Treatments and Services

A Non Invasive Prenatal Test (NIPT) offers pregnant women an early, accurate and personalised option for determining the risk of carrying a fetus with common genetic conditions, including Down syndrome (T21) and Edward syndrome (T18). With a simple blood draw, the test can be performed as early as 10 weeks of pregnancy.

The Monash Ultrasound for Women has developed NIPT test, nest™ in order to offer the lowest failure rate with the quickest turn around time.

How does nest work?

A sample of your blood is drawn and the genetic material (DNA) from you and your baby is tested. The nest screening is a more precise method, using an advanced technology called ‘massively parallel sequencing’ to analyse millions of DNA fragments per sample and accurately count the number of chromosomes present. It then uses a special calculation method to determine if your baby has too many or too few copies of particular chromosomes.

What does nest screen for?

Chromosomes normally come in pairs. Most individuals have 23 pairs of chromosomes. nest looks for too few or too many copies of chromosomes.

Missing or extra copies of chromosomes can be associated with intellectual or physical disabilities with differing levels of severity. The most commonly seen chromosomal conditions include trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and trisomy 13 (Patau syndrome) all of which can be accurately detected with nest.

nest can also be used to screen for sex chromosome conditions (if requested by a doctor) such as Turner syndrome (only one X chromosome in a female) or Klinefelter syndrome (an extra X chromosome in a male). Other possible sex chromosome conditions are Triple X syndrome (an extra X chromosome in a female) and Jacob syndrome (an extra Y chromosome in a male). You can also elect to have the gender of the baby reported.

What do my nest results mean?

Your results will tell your doctor whether or not trisomies 21, 18, 13 or sex chromosome conditions (if ordered) are likely to be present in your pregnancy. In the case of a high probability result, your doctor and genetic counsellor will discuss what the results mean to your pregnancy as well as further testing options to consider.

Your test will include one of two possible results for chromosomes 21, 18 and 13:

1. Low probability – means the expected number of chromosomes were found.
2. High probability – means too many or too few copies of one of the chromosomes have been identified. This can indicate a chromosome condition. Diagnostic testing is recommended for confirmation.

If the sex chromosome option is ordered, results will be reported as either low or high probability. If gender is requested this will be labelled as male or female.

nest genetic counselling

Highly trained nest genetic counsellors are available if requested by your doctor to explain this technology and how the results will be reported. They may also deliver your results if requested. Having a deep understanding of this technology gives them the skills to interpret the results and assist in explaining them. If the results do come back showing a high probability, the genetic counsellor can assist in explaining the next steps.

What is Chorionic Villous Sampling?

Chorionic Villous Sampling is a procedure that collects a small sample of placental tissue . The cells of the placenta have the same genetic material as the fetus and can therefore be tested for genetic abnormalities such as Down Syndrome.

Who is offered CVS?

Most testing by CVS is offered to patients who are high risk for chromosome abnormalities. This may include:

• Abnormal first trimester screen results
• Increased nuchal translucency or other abnormal ultrasound findings
• Family history of a chromosomal abnormality or other genetic disorder
• Parents are known carriers for a genetic disorder
• Advanced maternal age (maternal age above 37).

How is the test performed?

The test is performed at the ultrasound clinic by an Obstetrician Gynaecologist Sonologist (specialist ultrasound doctor).

The skin of the lower abdominal wall is cleansed with an antiseptic alcohol based solution. The skin and underlying tissues are injected with local anaesthetic. With ultrasound control, a fine needle is then guided into the placenta and a biopsy of placenta tissue (chorionic villi) is taken.

The needle itself is at all times well distanced from the baby. In fact when the biopsy is taken the needle is positioned outside the pregnancy sac.

When is the test performed?

Ideally the test is performed between 11 weeks 2 days and 13 weeks 5 days gestation

What preparation do I need before the test?

You will need to bring a:

• Referral from your doctor
• Reports for the pregnancy that were performed elsewhere
• Your blood group card

A moderate amount of fluid in the bladder is preferable. This can help make the uterus more accessible for the needle test.

How is the placental tissue analysed?

The specimen is sent to a laboratory to be processed. The tissue is placed in a culture medium and then into an incubator for several days. When there are sufficient numbers of dividing cells the specimen is removed from the incubator and the placental cells are split open with an enzyme. The individual chromosomes are counted and analysed.

Every cell should contain 23 pairs of chromosomes. As every pair is analysed, the results not only indicate the presence or absence of an extra chromosome number 21(Down Syndrome), but excludes chromosome abnormalities in the other 22 chromosome pairs.

In addition, each chromosome pair is stained with a special dye and examined under ultraviolet light. The individual bands of each chromosome are examined in great detail for subtle genetic abnormalities such as:

• Insertion of genetic material into a chromosome
• Deletion of genetic material from a chromosome and
• Exchanging of genetic material between chromosomes (translocation).

This test excludes not only Down syndrome, but a wide variety of subtle and major chromosome abnormalities.

What should I do after the test?

It is advisable for someone to take you home after the test and that you rest for the remainder of the day. This does not mean you should confine yourself to bed but rather you should just rest at home and avoid any strenuous activity including lifting any heavy weights.

