comes to head lice treatment!! There are some things that require nothing less than chemical annhiliation….(just wait until your much loved little perfect baby turns into a mop-topped little toddler and comes home with a head full of lice. Trust me…)

With regards to insect repellent, it is appropriate to be cautious of pesticides. DEET, which is the main active ingredient in personal insect repellents, has NOT been shown to increase fetal abnormalities. When applied to skin it is absorbed into the circulation, thus a growing fetus is exposed to this pesticide. Therefore as explained above, it is more appropriate to apply DEET to clothes rather than skin. Another repellent is picaridin. It is a little stronger than DEET but does not last as long. Clothing and bedding itself can be treated with permethrin but it is not applied to skin.

It will be tempting to want testing to reassure yourself that you do not have Zika virus if you have travelled recently. This may be appropriate if you have been to one of the nominated countries that are affected, especially if you have had symptoms consistent with viral infection. At present the CDC in the US do not recommend testing for women with no symptoms and no evidence of fetal abnormality. This policy may change. The main basis of this policy is that the capacity for testing for this virus is currently very limited. We simply do not have the resources for a massive increase in testing, especially for the ‘worried well’ who have not even travelled to affected areas. Rest assured that this capacity is being reviewed and is likely to be ramped up in anticipation of an increased need to test women who have travelled to countries where Zika is already established or looks likely to be affected soon.

In the meantime I think the sensible approach is to avoid travel and step up your regime to avoid insect bites. (As you are probably aware I am not a great fan of women travelling during pregnancy anyway due to the unpredictable nature of pregnancy and the risks involved).

This infection is still being monitored and health agencies are active in trying to contain the spread and establish policies to protect pregnant women. In the meantime, watch this space!

Further information can be obtained from:

RANZCOG
https://www.ranzcog.edu.au/news/Zika-Virus

“There are concerns that pregnant women who become infected with Zika virus can transmit the disease to their unborn babies, with potentially serious consequences. The association between Zika virus and fetal malformations is still being investigated. However, rapidly accumulating evidence from the current outbreak appears to support a link between Zika virus infection and microcephaly and other serious brain abnormalities. Until more is known about Zika virus transmission in pregnancy and the association with adverse fetal outcomes, pregnant women should consider postponing travel to countries affected by the virus as authorities expand their list of places of concern.”

RANZCOG statement August 2016

RANZCOG Guidance

Care of women with cofirmed Zika virus infection during pregnancy in Australia (pdf)

Zika virus and congenital birth defects: Advice for couples living in Australia who are planning pregnancy (pdf)

The CDC website in the USA
http://www.cdc.gov/zika/geo/index.html

Smartraveller
http://smartraveller.gov.au/bulletins/zika_virus

WHO
http://www.who.int/mediacentre/factsheets/zika/en/

Australian Department of Health
http://www.health.gov.au/internet/main/publishing.nsf/Content/ohp-zika.htm

Countries affected by Zika:
I recommend that you appraise yourself of the most up to date list of countries through the Australian Department of Health website:
http://www.health.gov.au/internet/main/publishing.nsf/Content/ohp-zika-countries.htm

Insect repellants in Australia

  • Aerogard – picaridin
  • Bushman – DEET
  • Off! – Picaridin
  • Rid – DEET

Iodine in pregnancy and lactation

Jan 16, 2016

Iodine is a naturally occurring mineral that our bodies need for regulation of our metabolism. In pregnancy, the fetus relies on the mother to supply an adequate amount of iodine and, after birth, infants rely on breastmilk (or formula) to supply iodine.

The thyroid gland (a gland present in our necks; when it is enlarged it is called a ‘goitre’) requires iodine to produce thyroid hormone essential for regulation of metabolism. A deficiency of iodine or thyroid hormone in adults can result in fatigue, memory loss, dry hair and skin, slow reflexes and weight gain. In the developing fetus and in babies iodine deficiency can affect normal brain development resulting in lowered IQ, intellectual disability and diminished growth. Therefore, it is essential that pregnant and lactating women have an adequate daily intake of iodine.

So where do we get iodine from? Iodine content in food varies but is generally higher in seafood and dairy food, including eggs. A balanced diet will supply adequate iodine in most cases, but as pregnant and lactating women have a greater requirement, dietary sources may not be enough. Australia is now considered an iodine deficient country. This has occurred due to 2 main reasons: firstly, our increased consumption of processed foods has increased our salt intake but the food industry does not usually use iodised salt. Secondly, in the past, milk was stored in containers that were cleaned and sanitized using iodine containing disinfectants. The iodine in these cleaning agents leached into the milk. The iodine was theoretically a contaminant of the milk but actually was beneficial in supplying a significant amount of our daily iodine requirement. Now the dairy industry uses mainly chlorine based disinfectants so the iodine levels in milk have dropped.

