Ellie’s Story – QUFW Storytime – Episode 1

Ellie’s Story – QUFW Storytime – Episode 1

What an incredible story! Jess was diagnosed with pre-eclampsia at week 27 of her pregnancy. Together with her partner Emma (and advice from their medical team), they made the decision to deliver their baby a week later. This short documentary, exclusive to QUFW, explores Emma and Jess’ experience with pre-eclampsia, how it felt to deliver their daughter 12 weeks early, and of course the happy little girl they have in their arms today 💕!

This is part one of QUFW’s StoryTime feature video series. If you have a story you’d love to share, we’d love to hear it. To get in touch, please contact us here.

Important Notice: QUFW’s Southport Location Has Moved, And Swell Women’s Ultrasound Has Changed Name & Location

Important Notice: QUFW’s Southport Location Has Moved, And Swell Women’s Ultrasound Has Changed Name & Location

As part of our commitment to providing exemplary care in women’s ultrasound in the Southport area, we have made some significant changes to our Southport clinics. These changes will affect our patients and our referring doctors.

These important changes are as follows:

1. QUFW’s Southport clinic is now located at a new physical address.

From Monday 3 July 2023, QUFW’s Southport location, at Suite 2401, Level 4, Southport Central Tower 2, 5 Lawson Street, Southport, moved to Level 4, 7 Short St, Southport. The Lawson Street clinic closed at 5pm on Friday 30 June 2023, and is no longer accepting patients at this location.

 

2. Swell Women’s Ultrasound is now located at a new physical address.

As you may know, on Tuesday 18 April 2023, Swell Women’s Ultrasound was acquired by QUFW. From Monday 3 July 2023, the team and facilities at Swell Women’s Ultrasound moved to Level 4, 7 Short St, Southport. The clinic at 134 Queen Street Southport closed at 5pm on Friday 30 June 2023, and is no longer accept patients at this location.

 

3. Swell Women’s Ultrasound’s name has changed to QUFW.

From Monday 3 July 2023, Swell Women’s Ultrasound’s name changed to QUFW. The friendly and experienced team at Swell Women’s Ultrasound are now QUFW team members. Any current patients of Swell Women’s Ultrasound will be welcomed as patients under the QUFW banner. There will be no interruptions to any current patients of Swell Women’s Ultrasound. 

 

QUFW’s brand new location at Level 4, 7 Short St Southport features:

  • A purpose-built facility featuring a bright, warm and welcoming patient waiting area
  • 4 ultrasound scanning rooms
  • Advanced reporting and analysis technology
  • NIPT collection facilities
  • Metered parking – 4 hour metered parking is available on Short Street or additional car parking available in the Gold Coast City Council Carey Car Park and Australia Fair Shopping Centre.

Our valued referring doctors will be provided with updated referral forms over the coming weeks.

We are excited about our new Southport home and, as always, we look forward to supporting you and your patients. We are here for you.

You can learn more about Swell Women’s Ultrasound here. For more information, or if you have any questions about this information, please call 07 3831 1777.

What is Preeclampsia? Let’s look at symptoms, causes, and treatments.

What is Preeclampsia? Let’s look at symptoms, causes, and treatments.

 

Preeclampsia is a relatively common pregnancy-related condition that may affect around 5% of women in their pregnancies in Australia. It is characterised by high maternal blood pressure as well as evidence of an impact on other organ systems including the mother’s liver, kidneys or nervous system. Preeclampsia may also impact on the placenta, where it can inhibit growth of the baby.

Preeclampsia results from deficiencies in the early development of the placenta, in the first and early second trimester of the pregnancy. Research is still trying to understand exactly how this causes the symptoms of preeclampsia later in a pregnancy. 

In most cases, preeclampsia is diagnosed in the third trimester of pregnancy. It is more common in first time mothers, women who already have medical conditions such as high blood pressure, diabetes or some autoimmune conditions, and those carrying multiple pregnancies.