Most patients experience a short duration of mild crampy period-like pains. This is most likely to occur after the local anaesthetic wears off, ie. within the first half hour after the test. It is safe to take paracetamol or panadol.

It is not unusual for some patients to experience slight vaginal blood spotting after the test.

If the pains worsens or spotting progresses to fresh red bleeding, then contact your doctor.

What are the risks of the test?

There is a 1% risk of miscarriage with the test. This is usually related to infection introduced at the time of the procedure. Antiseptic precautions are taken to minimise this risk.

Warning signs of miscarriage include strong regular period like pains with fresh red bleeding. The time when miscarriage is most likely to occur is the first 24-48 hrs after the test. Contact your doctor should this occur.

What is amniocentesis?

Amniocentesis is a procedure in which a fine needle is passed through the maternal abdomen and uterine wall into the amniotic fluid around the fetus in order to obtain a sample of the amniotic fluid. Cells within the amniotic fluid have the same genetic material as the fetus and can therefore be tested for genetic abnormalities such as Down syndrome.

Who is offered amniocentesis?

Amniocentesis is offered to patients who are high risk for chromosome abnormalities.

This may include

• Abnormal first trimester screen results
• Increased nuchal translucency or other abnormal ultrasound findings
• Family history of a chromosomal abnormality or other genetic disorder
• Parents are known carriers for a genetic disorder
• Advanced maternal age (maternal age above 37).

How is it performed?

An ultrasound examination is first performed to a) confirm the dates, b) to assess the position of the placenta, and c) assess the baby for ultrasound signs of chromosomal abnormality such as Down Syndrome. The test is performed at the ultrasound clinic by an Obstetrician Gynaecologist Sonologist (specialist ultrasound doctor).

The skin of the lower abdominal wall is cleansed with an antiseptic alcohol based solution. The amniocentesis needle is then guided into the amniotic fluid by tracking it’s course on the ultrasound screen. It takes about 30 seconds to draw up the 20mL of straw coloured fluid required for analysis. The volume of fluid aspirated is about 1/6th of that present around the fetus and this is naturally replaced over the next 24 hours.

When is it performed?

An amniocentesis is usually performed between 15 and 18 weeks gestation. It can, however, be performed at any time throughout the remainder of the pregnancy.

What preparation is required prior to the procedure?

You will need to bring a:

• Referral from your doctor
• Reports for the pregnancy (if performed elsewhere)
• Your blood group card

A moderate amount of fluid in the bladder is preferable. This can help make the uterus more accessible for the needle test.

How is the amniotic fluid analysed?

The specimen is sent to a laboratory to be processed. The fetal cells within the amniotic fluid are harvested, cultured and treated to reveal their chromosomes. Every cell should contain 23 pairs of chromosomes. The laboratory scientist examines the cells for an extra chromosome number 21 (indicating Down syndrome) and for any abnormality in the other 22 pairs of chromosomes.

In addition, each chromosome pair is stained with a special dye and examined under ultraviolet light. The individual bands of each chromosome are examined in detail for subtle genetic abnormalities such as 1) insertion of genetic material into a chromosome , 2) deletion of genetic material from a chromosome and 3) exchanging of genetic material between chromosomes (translocation). This test excludes not only Down syndrome, but a wide variety of subtle and major chromosome abnormalities

Chromosomes indicating Down syndrome (T21)

What is to be expected after the test?

It is advisable for someone to take you home after the test and that you rest for the remainder of the day. This does not mean you should confine yourself to bed but rather you should just rest at home and avoid any strenuous activity including lifting any heavy weights.

Most patients experience a short duration of mild crampy period-like pains. This is most likely to occur after the local anaesthetic wears off, ie. within the first half hour after the test. It is safe to take paracetamol or panadol.

It is not unusual for some patients to experience slight vaginal blood spotting after the test.

If the pains worsens or spotting progresses to fresh red bleeding, then contact your doctor.

What are the risks of the test?

There is a 0.5% risk of miscarriage with the test. This is usually related to infection introduced at the time of the procedure. Antiseptic precautions are taken to minimise this risk.

Warning signs of miscarriage include strong regular period like pains with fresh red bleeding. The time when miscarriage is most likely to occur is the first 24-48 hours after the test. Contact your doctor should this occur.

How long before I know the results?

Depending on the rate of cell growth in the incubator results are available from as early as 10 up to 21 days. You will be contacted by phone with the result and a written report will also be mailed directly from the laboratory to your doctor.

Are the results accurate?

A chromosome result is one of the most reliable medical tests which has an accuracy in the order of 99.9%.

Reproductive carrier screening is a test that assesses your chance of passing on a single gene condition to your child(ren). These conditions occur when each reproductive parent is a carrier of a genetic change which is passed on to their child, or a woman carries a genetic change on the X chromosome which is passed on to a male child (XY). Some examples of single gene conditions include cystic fibrosis, fragile X syndrome and spinal muscular atrophy.

Who needs reproductive carrier screening?

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends that all individuals planning a pregnancy consider reproductive carrier screening – even if they have no family history of genetic conditions. The majority of children with single gene conditions are born into families with no other affected family members, and about 1 in 20 reproductive couples who have genetic carrier screening will find out they have an increased chance of having a child with a single gene condition.