How much do we need? Most adults require 150 mcg (MICROGRAMS) per day but pregnant women need 220-250mcg and lactating women need 270mcg per day. Fetuses will extract about 15mcg per day up to about 90mcg by term. Much of this transfer occurs in first trimester when maternal thyroid hormone production increases by about 50%. So as soon as a woman is pregnant her requirement for iodine increases significantly. Allowing an extra 100mcg daily from conception will cover this increased need.

Australia has a programme to assist people to get enough iodine into their diet. Bread is now fortified with iodine. This is mandatory. The only bread that escapes this law is ‘organic’ bread. This fortification programme alone increases the average daily intake by 50mcg daily. Also, salt is a major potential source of iodine. However, salt must be ‘iodised’. Natural sea salt does NOT contain much iodine. Therefore, using ‘iodised’ salt will add to our daily intake. Most Australian households have reduced the amount of salt used in cooking, but when they do it is often non-iodised salt. Simply replacing salt used in cooking or added at the table with iodised salt (it is on the salt packet – it has to be by law) will increase daily intake of iodine. Iodised salt contains approximately 200mcg per teaspoon (6g).

In addition, to ensuring adequate dietary intake (food or iodised salt) pregnant women may also need a supplement. Most multivitamins now contain iodine as an ingredient. It is usually recommended that a vitamin supplement contain between 150 to 250 mcg of iodine. There is no evidence that supplementation above 500mcg daily is beneficial. The maximum dose of additional supplementation is about 750mcg. Although only a small amount of iodine is stored in the thyroid gland and extra iodine is excreted by the kidneys, there is no safety data on taking more than 1000mcg daily so it is recommended to keep both dietary and supplement intake below 1000mcg daily.

Are there any circumstances where extra iodine supplementation should be avoided? Yes. In people with pre-existing thyroid disease having too much additional iodine may interfere with their thyroid function or medication requirements. Any iodine supplementation should only be taken under medical supervision. Also, some people are ‘iodine sensitive’.

What supplements can I take? As stated, most multivitamins contain iodine now. Check yours. Take into account the amount of iodine in the tablet and HOW MANY tablets you take daily. Additional supplementation can be taken in the form of iodine drops, iodine tablets (eg ‘Neurotabs’), tablet combinations (eg Blackmores I-Folic: iodine PLUS folic acid) etc. It is best to AVOID kelp supplements. Although kelp is a very good source of iodine (hence why sushi has a high iodine content because of the seaweed wrap), the amount of iodine in each kelp supplement can be variable AND the kelp supplement may contain higher doses of mercury.

How reliable is the test itself? The best test we have is a urinary iodine level. This measures the urinary excretion of iodine (hence a reflection on how much extra you have which is being excreted). If you are only excreting a small amount of iodine (less than 100mcg per litre of urine) this indicates that you are not getting enough iodine in your diet. Australian data indicates that the average urinary excretion of iodine in women is about 80mcg per litre and the average daily intake is about 130mcg per litre. This is well below the recommended intake. Ideally women should have a dietary intake of at least 220 mcg daily. Adequate dietary intake should result in urinary excretion levels above 100mcg and ideally above 150mcg per litre.

So what is my advice to you?

Be aware that I ROUTINELY test at 10 and 28 weeks. This is over and above the antenatal testing recommendation. I do so because my patients are extra special people who deserve extra intelligent children! My hope is they have all those extra IQ points to become doctors and don’t have to become lawyers (ha ha – sorry – no offence to all those lawyer patients of mine….)*

If I contact you after your 10 week bloods to advise additional iodine supplementation DON’T PANIC! You have not broken your baby! Tiny fetuses need very little iodine to begin with and will take what they need from you. If I advise a supplement I will PRESUME you are already on a multivitamin, so I will be recommending supplementation with an iodine supplement ON TOP OF the multivitamin.

If I contact you after your 28 week bloods to advise additional iodine supplementation DON’T PANIC! You have not broken your baby!!! If your initial result was normal and you are continuing to take your multivitamin then tweaking things at 30 weeks will just keep things well in normal range.