Early detection and treatment is important, as it may occur without noticeable symptoms to the mother. It has been shown that offering aspirin to this group will significantly reduce their likelihood of developing preeclampsia before 37 weeks. Whilst delivery of the baby and placenta are considered the only cure for preeclampsia, close monitoring of the mother is required for several days after delivery, as the effects can take up to a week to resolve.

At QUFW, we screen all women at the time of their 13-14 week scan to see if they are at increased risk of developing early onset preeclampsia. We’re also proud supporters of Preeclampsia Awareness Month, which is in May. 

This fact sheet answers these questions:


 

What is preeclampsia?

Preeclampsia is a pregnancy complication defined by these clinical features:

  • Pregnancy-induced hypertension (high blood pressure) greater than or equal to 140/90 mm Hg, alongside:
    • Proteinuria (protein in the urine),
    • Maternal organ dysfunction (a problem with the mother’s organs or bodily systems),
    • And/or uteroplacental dysfunction resulting in fetal growth restriction (problems with the function of the placenta resulting in problems for baby)

 

What are other signs and symptoms of preeclampsia?

Other signs and symptoms of preeclampsia may include:

  • Headaches
  • Sensitivity to light 
  • Pain in your abdomen
  • Feeling sick
  • Sudden weight gain, or swelling 

 

How is preeclampsia screened?

At QUFW, we routinely screen for preeclampsia at the time of the nuchal and early anatomy scans. 

The screening process involves:

  • Asking questions to better understand your medical history 
  • Measuring your height and weight 
  • Assessing your blood pressure
  • Using ultrasound to assess blood flow to the uterus 
  • Reviewing results of biochemistry testing (PAPP A and/or Placental Growth Factor)

If the risk is calculated to be greater than 1 in 100 of developing early onset preeclampsia before 37 weeks, it is considered a high risk result. 

There is good evidence to suggest a benefit in starting aspirin in women who screen high risk for preeclampsia. Whilst this may not stop you getting preeclampsia, it is likely that being on low dose aspirin will delay the onset of preeclampsia. When low dose aspirin (100-150 mg taken at night time) is started before 16 weeks in high risk women, it has been shown to reduce the incidence of early onset preeclampsia (diagnosis made before 32 weeks) by 62%. This is important as, at a later gestation, the option for delivery as a treatment has less impact on a mother and baby. There is a very low side-effect profile of taking low dose aspirin in a pregnancy.

Ultrasound of the blood flow through a uterine artery
(Transabdominal assessment of the uterine artery Doppler waveform in the first trimester)

 

How often should I have check-ups to monitor for preeclampsia?

It is part of the routine antenatal care. Please speak with your obstetric specialist to learn more.

 

How is preeclampsia treated?

Other than delivery, there is no cure for preeclampsia. However, it can be managed during your pregnancy with close monitoring of you and baby, and often medication to control your symptoms. 

Preeclampsia, and pregnancies, vary so whilst some mothers may be quite stable for weeks after a diagnosis, others may progress more rapidly and require delivery earlier. Your Obstetrician will be able to guide you, and monitor you closely after a diagnosis.

 

Can preeclampsia be prevented?

Although low dose aspirin reduces the risk of early onset pre-eclampsia in high risk women, there is no way to prevent all cases of preeclampsia. There are some steps that you can take to both reduce your risk factors for developing pre-eclampsia, and to ensure it is detected early. These steps include:

  • Attending regular antenatal checkups
  • Controlling chronic health conditions like hypertension or diabetes
  • Maintaining a healthy weight

 

Who is at risk of developing preeclampsia?

While any pregnant woman can develop preeclampsia, there are some factors that may increase the risk. These include:

  • Having a history of preeclampsia in a previous pregnancy, or a family history of the condition
  • Being pregnant for the first time
  • Having certain medical conditions such as hypertension or diabetes
  • Being over the age of 35
  • Carrying multiple babies
  • Being overweight 

Women who have one or more of these risk factors should be monitored by their treating obstetrician/midwife closely during pregnancy for signs of preeclampsia.