What does the screening involve?

Non-pregnant patients
If you aren’t pregnant yet, reproductive carrier screening can be done from home, via our partner Monash IVF. You can order the genetic carrier screening test online at https://monashivf.com/services/genetic-testing/carrier-screening/ and wait for your test box to be delivered in the mail. Then, just follow the instructions to submit a cheek swab, fill out the forms, and mail everything back in the reply-paid envelope provided. You can expect your results and supporting information via email or phone call from the genetic counselling team within 4-6 weeks.

Pregnant patients
If you are already pregnant, you can still use our at-home process for ordering the genetic carrier screening test: https://monashivf.com/services/genetic-testing/carrier-screening/. Once we receive your order we will email you recommending you have a blood test so that we can fast track your results. You can have blood collected at any of our Monash Ultrasound for Women clinics (by appointment) or at any of our pathology partner collection centres.

What if the results say we are at-risk?

If you are one of the 1 in 20 reproductive couples with an increased chance of having a child with a single gene condition, our experienced genetic counselling team will talk to you about your reproductive options and help you decide what may be best for your individual situation. These options may include testing in pregnancy, testing after the birth of a child, considering IVF with a gamete donor or considering IVF with preimplantation genetic testing of embryos. Both the Monash Ultrasound for Women team and our partner, Monash IVF are here to support you, whichever option you choose.

How much does reproductive carrier screening cost?

There are two options available for carrier screening. The three gene panel screens for Cystic Fibrosis, Fragile X Syndrome and Spinal Muscular Atrophy. As of 1 November 2023, there is a Medicare rebate for this screening, so it is offered at no out-of-pocket cost to the patient (bulk billed). The second option (which Monash Ultrasound for Women strongly recommend because it is more effective) is an expanded panel which screens for 400+ conditions. This expanded screening costs $695 for an individual or $990 for a couple. This includes saliva testing kits, support from our genetic counsellors and a pre-paid return envelope.

How do I get started?

To find out more information or order your genetic carrier screening test, please visit our partner Monash IVF. Visit https://monashivf.com/services/genetic-testing/carrier-screening/

Nuchal translucency is the name for the fluid behind the neck of your baby.

Normal fetuses accumulate fluid under the skin behind the head and neck between 9 and 14 weeks of pregnancy. Excess fluid has been associated with chromosome abnormalities such as Down syndrome.

A simple ultrasound performed between 11 and 13 weeks can measure this fluid (Nuchal Translucency). The gestational age of the fetus can be established by measuring from head to bottom – crown rump length (CRL) . The NT tends to be larger in a fetus affected by a chromosome abnormality and it can be compared with what is expected for a fetus of the same size (NT Normal Range).

Early Pregnancy Test for Fetal Wellbeing

NT-plus is a simple, straightforward and non-invasive test undertaken at 12-13 weeks in pregnancy. It combines maternal age with high-resolution ultrasound assessment of fetal nuchal translucency (NT) and the levels of two proteins (free-BhCG and PAPP-A) in a pregnant woman’s blood.

Chromosome abnormality

All our genetic information is packed into strands of DNA called chromosomes. Normally there are 46 chromosomes in every cell. Sometimes the number or arrangement of chromosomes is abnormal – the commonest problem being Down syndrome. Any woman who falls pregnant can have a child with a chromosome problem, but the risk increases with age.

PAPP-A and BhCG

PAPP-A (Pregnancy associated plasma protein-A) and BhCG (Beta human chorionic gonadotrophin) levels can be assessed from a simple blood test taken from the mother either before or on the same day as the Nuchal Translucency ultrasound is performed. The level in the mother’s blood can be compared to the level expected in a pregnancy at the same gestational age (CRL). The NT tends to be larger in a fetus affected by a chromosome abnormality and it can be compared with what is expected for a fetus of the same size (BhCG and PAPP-A levels)

Blood tests are to be done a week prior to the ultrasound at a pathology collection centre of the patients choice.

The addition of this blood test increases the detection rate from 80% up to 90%.

An additional 10% detection means that half of the Down syndrome affected pregnancies not being detected by mother’s age and Nuchal Translucency alone, are now able to be found with the additional information from the blood test. Women whose result falls into the increased risk zone will be offered further prenatal testing (by CVS or amniocentesis).

The PAPP-A level tends to be lower and the BhCG level tends to be higher in pregnancies affected by Down syndrome (levels seen in low and high risk patients and those with a Down syndrome affected pregnancy). When this information is combined with the mother’s age and the Nuchal Translucency measurement, an increased risk group can be established, which has been shown to contain 90% of the Down syndrome affected pregnancies. We call this “NT-Plus”.

Other benefits of an 11 – 13 week scan:

• Accurate dating of the pregnancy
• Diagnosis of multiple pregnancy
• Detection of early pregnancy failure
• Assessment of early fetal structures (such as the brain, limbs and abdominal wall) and detection of some of the more severe structural abnormalities

What is a screening test?

Different types of tests are available during your pregnancy. A screening test shows if a pregnancy is at an increased risk for Down syndrome and other chromosome abnormalities. A screening test does not give a definite answer, but it does tell us which babies have an increased risk of having Down syndrome. The results may then help you in your decision about further diagnostic testing during pregnancy. Screening tests are simple and non invasive but do have out-of-pocket expenses attached for the ultrasound and blood test.