So:

  • make sure your multivitamin contains some iodine.
  • Make sure I am aware of which supplement you are taking (you should have noted this down at your first visit when you filled in the medical questionnaire).
  • Make sure I am aware if you have specific dietary restrictions (eg if you don’t eat seafood or dairy) that may result in low dietary iodine intake (once again this information is requested on the questionnaire).
  • If I advise extra iodine supplementation then take an extra supplement such as Blackmores I-folic 1 daily or Neurotabs 1 daily (others are OK – speak to your pharmacist). There is no need to contact me before your next appointment. I will discuss the result with you at your next appointment and if you are taking another type of supplement I will check this with you.
  • See the foodstandards.gov.au website for a list of foods and their iodine content to help you determine any dietary changes you should make.
  • Do not start taking excessive amounts of iodine. This may have detrimental effects on the fetal thyroid gland. Just add the supplement that I have advised.
  • If you have an underlying thyroid condition speak to me about your individual situation.

*FYI my son is doing law this year at university…if only I had taken more iodine during his pregnancy ;-).

Coffee during pregnancy

Nov 18, 2014

coffee

OK. The coffee story: Overall it is agreed that moderate consumption of coffee is safe in pregnancy. So what is moderate and what can I drink you ask???

Caffeine is present in many beverage and food products, most commonly associated with coffee. There has often been a suggestion that caffeine is unhealthy in pregnancy. Caffeine does cross the placenta and is slowly metabolised by the fetus. In fact the fetus metabolises caffeine more slowly than adults and thus has a more prolonged exposure. Theoretically, caffeine can cause the release of a substance that closes blood vessels (‘vasoconstriction’) and therefore may be associated with reduced placental blood flow to the fetus. Also, some animal studies have suggested a link to birth defects in rats. This has not been seen in humans, although there are sources that say there is or may be a link.

The problem with studies in humans is there are many factors that make the study of caffeine intake difficult. Thus the data is inconclusive as many of the studies have inherent flaws. These flaws include: the link between drinking coffee and smoking (I know, I know – my patients don’t smoke – but studies of less well behaved people than my patients have difficulty separating the two habits and we KNOW smoking is bad for babies!); genetic variances between people (some people metabolise caffeine faster than others, therefore some fetuses metabolise the caffeine faster than others); the broad variation in actual caffeine content of various coffees and foods; the fact that most studies rely on patients to self-report their food and beverage (ie the pregnant person in the study tries to remember their caffeine intake – and we know how good a pregnant woman’s memory is!!); the blood concentration of caffeine is usually not accurately measured.

So taking all these factors into account it is very difficult to demonstrate with scientific certainty what caffeine does to the developing fetus. However, it is agreed between many learned organisations across Australia, the UK, Canada and the USA (amongst many other countries), that low to moderate caffeine consumption is NOT associated with birth defects. There is possibly a slight drop in birthweight of those babies born to mothers with moderate caffeine consumption but this appears to be an insignificant amount (about 50 to 70g).

There does NOT appear to be a link to miscarriage at moderate levels of caffeine consumption.

There does NOT appear to be any long-term harm from caffeine consumption.

There does NOT appear to be a link to premature birth.

So what is recommended as acceptable caffeine consumption? Most organisations agree that 200-300mg of caffeine daily is safe. What does this mean? Well an instant coffee is ABOUT 100mg (but who would want to drink that anyway?). Even decaf has some caffeine (about 5mg and ditto). A brewed or plunger style coffee is about 150-200mg and an expresso is about 200-300mg. Chocolate has about 5-10mg (a cup of chocolate). Tea has up to 50mg, green tea about 30mg. Soft drinks contain about 50mg per can but energy drinks are higher.

What do I think? Well I was caffeine free for my first baby (the peak of my good behaviour, just like most pregnant women with their first baby), my second I fell off the wagon – mugs and mugs of coffee daily (but he is a naughty little teenage liar now at the age of 13 – ???? – make your own associations!) and nos 3 and 4 I was BALANCED with a moderate approach (they are not liars). So I think it should be most wisely avoided in first trimester but a weak coffee is fine and for the desperate I think 1 expresso a day (or equivalent) is perfectly acceptable. For second and third trimesters I think 2 expressos daily is acceptable (a morning kick start and an afternoon booster) but if there are any other factors that may be affecting placental function probably best to avoid caffeine or just have a weak coffee.

Ironically, the studies suggest that moderate caffeine intake prior to conception seems to PROTECT against diabetes of pregnancy and caffeine intake during pregnancy PROTECTS again pre-eclampsia but…. I am skeptical so don’t use it as a justification for caffeine frenzy…..that can wait until AFTER the birth…along with the soft cheese and sushi frenzy…..

Morning Sickness: What Works?

Aug 5, 2014

Found an interesting and informative article regarding morning sickness on the abc website.

http://www.abc.net.au/health/features/stories/2014/06/25/4028941.htm