 

How does preeclampsia affect my baby’s health?

Preeclampsia occurs partly because the early placenta does not develop properly. Later on in pregnancy, in addition to impacting the mothers health, preeclampsia impacts the way the placenta functions and how well it can supply the baby. When placental blood flow is restricted, this can impact delivery of oxygen and nutrients to the baby and result in fetal growth restriction, increasing the chance of preterm birth and stillbirth. 

In severe cases of preeclampsia, a condition called ‘placental abruption’ may occur. This is where the uterus and the placenta separate and cause a life-threatening situation for both mother and baby.

 

How will preeclampsia affect my delivery plan?

The stage of your pregnancy and the severity of your preeclampsia symptoms may impact your birth plan. Your obstetric specialist will work with you to develop a delivery plan that takes into account your individual circumstances and ensures the safest possible outcome for both you and your baby.

 

Can I continue to work if I have been diagnosed with preeclampsia?

If your preeclampsia is mild and you are able to manage your symptoms, you may be able to continue working with modifications to your job duties or schedule. However, if your preeclampsia is severe or if your job involves physical exertion or high levels of stress, you may need to take time off from work or adjust your duties to reduce the risk of complications. 

It is important to discuss your individual circumstances with your obstetric specialist and employer to determine what accommodations may be necessary to ensure a safe and healthy pregnancy.

 

Will I be hospitalised if I’m diagnosed with preeclampsia?

If your preeclampsia is mild, your obstetric specialist may recommend close monitoring as an outpatient, with regular antenatal checkups and additional testing as needed. 

However, if preeclampsia is severe or if the health of the mother or baby is at risk, hospitalisation may be necessary to monitor blood pressure, assess organ function, and ensure a safe delivery if necessary. 

Your obstetric specialist will work with you to develop a treatment plan that ensures the best possible outcome for both you and your baby.

 

If I’ve had preeclampsia in a previous pregnancy, will I get it again?

There is an increased statistical risk of developing preeclampsia again if it was experienced in a previous pregnancy. The likelihood of recurrence will depend on:

  • The severity of your previous preeclampsia symptoms
  • How early it occurred
  • Other risk factors that may be present in the current pregnancy 

Your obstetric specialist will closely monitor you for signs of preeclampsia and may recommend additional testing or interventions to manage the condition. It is important to discuss your individual risk factors with your obstetric specialist and to follow their recommendations for a safe and healthy pregnancy.

 

Can I get preeclampsia after I give birth?

In the majority of cases, preeclampsia is diagnosed during a pregnancy, however it can also be diagnosed for the first time during your labour and delivery, or in the early postpartum phase. 

Whilst delivery is the cure for preeclampsia, some of the factors circulating in your bloodstream from the placenta remain for a while after delivery, and this explains how preeclampsia can occasionally become more severe shortly after delivery, or be diagnosed then for the first time. In most cases, this is within the first 2-3 days after birth, and only rarely would a postpartum diagnosis be made weeks after you have delivered your baby.

 

Can aspirin treat preeclampsia?

The ASPRE trial showed that the chance of developing preeclampsia before 34 weeks was reduced by 82% and before 37 weeks by 62% if the mother was taking low dose aspirin (100-150mg at night, started before 16 weeks).

Aspirin has been used widely now around the world in pregnancy and is considered to be safe to take during pregnancy. Please consult your GP or obstetric doctor before taking any medication.

 

How can I manage stress and anxiety related to a preeclampsia diagnosis?

Being diagnosed with preeclampsia can be a stressful and anxiety-inducing experience. Seeking support from friends, family, or a mental health professional can also be helpful in managing anxiety. Educating yourself about preeclampsia and its treatment can also help alleviate anxiety and provide a sense of control. 

It is important to communicate openly with your obstetric specialist about your concerns and to follow their recommendations for a safe and healthy pregnancy.

 

Further reading

 

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Content Disclaimer

The information provided on this website is for educational and informational purposes only. It is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your obstetric doctor or other qualified provider with any questions you may have regarding a medical condition or treatment and before undertaking a new healthcare regimen. 