What is the first trimester combined screening test?

The first trimester combined screening test is a two part test, which involves a blood test and an ultrasound in your first trimester of pregnancy. During the blood test, a hormone (Beta human chorionic gonadotrophin) and a protein (pregnancy associated plasma protein A) are measured. Monash Ultrasound For Women offer the first trimester ultrasound between the 12th and 13th week of pregnancy. During this scan we measure the gestational age of the fetus by measuring from head to bottom to get the crown-rump length (CRL) and the nuchal translucency, see below.

By combining the age of the mother, the results of the ultrasound and the results of two proteins in the mother’s blood we can determine your risk of having a baby with Down syndrome and other chromosomal abnormalities. The accuracy of detecting Down syndrome is approximately 85-90% by utilising this screening test.

What results will I receive from this test?

If the likelihood of having an abnormality is higher than a certain cut-off value, the screening test results will be classified as an increased risk.

If the risk of an abnormality is lower than that cut-off value, the screening test results will be classified as low risk (95% of women in Victoria receive a low risk result).

Once the screening results become available (usually within 48 hours), you will be informed by one of our genetic counsellors if the result is increased. You will also be informed of the numerical chances that an abnormality is present.

What does my result mean?

It is important to understand that a low risk screening result does not rule out an abnormality. Similarly, an increased risk result does not indicate that an abnormality is present. Instead, an increased risk result may prompt you to pursue further tests, which include chorionic villous sampling (CVS) or amniocentesis.

Why do we screen for Down syndrome?

Down syndrome is the most common chromosomal cause of intellectual disability. It affects 1 in every 700-900 babies in Victoria. It can occur in any pregnancy regardless of the woman’s age. However, the chance of having a baby with Down syndrome increases with the mother’s age.

What is Down syndrome?

Cells of the body usually contain 23 pairs of chromosomes, making a total of 46. In people with Down syndrome, all or some of the cells in their body contain 47 chromosomes, where there is an extra copy of chromosome 21.

It is this extra genetic material that results in the intellectual and physical characteristics associated with Down syndrome. For more information about Down syndrome, please visit: www.dsav.asn.au

What if I missed the first trimester combined screening test?

If your gestation is greater than 13 weeks 6 days of pregnancy, other screening tests are available in your second trimester of pregnancy. You may wish to discuss these tests further with your referring doctor or genetic counsellor.

Where can I find out more information about these tests?

Please feel free to contact one of our clinics.

A pelvic ultrasound assesses the female reproductive system, including the vagina, cervix, uterus, fallopian tubes, ovaries and other pelvic structures. It can provide helpful information for those experiencing:

• Heavy, irregular or infrequent periods in premenopausal women
• Pelvic pain
• Post menopausal bleeding
• Infertility

and, for those who require assessment of:

• The ovaries
• Early pregnancy
• The cervix in later pregnancy

How is the examination performed?

Transvaginal ultrasound is performed using a special transducer which is slightly thicker than a tampon. It is covered with a disposable latex sheath and lubricating gel, then gently placed into the vagina. The probe sits in the vagina throughout the examination which usually takes between 10-15 minutes. Most patients find the examination much more tolerable when compared to a cervical PAP smear.

During the scan the sonographer may need to gently press on the abdomen to move bowel out of the way and bring the ovaries and other pelvic structures into view. This also enables any point of tenderness in the pelvis to be identified.

Transvaginal or transabdominal ultrasound: Is there a choice?

It is a Monash Ultrasound For Women protocol to offer transvaginal assessment for all gynaecological and early pregnancy scans. This is because the transducer is positioned close to the pelvic structures, producing superior image quality, hence, the most detailed and accurate diagnosis.

Though a Monash Ultrasound for Women (MUFW) protocol to offer an internal scan, patients may decline and instead be scanned transabdominally. It is always the patient’s decision whether or not to proceed with the transvaginal imaging.

In certain circumstances a transvaginal ultrasound examination is not possible or not advisable eg. if a patient has not had sexual intercourse before; if there is vaginal scarring and tenderness. A full bladder transabdominal ultrasound will then be performed.

What are the preparations I should take before the ultrasound examination?

The transvaginal examination is best performed with an empty bladder. Upon arrival at the clinic, those booked for gynaecological or early pregnancy scans will be asked to empty their bladder. It is important that a tampon be removed prior to the examination. If you are bleeding at the time of examination the scan can still be performed. Bleeding does not affect the ability to diagnose. A disposable plastic backed tissue sheet (‘bluey’) is placed beneath you. Patients are draped during the examination and are given privacy when dressing.

If an abdominal ultrasound is preferred, a moderately full bladder is necessary. To this effect, patients should drink 3 glasses of water one hour before the appointment time and not empty the bladder until after the scan.

Why scan at 7 weeks?

An ultrasound is performed at this stage of pregnancy to confirm due date, the number of embryos and to visualise the embryo’s heart beating. Prior to 7 weeks it may be too early to acquire this information.

How is the scan performed?

To obtain to best images possible, this scan is routinely performed transvaginally. This examination is safe to perform during early pregnancy.

