Pre-Conception Testing as Preventative Medicine

Written by Dr Lionel Wu

Dr Lionel Wu is a general practitioner and principal of Medifirst Family Clinic in Melbourne’s south-east. Dr Wu obtained his Diploma in Paediatric Qualifications in 2011 through Sydney University’s Westmead Hospital. He has a special interest in paediatrics and obstetrics and has attended many courses and seminars in these specialist areas. Dr Wu opened MediFirst Family Clinic five years ago to cater for the multicultural demographic in the clinic’s surrounding area and to aid patients in proactively managing their health.

In this article, Dr Wu discusses why pre-conception testing, including fertility testing, is essential in managing a patient’s physical and mental health.

Pre-conception testing for women is vital, as it acts as a measure by identifying potential health issues which can be treated or resolved early, thus preventing pregnancy related issues that may arise in the future.

At Medifirst Family Clinic, we see a lot of women for preconception planning and pregnancy management. About 30% of our patients are first-time mums, or the second- or third-time mums of our paediatric patients. The women that come for a pre-conception planning appointment often ask me about what tests they require and what they need to do in order to get pregnant.

Below, I outline and discuss the tests I always offer to patients considering a pregnancy, including some nonroutine tests that I believe are equally as important.

Grouping pre-conception tests into three important categories

I have divided the following pre-conception pathology tests that I routinely order for my patients into three groups.

Group 1: First things first, testing for overall wellness

Thyroid function

I always check a patient’s thyroid function as part of the pre-conception general wellness tests because thyroid hormone imbalances can affect a woman’s fertility. If a woman doesn’t have enough thyroid hormones in her body, this will affect her ovulation and fertility. In a male, low levels will also affect sperm production. Having healthy thyroid hormone levels in both parents is extremely important for a successful conception. An underactive thyroid can be treated with hormone replacement tablets, however, the patient will require continual monitoring throughout her pregnancy while undergoing treatment.

Sex hormones and their roles

As part of pre-conception screening, I also include tests to measure important hormones.

Follicle-stimulating hormone (FSH) is the first in a cascade of hormones that are necessary to launch a patient’s pregnancy, and FSH is present before she even conceives.

Luteinizing hormone (LH) works in concert with FSH to orchestrate the menstrual cycle. Both FSH and LH are inactive during pregnancy, itself.

Progesterone is a hormone produced by the ovaries and the placenta during pregnancy. It stimulates the thickening of the uterine lining for implantation of a fertilized egg. Normally, a 21st day progesterone level is ordered to check if a woman has successfully ovulated.

The oestrogen group of hormones helps develop female sexual traits. It is normally formed in the ovaries. It is also made by the placenta during pregnancy to help maintain a healthy pregnancy.

Folate and fetal spinal cord development

One of the first things I check is whether the patient has adequate levels of folate in her body. Insufficient folate levels can result in developmental problems, such as spina bifida. The current recommendation is for folate to be taken three months before conception; so, the minute a woman comes in for her pre-conception appointment, I will recommend that she starts taking folate immediately.

Iron deficiency resulting in fatigue and anaemia

Ensuring a woman has adequate iron levels before pregnancy is very important, as iron deficiency is a commonly seen problem in pregnant women – particularly towards the later stages of pregnancy. Pregnant women can become severely iron deficient, leading to anaemia. This can result in them becoming very tired and fatigued and, in certain cases, even experiencing trouble with breathing.

This is why I routinely monitor a woman’s iron levels at different stages of her pregnancy. If the patient is iron deficient, I generally recommend that she increases her meat intake as well as take an iron supplement continuously, until she gives birth.

‘As general practitioners, I think we are like the gatekeepers of the community’s health – the go-to persons with regard to their health issues.’

Timely cervical screening test

As part of the pre-conception general wellness tests, I always recommend a cervical screening test with STI (sexually transmitted infection) screening, as both can be performed at the same time. We have two female doctors at Medifirst Family Clinic who can perform this test, if patients are comfortable with having it done. Generally, most obstetricians would like their patients to be up-todate with their Pap smears before they fall pregnant. As general practitioners, we want our patients to take all the recommended routine tests to ensure that they are managing their ongoing health and as a preventative measure for their general well-being.

Screening for hereditary blood disorders

In addition to the routine general wellness tests, such as FBE and those listed above, another test I always recommend is haemoglobinopathy screening, as some patients may be carriers of conditions, such as thalassemia or sickle cell anaemia, without being aware of it. If both parents are carriers of thalassemia, there is a one-in-four risk that their baby may be born with the disease, which can have devastating and lethal consequences. Thalassemia is more common in Asian, African and Mediterranean cultures, which is why I offer this test to all patients, given Melbourne’s very diverse population. This testing is separate from genetic carrier screening, which I also offer my patients.