The content on this website is not intended to be a comprehensive source of information on any particular topic and should not be relied upon as such. The authors and publishers of this website are not liable for any damages or injury resulting from the use or misuse of the information provided on this website.

What is prenatal testing? And what is NIPT?

What is prenatal testing? And what is NIPT?

 

Prenatal testing helps doctors and obstetric specialists understand how your pregnancy is progressing. It looks for complications or issues that may be affecting you or your unborn baby. 

Prenatal testing refers to a range of tests which can be performed in a pregnancy to either give a prediction or probability of complications, or to offer definitive diagnosis. This includes screening for maternal complications such as pre-eclampsia, but most commonly refers to screening for chromosomal differences. There are a range of available prenatal tests, and they are either conducted as part of a routine process (this is called screening), or as part of a diagnostic process to diagnose a specific condition, or when screening has suggested a high probability of complication (this is called a diagnostic test). Prenatal screening may be as simple as a blood test, or, if diagnosis is needed, may involve an invasive procedure.

At QUFW, we can offer a range of prenatal screening , including non-invasive prenatal testing (“NIPT”), and diagnostic testing in the form of CVS (chorionic villus sampling) or amniocentesis. We’re also passionate about educating our patients and community about prenatal testing. 

This fact sheet answers these questions:


What is prenatal screening?

Prenatal screening is available to all pregnant women. There are different types of prenatal screening available, which differ in both accuracy of their predictions and their cost. They also vary in the detail of information that they can provide. In making the decision of which test, if any, is right for you, it is important to understand not just what the test can provide, but also its limitations. 

It is your choice whether or not to have prenatal screening for chromosomal anomalies. Your healthcare provider will be able to help you in making the decision of whether prenatal screening is right for you, and if so, which type of screening you prefer.

At QUFW, we provide both First Trimester Combined Screening and NIPT (non-invasive prenatal screening).

In certain circumstances, such as high probability result on screening, or known history of inherited genetic conditions, diagnostic testing may be indicated in a pregnancy. In this circumstance, we can guide you as to the next steps. 

Image showing fetal heart rate confirming live pregnancy.

 

What is a genetic abnormality?

A genetic abnormality occurs when a person’s genes or chromosomes don’t function like they normally should. Genetic or chromosomal abnormalities occur in different ways. For example:

  • An extra chromosome may be present (this is called ‘trisomy’)
  • A chromosome may be missing (this is called ‘monosomy’)
  • Copy number variants (CNVs) include missing (deletions) or extra pieces (duplications) of chromosomes
  • Single gene mutations can occur. These impact a very small amount of genetic information, but sometimes in a critical way that impacts its function. Single gene deletions can cause conditions such as cystic fibrosis, thalassemia and sickle cell disease.

Prenatal screening tests differ in their sensitivity (accuracy of prediction), and in the range and depth of chromosomal or genetic changes that they can predict.

 

What conditions does prenatal screening look for?

The prediction of prenatal screening depends upon the type of test that you choose. 

  1. Combined first trimester screening (CFTS) is a combination of a blood test and early ultrasound. It provides a prediction of common aneuploidy (an extra copy of a chromosome) only: 
  • Trisomy 21 (Downs Syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome) 

This test provides a number based prediction of probability of one of the above major chromosomal conditions based on association only. That means that the calculation of risk looks at features, both of the mother and the pregnancy, and how likely they are to be associated with a pregnancy impacted by one of the above chromosomal anomalies. It is important to remember then that there can be many other reasons for a high probability result on this type of testing, not just aneuploidy as listed above. 

  1. Non-invasive prenatal testing (NIPT)

NIPT is a non-invasive way of screening for major chromosomal anomalies. It involves a blood test which is analysed in the lab to detect fragments of circulating placental DNA. Using the assumption that placental and fetal DNA are the same (true in most, but not all cases), the NIPT can then analyse the DNA sample to look for abnormalities in the amount of chromosomal material.