What will I see on the ultrasound?

At 7 weeks gestation a pregnancy sac should be seen within the uterus. Within this sac an embryo, heart motion and yolk sac should be visible. Approaching 8 weeks, early brain formation is identified with a black space in the head called the rhombencephalon.

Embryo at 8 weeks gestation

Uncertain result/Follow up ultrasound

Sometimes it may be too early to gather all the information required to confirm the stage of your pregnancy. In this situation you may be required to return for a repeat ultrasound in 7-14 days. Your doctor will inform you of the most appropriate time frame to return for this scan if required.

Routine 7 week IVF pregnancy ultrasound

Regardless of the scans you may have had previously, the 12-13 week scan is important as it provides information about your pregnancy that has not been provided before.

If you have completed an IVF cycle and have received a positive pregnancy result at day 16, a trans-vaginal ultrasound will be performed approximately 5 weeks following embryo transfer. This ultrasound will confirm the location of pregnancy and the number, size and heart motion of the embryo(s).

3D image at 9 weeks

The 12-13 week scan provides important information about a pregnancy:

1. The anatomy of the fetus can be assessed in great detail. Where previously patients had to wait until 20 weeks to find out if there was a problem such as spina bifida or a major heart defect, technology has advanced to enable such abnormalities to be identified with a transvaginal ultrasound (preferably performed between 12 weeks 5 days and 13 weeks 2 days).
2. The nuchal translucency (NT) of the fetus is identified and measured during this narrow window of time. The NT is a collection of fluid between the skin and soft tissues of the neck. It is often increased (>3mm) with Down syndrome and other chromosomal or congenital abnormalities. Using the NT measurement, a risk for Down syndrome can be generated. The NT is also used in the combined screening test for Down syndrome.
3. Uterine artery blood flow is measured and combined with other maternal factors for pre-eclampsia risk assessment. Pre-eclampsia is a disease affecting the health of both mother and baby, and a primary cause of premature delivery. Preventative measures can be taken for those who screen as ‘high risk’.
4. The insertion of the cord into the placenta. The proportion of amniotic fluid to fetal size is greater at this early stage, allowing for good visualization of the cord and therefore, detection of any variation from normal with subsequent appropriate management of the pregnancy.
5. Assessment of ovaries. As a pregnancy progresses and the womb fills the pelvis, the ovaries are repositioned, often impossible to locate on ultrasound. The 12-13 week ultrasound is an opportune time to perform an assessment of the ovaries.

How is the scan performed?

Monash Ultrasound For Women protocol is to perform a transvaginal ultrasound at the 12-13 week scan. In the majority of cases, this provides superior image quality and therefore finely detailed assessment of the fetus.

What is the risk of the scan?

Both transvaginal and transabdominal ultrasound examinations are safe throughout pregnancy.

In the state of Victoria a routine ultrasound examination is offered to most patients at 20 weeks. The purpose of this examination is to assess the:

• Fetal anatomy. This involves a detailed examination of the fetal brain, face, spine, heart, abdomen, renal tract, arms, legs, hands, feet and gender.
• Position of the placenta.
• Amniotic fluid volume.
• Pelvic anatomy and the cervix.

This examination is expected to detect the majority of major fetal malformations. It is important to appreciate, however, that such an examination does not detect all abnormalities. Some congenital heart abnormalities are progressive and unable to be detected at the 20 week ultrasound. Cerebral palsy, biochemical abnormalities and some chromosomal abnormalities cannot be detected.

The views of the fetus may be limited by the:

• Fetal position at the time of examination. Every attempt is made to move the baby but occasionally the patient will need to attend on another occasion to complete the study.
• Tissue interposed between the ultrasound probe and the baby (fatty tissue or fibroids) which absorbs the ultrasound waves. If diagnostic images are not obtained, the patient may need to be rebooked at a later date to further assess the fetus.

Please inform the sonographer at the beginning of the ultrasound if you:

• Do not wish to know the gender of the fetus.

There are many reasons why you should consider a 3^rd Trimester Scan, including peace of mind that all is well with your baby and the pregnancy. Specific factors assessed in the 3^rd Trimester scan include checking the:

• umbilical cord
• position of the placenta
• baby’s wellbeing and circulation
• caesarean scar from a previous pregnancy
• findings from previous ultrasounds to ensure that all is well.

An estimated fetal weight can be obtained from the ultrasound measurements, but variation can be +/- 400g

If the fetus is optimally positioned, with a pocket of amniotic fluid in front of it’s face, true-to-life 3D/4D images can be obtained.

This study is often limited due to the fetus being much larger, with a relative decrease in surrounding amniotic fluid. This makes imaging more challenging for the clinician.

Menstrual bleeding usually occurs every 28 days although each cycle is different and some may be longer or shorter. At times the cycle may be irregular or bleeding may become heavy. This may be due to a temporary hormonal imbalance but it may also signal a problem in the uterus or ovaries such as:

• An Endometrial Polyp which is a small growth in the lining of the uterus. Polyps can cause heavier periods or unusual bleeding. Most polyps are not cancerous but may become so if not treated. They can be seen on transvaginal ultrasound but sonohysterography allows easier detection.
• Fibroids

Pain may be caused by any organ in the abdomen, and as such is often difficult to determine an exact cause without ultrasound. Common conditions detected through ultrasound include:

• Discomfort with the onset of a period is normal, but severe pain may be caused by conditions such as endometriosis and cysts.
• Each month the ovary produces a cyst as part of the ovulation cycle. Most disappear by the time of the next period, but sometimes they can become large and tender resulting in abdominal pain.
• The bowel can cause pain which presents itself as a dull crampy feeling. It can be related to diet and stress but ultrasound can provide peace of mind of no other underlying problem.