Group 2: Screening for infectious diseases

Devastating effect of infections on pregnancy

During their pregnancy, it is essential that women are protected from infections, such as measles, mumps, rubella, and varicella. These diseases have devastating effects by causing life-long disabilities on unborn babies, such as malformed limbs or permanent deafness or blindness. Therefore, it is vital for pregnant women to get immunised if they don’t have enough protection to carry them through their pregnancies.

The same goes for hepatitis A and B. I would strongly encourage women to protect themselves through immunisation.

When ordering tests to screen for infectious diseases, I also routinely run an immunity check for parvovirus, which is commonly known as ‘slapped cheek’ syndrome. If a patient contracts this infection while she is pregnant, the likelihood of a miscarriage increases dramatically, making this a highly important pre-conception test to have.

Toxoplasmosis is another infection that increases the risk of miscarriage in pregnancy. It is caused by a common parasite, toxoplasma, that resides in the gut of cats. In general, if you contracted toxoplasmosis before becoming pregnant, your immunity will protect your unborn child. Some experts suggest a 6-month wait after a recent infection before attempting to conceive. I normally recommend that if a woman has a cat at home, her partner should undertake the feeding and cleaning of the pet.

Screening for STIs (sexually transmitted infections), in particular chlamydia and gonorrhoea, is also very important, as these infections may cause PID (pelvic inflammatory disease). It is a major cause of tubal pregnancy (ectopic pregnancy). An ectopic pregnancy can occur when untreated PID causes scar tissue to develop in the fallopian tubes. The scar tissue prevents the fertilized egg from making its way through the fallopian tube to implant in the uterus. Scarring of the fallopian tubes may also cause subfertility in some women.

Rescreening high-risk women for syphilis in the 3rd trimester

There has been an alarming increase in the number of cases of infectious syphilis reported in Victoria, with numbers nearly tripling from 634 in 2014 to 1670 in 2019. Of note is the number of women of reproductive age, in their 20’s and 30’s, contracting the infectious disease. If a woman contracts syphilis while pregnant and the disease is left untreated, the effects can be catastrophic. Congenital syphilis can lead to miscarriage, stillbirth, premature birth, low birth weight and other health issues in the baby. In July this year, Victoria’s Chief Health Officer, Professor Brett Sutton, issued health professionals with new advice for testing pregnant women for syphilis.

Latest antenatal testing advice for syphilis:

• Screen all pregnant women for syphilis during routine antenatal testing in the first trimester
• Re-screen women at high risk of contracting syphilis again between 28-32 weeks and at delivery
• Re-screen women in later pregnancy with clinical signs of any sexually transmitted infection, including a discharge or ulcers

Treatment and follow-up

To avoid congenital syphilis, the disease should be treated with long-acting (benzathine) penicillin. Partner tracing and treatment is also required. Babies born to mothers with syphilis in pregnancy should be followed up by a specialist.

Group 3: Specific fertility tests

Why early fertility testing is so vital

Many fertility issues can be dealt with, treated or even cured, if they are diagnosed early. If not, the financial as well as the psychological and emotional devastation on the patients can be phenomenal. The impact on their well-being is similar to that of someone who has had a heart attack or stroke. This is why it is so important to identify potential problems as early as possible.

When we check and monitor patients’ cholesterol levels, we hope to prevent heart attacks or strokes. Similarly, when we conduct early tests and screening for fertility issues in women, it is to avoid a lot of heartache later on.

Patient age and fertility

If a patient has difficulty conceiving, I will advise a fertility test. I will take into account the patient’s age and how long
she has been trying to conceive.

Recommended fertility tests

These are the fertility tests that I order for my female patients:

•  Anti-Müllerian hormone (AMH), to check the woman’s ovarian reserve
• Pelvic ultrasound (US), to screen for endometriosis, adenomyosis, fibroid and polycystic ovarian syndrome (PCOS).
  
  

Polycystic ovarian syndrome – fertility issues explained

In addition to routine fertility hormone tests, I also run androgen tests to check for PCOS which is caused by an imbalance of reproductive hormones. The hormonal imbalances can interfere with the growth and release of eggs from the ovaries and be a potential cause of infertility.

The importance of pre-conception testing

As general practitioners, I think we act like the gatekeepers of the community’s health – we are their go-to persons in regard to their health issues.

We perform preventative medicine, such as tests for cholesterol and diabetes, to help prevent heart attacks and strokes. At the same time, and equally important, we help women and couples who want to have a family but have trouble conceiving.

And, by advising them on fundamental tests that are needed early, we fulfil a responsible role in helping them prepare for a healthy pregnancy and baby.