 There are various platforms for this testing, which, depending on their depth, can offer a prediction for: 

  • Major trisomies i.e. an extra copy of a chromosome (Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13)).
  • Rare trisomies (ie. an extra copy of any of the chromosomes other than chromosome 21, 13 or 18. 
  • Sex chromosome abnormalities (eg. Turner syndrome, Klinefelter syndrome, Triple X syndrome, and XYY syndrome).
  • Conditions caused by changes to chromosome structure (missing or extra pieces of chromosomes).
  • Microdeletions (such as DiGeorge syndrome and Prader-Willi syndrome).

A result from a NIPT test will be reported as ‘low probability’ or ‘high probability’ only. 

NIPT is considered to be a highly sensitive screening test. This means that, when it returns a low probability result, it is very rare that the test would ‘miss’ reporting a major chromosomal anomaly. 

There can however be ‘false positive’ results – this is when a NIPT reports a high probability result, where diagnostic testing later proves that the fetus is not affected. 

 

Can prenatal testing detect all birth defects and/or genetic disorders? How accurate is it?

It is important to remember that even highly sensitive screening tests such as NIPT are not diagnostic, and only offer a prediction or probability of a chromosomal condition.

No screening test in pregnancy will be able to totally exclude the possibility of any genetic anomaly in an unborn baby.

 

Can prenatal testing tell me the sex of my baby?

NIPT can predict the sex of your baby by detecting the presence or absence of the Y chromosome.

 

What if I don’t want to know the sex of my baby?

If you have a prenatal test and don’t want to know the sex of your baby, please tell your doctor or obstetric specialist. It is not compulsory to be told the sex of your baby before it is born.

 

Is prenatal screening compulsory?

Prenatal screening is not compulsory. It is a choice for your family. Your medical practitioner can guide you through the process of making this decision. 

It is important to remember that antenatal diagnosis of major chromosomal anomalies in a fetus can help medical providers to tailor your care during pregnancy. This means that even if antenatal diagnosis of a major chromosomal difference would not alter your decision making in a pregnancy, the knowledge that your baby has a chromosomal or genetic difference can help improve care, surveillance and tailor delivery planning to ensure the best outcomes for you and your baby. 

The choice of whether to have screening, and what to do with the result of that screening, is yours every step of the way. 

 

What happens if prenatal screening returns a high probability result? 

If you receive a high probability result on a prenatal screening test (greater than 1:300 risk from CFTS or a high probability result on NIPT), your doctor or obstetric specialist will explain what it means and will counsel you on your options. They will answer your questions and help you make the best possible decision for you and your pregnancy. 

Remembering that, as screening tests, CFTS and NIPT are not diagnostic, further testing may be offered. Diagnostic tests available in a pregnancy include chorionic villus sampling (CVS) and amniocentesis. These are both needle tests which carry a small procedure-related risk which will be explained by the specialist if you choose to have a test. 

  • Chorionic Villus Sampling (CVS): This test takes a sample of cells from the placenta through a thin needle inserted, most commonly, through the mother’s abdomen. It can be performed from a gestational age of eleven weeks. 
  • Amniocentesis: This test involves a thin needle placed through the maternal abdomen to take a sample of amniotic fluid from around the fetus. Amniocentesis can be performed from a gestational age of fifteen weeks. 

If diagnostic testing is required you will be referred for a consultation with a specialist who will explain the types of testing available, risks associated, and the procedure itself. There may be some circumstances in which an amniocentesis may be beneficial instead of a CVS, and this will be explained. 

Additionally, the doctor will explain the testing which will be done in the lab on the sample that has been obtained. This includes a short term result (FISH) and long term result (chromosomal microarray). In certain circumstances there may be indication to also perform more detailed testing such as whole exome sequencing (WES). In these circumstances, consultation with a Clinical Geneticist will be arranged to ensure you are adequately informed of the testing. 

 

Can I opt to have diagnostic testing i.e. CVS or amniocentesis without having a screening test?