Symptoms from ovarian cancer tend to occur quite late in the disease when it is increasingly difficult to treat. Ultrasound can play a significant role in the detection or exclusion of ovarian cancer through colour doppler ultrasound. The examination will help identify if the ovaries are enlarged or if new blood vessels have appeared to supply a growing tumour. Regular screening is recommended for those at increased risk:

• Over 50 years of age
• There is a history of ovarian cancer in the family

Sonohysterography is a new technique developed to better image the uterine cavity. It uses an infusion of sterile saline through a soft plastic catheter placed in the cervix in conjunction with transvaginal ultrasound. The saline infusion distends the uterine cavity and provides an excellent contrast to the lining, giving improved visualisation of uterine and endometrial pathology.

This technique may also be used to assess the fallopian tubes by demonstrating fluid spill into the pelvis. Colour Doppler imaging demonstrates the movement of ultrasound contrast medium within the tube.

Why is it performed?
The main indications for this procedure include:

• Abnormal uterine bleeding both pre and post menopausal
• Investigation of infertility and recurrent miscarriage
• Endometrial assessment for patients on Tamoxifen therapy
• Suggestion of a mass in the endometrial cavity on ultrasound

Is there any discomfort?
There can be discomfort associated with this procedure especially if the patient suffers from dysmenorrhoea. Taking an analgesic such as Naprogesic (two tablets) half an hour before the procedure is recommended. Should the patient suffer from dysmenorrhoea it is advised that driving is not recommneded after the procedure and alternate arrangements should be made to travel home.

The procedure
This is a simple procedure, able to be performed in the ultrasound room. It does not require sedation and is useful before hysteroscopy and dilatation and curettage (D & C).

It allows the presence, nature, size, vascularity and site of attachment of a mass in the uterine cavity to be assessed before definitive surgery.

In a number of cases, it can eliminate the need for further investigation when no significant endometrial pathology can be demonstrated.

This is particularly important in cases of bleeding around the time of menopause where a hormonal disturbance is the most common cause and does not benefit from surgery.

Patients undergoing investigation for infertility have a high incidence of polyps in the uterine cavity which may be responsible for their inability to conceive. This is particularly important in those patients starting on IVF programmes, as these polyps may limit their success.

Patients on long term Tamoxifen therapy for breast cancer, have been shown to develop polyps and thickened uterine linings (endometrial hyperplasia) as well as occassionally developing endometrial cancer. Although this is a rare complication, it is an important side effect of Tamoxifen.

More commonly, however there changes in the muscular layer just under the uterine lining which is distinguishable from endometrial hyperplasia on sonohysterography but not on standard transvaginal ultrasound.

HyCoSy is increasingly used as a first line investigation for infertility because of its convenience and safety in examining the fallopian tubes and other pelvic organs. It provides a low-risk, outpatient procedure providing a direction for further diagnosis and treatment of infertility.

The causes of infertility
Infertility affects up to 10% of couples in the Western World and 20-40% of these these cases may be due to previous abdominal surgery or infection of the fallopian tube.

Management of tubal disease
The management of tubal (Fallopian) disease as a cause of infertility has changed dramatically in recent years. This is largely due to the rapidly improving results of assisted conception through in-vitro fertilisation (IVF) compared to the disappointing results achieved through tubal microsurgery.

The function of the Fallopian tube
The ovary produces the egg and it needs to meet the sperm if pregnancy is to eventuate. After fertilisation occurs, the embryo must progress to the uterine cavity, where it implants. If the tube is blocked, then the egg and sperm will not meet. If the embryo, after fertilisation, does not pass through the tube at the normal rate, then it can implant in the Fallopian tube. This is called an ectopic pregnancy.

HyCoSy explained
Hysterosalpingo-contrast-sonography (HyCoSy) is a transvaginal ultrasound technique in which a solution of galactose and 1% palmitic acid (Levovist) – or a mixture of air and saline – is infused into the uterine cavity and observed to flow along the Fallopian tubes to assess tubal patency. The bright echoes generated by the Levovist makes tubal visualisation easier, which is further improved by the addition of colour Doppler imaging.

Is there any discomfort?
There can be mild discomfort associated with this procedure, particularly if the Fallopian tubes are blocked. Pain relief will be discussed at the time of the procedure by our medical staff.

Follicle tracking involves tracking the development of egg-containing follicles within the ovary from an immature state (primordial follicles) to a mature state (leading or dominant follicles). This process is monitored with transvaginal ultrasound in combination with blood levels of the female hormones oestrogen and progesterone.

Tracking for timed intercourse:
Follicles may be tracked in a natural cycle. When a leading follicle is seen (average size 22mm , with a range of 17-27mm) then intercourse may be appropriately timed. Alternatively, drugs which promote release of the mature egg (luteinising hormone) may be administered.

Tracking for IVF:
For most IVF treatments, the ovaries are artificially stimulated with follicle stimulating hormone (FSH) which produces multiple mature follicles which are then harvested following administration of luteinising hormone (LH). In this setting, the follicular development is followed more closely with 2 to 4 ultrasound scans, and regular blood sampling tracks hormone levels. The timing of an egg collection is based on the ultrasound and blood results. This information is relayed to patients by their IVF nurse or clinician.

Egg collection is performed as a transvaginal ultrasound guided procedure under anaesthetic. However, in some patients where there is difficulty achieving vaginal access, egg collection may be performed transabdominally.

Monash Ultrasound For Women provide ultrasound services for IVF patients. IVF clinicians and nurses work closely with MUFW sonologists and sonographers to ensure accurate, timely results that give the best chance of IVF success.

Monash Ultrasound For Women can also provide follicle tracking for other IVF groups. Please provide a referral and any previous pelvic ultrasound reports.

What are polycystic ovaries (PCO)?
PCO are ovaries which contain an excessive number of primordial follicles. Primordial follicles are tiny fluid filled sacs which contain the eggs. An ultrasound of the ovaries during the reproductive years usually shows on average 4-12 follicles in each ovary. When more than 15 follicles are present, the ovary is called “polycystic”.

What is the cause of polycystic ovaries (PCO)?
In a normal menstrual cycle there are usually 5-10 follicles at the beginning of the cycle. Later in the cycle, usually around day 14, one follicle gets bigger (leading follicle) and shortly thereafter ovulation takes place with release of the egg. The remaining follicles regress and disappear before the next cycle. These events are usually after every 4 weeks and result in the monthly menstrual bleed. In women with PCO, not all of the follicles regress each cycle and therefore there is an increase in number with successive cycles. Despite extensive research no single cause explains this variation from normal.

Polycystic ovaries vs polycystic ovarian syndrome
Polycystic ovaries should not be confused with polycystic ovarian syndrome (PCOS). PCOS is a condition that results from a disturbance of blood hormones, and may present with weight gain, acne, irregular or infrequent periods, and excess hair growth.

What causes polycystic ovarian syndrome (PCOS)?
In women with PCOS, an increase in androgen (hormone) levels disrupts the normal cyclical sequence of events within the ovary. Instead, no leading egg develops and ovulation does not occur. There is a build up of small immature follicles over time and symptoms (listed above) may become apparent.

This is not a serious condition. In fact the vast majority of patients do not require any form of treatment.

If, however, you are having difficulty getting pregnant or having menstrual problems there is a wide range of treatment options and most have high success rates. These may be discussed fully with your family doctor or specialist.

A fibroid is a benign growth of fibrous muscle tissue which develops in the wall of the uterus. Fibroids range in size from 5mm (the size of a pea) to 150mm (the size of a football). They are very common and are present in up to 30% of women. They generally do not cause any problems and many patients go through life with their fibroids unnoticed.

Some patients do however run into problems which may include:

1. Infertility
2. Heavy or irregular periods
3. Pain

Infertility may occur as a result of blockage of the fallopian tubes. Such a blockage may prevent the sperm from meeting the egg just before conception or prevent the embryo’s passage toward the uterus. Fertility may also be reduced if the fibroids significantly disrupt the cavity of the uterus.

Irregular bleeding can result due to enlargement or distortion of the uterine cavity by fibroids. A fibroid extending into the cavity can also cause heavy and irregular bleeding.

If fibroids enlarge to such a size that they outgrow their blood supply degeneration of the muscle may occur and pain may result. Degeneration may also occur in pregnancy. Both of these complications are rare.

Problematic fibroids may be treated with a variety of hormones to decrease their size. It may however, take several months before a reduction in size is noted. Other fibroids may be dealt with by surgery. If the fibroid is small and positioned within the cavity it may be possible to introduce a narrow telescope into the uterine cavity and remove the fibroid. Larger fibroids are usually approached either through keyhole or open surgery.

Endometriosis is a medical condition where the lining of the uterus (endometrium) grows outside the uterus in areas including the fallopian tubes, ovaries or pelvis. The endometrium is the layer of tissue that is shed each month during menstrual bleeding, or where a pregnancy settles and grows. When the irregular lining (that which has grown outside the uterus) breaks down it has nowhere to go and subsequently causes cysts, heavy bleeding, severe pain and infertility.

There are 2 types of endometriosis: superficial lesions and deep infiltrating endometriosis. The majority of cases involve only superficial lesions and if these do not cause any symptoms, do not require any treatment (although it’s wise to monitor the condition during a pap smear).

Deep infiltrating endometriosis, however, can develop lesions that infiltrate the bowel, bladder, vagina, fallopian tubes and ovaries causing more serious conditions.

Treatments for Endometriosis
Treatment may include hormonal preparations or surgical excision of the endometriotic nodules. Transvaginal ultrasound plays an important role in assessing the condition prior to any surgical treatment.