Yes. If you want certainty about your baby’s chromosomes and some genetic conditions, you can opt to have a CVS or amniocentesis without having NIPT or CFTS prior.  

It is important to note that with current technology even a diagnostic test will not exclude all genetic conditions but it will be able to exclude chromosomal abnormalities and many genetic conditions. 

 

If I have a high-risk pregnancy, will I need more testing than others?

This depends on the nature of your pregnancy. Remember that there are different types of risks, and risk of growth restriction or maternal complications does not necessarily mean an increased risk of chromosomal anomalies. Please speak to your doctor or obstetric specialist for more information about your specific situation.

 

Can prenatal testing be harmful to my baby?

Screening tests, such as CFTS (combined first trimester screening) and NIPT, are non invasive.  In the case of NIPT, only a blood test from the mother is needed. In the case of CFTS, only a blood test and ultrasound is needed. These do not carry any risk to your baby. 

Diagnostic tests such as CVS and amniocentesis do carry some risks to your pregnancy.  These include a small (1/800-1/100) risk of miscarriage if performed <24 weeks or preterm birth if performed >24 weeks gestation.  There is also a very small risk of premature rupture of membranes (PPROM) or infection.  There is also a very small risk of damage to maternal bowel which can result in a very serious infection in the mother. 

If you are concerned about a certain prenatal test and the risk it carries, please discuss it with your doctor or obstetric specialist. 

 

Can prenatal screening be performed if I’m carrying multiple babies (twins, triplets, etc.)?

In short, yes.

If opting for CFTS, the indices used in the calculation may differ slightly, but a risk can be provided. 

If opting for NIPT, the multiple pregnancy must be noted on the request form. In the case of triplet pregnancy, only some providers of NIPT are able to provide a result, and so this testing should be ordered in consultation with your Obstetrician.

 

If I opt for the NIPT why do I still need an early ultrasound? 

NIPT is a highly sensitive screening test for major chromosomal anomalies. 

However, not all major fetal structural anomalies e.g. anencephaly, spina bifida, are associated with major chromosomal anomaly. Whilst a low probability NIPT test may provide excellent reassurance of the absence of aneuploidy (an abnormal number of chromosomes), it cannot comment at all on the structural development of your baby. 

For this reason, a detailed structural ultrasound at around 13 weeks is recommended in all pregnancies. If you opt instead for the CFTS, this will be performed at the time of the nuchal translucency ultrasound. 

 

How much does a NIPT test cost?

At the moment, there is no government funding for NIPT. This means you are required to pay for your NIPT test. If you would like further information about the NIPT test, including costing and timeframes, please speak to us. The cost will be affected by the brand/company used.  

 

What is prenatal carrier screening? 

Prenatal carrier screening should be offered to all couples planning a pregnancy. This is a different test to NIPT, and screens the parents genes rather than predicting whether a baby is affected. It tests for whether parents carry a range of serious genetic conditions which could be inherited by their baby. Ideally, prenatal carrier screening should be done prior to a pregnancy to allow for appropriate counselling if both parents are found to be carriers, however it can also be performed during pregnancy. 

There are different platforms for carrier screening. The basic ‘trio’ test looks for carriage of: 

  • Cystic fibrosis
  • Fragile X syndrome
  • Spinal Muscular Atrophy

Extended carrier screening tests are also available that can test for carriage of >500 conditions. 

It is important to remember that many genetic conditions such as Cystic Fibrosis are recessive – meaning that an individual would need to inherit two copies of an affected gene, one from each parent. This means that the absence of a family history of genetic conditions does not mean there is no risk of having a baby with a genetic condition. In fact, most cases of these recessive conditions occur for the first time in families with no known history. 

 

Further reading

Content Disclaimer

The information provided on this website is for educational and informational purposes only. It is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition or treatment and before undertaking a new healthcare regimen. 

The content on this website is not intended to be a comprehensive source of information on any particular topic and should not be relied upon as such. The authors and publishers of this website are not liable for any damages or injury resulting from the use or misuse of the information provided on this website.