All patients undergoing this specific ultrasound examination are submitted to bowel preparation with a mild laxative (Dulcolax fluid solution or tablet) taken orally on the eve of the examination, and receive a simple rectal enema consisting of 133 ml of Fleet enema approximately 1 hour prior to the examination. This preparation is required to eliminate faecal residues and any gases present in the rectosigmoid immediately prior the scan. The medication is over the counter medication at a cost of less than $10.

Each ultrasound examination is interpreted and documented in real time by one of the Monash Ultrasound for Women subspecialists in gynaecological imaging. Routine analysis of the uterus and ovaries is included, as well as detailed assessment of the peritoneal surface covering the vesicouterine pouch, the pouch of Douglas, the bowel (rectum, sigmoid colon up to 30cm from the anal verge), the uterosacral ligaments, posterior vaginal fornix, and the rectovaginal septum. The process is facilitated by the prior bowel preparation, which allows all the loops of the bowel to be examined in detail, a procedure that would be impossible if air or faecal residues were degrading the ultrasound beam.

If there are endometriotic nodules in the vagina or adjacent structures, ultrasound gel may be inserted into the vagina and this will define whether the nodules are infiltrating the parietal layers of the vagina or whether they are simply adherent.

Bladder involvement is evaluated by identifying hypoechoic, irregular, nodular formations, with or without cysts, in the vesico-uterine pouch. Infiltration of the muscle layer or the bladder mucosa is investigated.

The results of the ultrasound in discussion with the patient will determine how to treat the condition.

The placenta is commonly attached in the upper part of the uterus (womb) or along the front or back wall, well clear of the birth canal (cervix) (see figure 1).

PE screening involves a specific blood test, measurement of maternal blood pressure/height/weight, a maternal history and Doppler ultrasound of the uterine arteries at 12-13 weeks of pregnancy.

At the 20 week ultrasound, 5% of pregnancies show the placenta situated low in the uterus either close to, or covering the cervix (see figure 2). As pregnancy progresses however, the lower part of the uterus grows such that the placenta eventually becomes clear of the cervix. In fact, in 95% of cases the placenta will be clear of the birth canal by 37 weeks of pregnancy.

Therefore, if you are informed at your 20 week scan that the placenta is low, do not be alarmed, you can continue normal activities as usual. A repeat ultrasound should however be arranged at around 32 weeks of pregnancy to determine if the placenta has moved away from the cervix with the growing womb.

Of the pregnancies with a low placenta at 20 weeks, a small number (5%) remain low after 28 weeks. This is called placenta praevia (refer figure 3). A placenta which is praevia may cause vaginal bleeding in later pregnancy. Also, in some patients with placenta praevia the baby may need to be delivered by caesarean section. Your specialist will discuss with you the best way to manage this situation and advise you of any precautions.

Most couples expect to give birth to a healthy baby, however approximately 1 in 50 will have a baby born with a birth defect. The cause for such a pregnancy outcome may be inherited or chromosomal, it may be due to the environmental factors such as drugs or a medical condition affecting the mother.

Genetic counselling is a process for an individual or family where the diagnosis of a particular condition is made and current information is provided in a supportive way. This may assist couples in making an informed decision about continuing in the pregnancy, in understanding their risks in a future pregnancy and their reproductive options including Prenatal Testing.

3D ultrasound produces a still, three dimensional image of your baby, like a photograph within the womb. With 4D ultrasound, the 3D image of the baby is seen to move as the baby positions itself within the womb. 4D gives a short video clip of your baby’s activity. Both 3D and 4D imaging are also used for diagnostic purposes. Diagnosis takes priority in all Monash Ultrasound For Women fetal assessments, however, our specialists endeavour to provide patients with true-to-life pictures of their baby.

The ureter is a narrow tube which drains urine from the kidneys to the bladder. Where the ureter meets the kidney is called the renal pelvis. This normally measures less than 4mm at the 20 week scan.

In 1-2% of pregnancies the renal pelvis of the baby is dilated to around 4-10mm. In most cases this is a normal variation which resolves in later pregnancy or shortly after delivery.

In some babies however, the dilatation may be due to reflux of urine, or rarely, obstruction of the ureter. Both of these conditions are treatable.

Where there is reflux, the urine flushes back up the ureters towards the kidneys each time the baby passes urine. In the majority of cases this resolves with time as the baby gets older and the valve mechanism between the bladder and ureters mature. With some babies however a short course of antibiotics is needed and only rarely is surgery performed to correct this problem.

With obstruction, the ureter may be partially blocked anywhere along its length from the kidney to the bladder. In the vast majority of babies the obstruction is mild and surgery is not required.

Therefore, it is important to follow up all babies with renal pelvis dilatation, in order to identify those who will require treatment for related problems in the future. In the majority of babies with renal pelvis dilatation, such treatment will not be required, and no long term kidney damage results.

normal renal pelves

dilated renal pelves

Pre-eclampsia (PE) is a serious pregnancy complication affecting mother and baby. Pre-eclampsia screening can identify those at high risk of the disease with an 80% detection rate. If high risk, a simple treatment of low dose aspirin, under the direct care of your doctor, can prevent the onset of the most severe type of the disease.

PE screening involves a specific blood test, measurement of maternal blood pressure/height/weight, a maternal history and Doppler ultrasound of the uterine arteries at 12-13 weeks of pregnancy.