Health Professionals

Gynaecological and fertility-related consultations can be very challenging and sensitive. Fear of not being able to have a child is a common fear amongst young women. General practitioners play a key role in the initial assessment and support of women presenting with these concerns.

Below are drop-down lists of investigations for conditions relating to fertility. The lists are general guides only and do not represent the requirements of specific individuals. Please feel free to refer women with gynaecological or fertility related conditions for individual assessment.

 

Investigations for all women:

Full blood count (haemoglobin, MCV, platelet count)

Blood group & antibodies

Hepatitis B screening – HBsAg, anti-HBs, anti-HBc (Hep B surface antigen indicates active acute or chronic infection, Hep B surface antibody will be positive if vaccinated or infected, Hep B core antibody indicates current or previous infection; see https://www.racgp.org.au/afp/2012/april/hepatitis-b-serology/ for details regarding the interpretation of results; if results indicate infection add in liver function tests, HBV DNA and HBe antigen and refer for specialist review)

Hepatitis C – anti-HCV (indicates exposure to HCV, indicating current or previous infection; if positive add in liver function tests and HCV RNA PRC and refer for specialist review; (for further information on Hep C, see https://www.racgp.org.au/afp/2013/july/hepatitis-c/)

Human Immunodeficiency Virus – HIV Ab and Ag (if positive seek specialist review; see http://www.sti.guidelines.org.au/sexually-transmissible-infections/hiv for further information)

Syphilis serology – EIA, TPPA or TPHA (conduct a treponema specific test for screening to detect antibodies specific to T.pallidum antigens (ie, EIA, TPPA or THA) then, if positive, follow up with a non-treponemal test (usually RPR) to assess disease activity; see http://www.sti.guidelines.org.au/sexually-transmissible-infections/syphilis for further information; refer for specialist review If positive)

Rubella antibody status – Rubella IgG (if non-immune, vaccinate and advise the patient to avoid pregnancy for the next 28 days)

Varicella zoster antibody status – Varicella IgG (if non-immune, vaccinate and advise the patient to avoid pregnancy for the next 28 days)

Cervical screening test – CST (if this will fall due within the next six months; see pages 7 & 8 of linked pdf for Australian management and referral guidelines http://www.cancerscreening.gov.au/internet/screening/publishing.nsf/Content/C2058A7D155867ACCA2581C400082790/$File/CAN174-Understanding-the-National-Cervical-Screening-Program-Management-Pathway.pdf

 

Also consider the following investigations:

Chlamydia & Gonorrhoea (endocervical swab or first pass urine; conduct for women at increased risk of infection)

Vitamin D (conduct if the woman is at increased risk of vitamin D deficiency, ie, women with reduced sunlight exposure, veiled women, women who use sunscreen on a regular basis, women with dark skin, women with a child that has rickets, women with a BMI>30)

Iron studies (conduct if the woman is anaemic, has an MCV<85 or if she is at increased risk of iron deficiency, eg, vegetarian, heavy menses)

B12 and folate (conduct if the woman is anaemic or is at increased risk of B12 or folate deficiency, eg, vegetarian).

2hr GTT or HbA1C + fasting BSL (if overweight or any other risk factors for diabetes)

Thalassaemia screening (This can be complicated. If a woman has a family history of any haemoglobinopathy including thalassaemia, it must be investigated; refer to a geneticist and, as a minimum, conduct a FBC, irons studies, B12 and folate on both the woman and her partner. If a patient does not have a family history of any haemoglobinopathy, but has an MCV<85 the most likely cause is iron deficiency; conduct iron studies and, if iron deficiency is present, treat it and repeat the FBC; if the MCV remains low, investigate for thalassaemia; conduct HbEPG, referral to a haematologist is likely to be indicated especially if both the woman and her partner have an MCV<85; see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1390791/pdf/cbr27_1p027.pdf for a great article on haemoglobinopathies in Australia and how to investigate them)

 

Screening for genetic conditions – This is complex, confusing for many couples and often expensive; RANZCOG states that “women should be made aware of the availability of screening of low risk women for carrier status of the more common genetic conditions, eg, cystic fibrosis, spinal muscular atrophy, fragile X.”; in reality there are a multitude of different tests available that can test for so many rare genetic disorders that it is inevitable that individuals frequently are carriers for at least one condition. In the section below entities ‘Available Prenatal Genetic Tests’ there is a list of available tests, what they test for and their approximate cost, which is up to date as of January 2018.

The basic fertility workup contains all routine investigations for that would be conducted on women planning pregnancy (see the section entitled ‘Investigations for Women Planning Pregnancy’ for more information on these tests), specifically:

Full blood count – FBC

Blood group & antibodies

Hepatitis B screening – HbsAg, anti-HBs, anti HBc

Hepatitis C screening – anti-HCV

Human Immunodeficiency Virus screening – HIV Ab and Ag

Syphillis serology – specific treponemal test, eg, EIA, TPPA or TPHA

Rubella antibody status – Rubella IgG

Varicella Zoster antibody status – Varicella IgG

Cervical screening test – CST (if this will fall due within the next six months)

Chlamydia & gonorrhoea screening (if at increased risk)

Vitamin D (it at increased risk of vitamin D deficiency)

Iron studies (if anaemic or at increased risk of anaemia)

B12 and folate (if at increased risk of deficiency)

2hr GTT or HbA1C + fasting BSL (if overweight or any other risk factors for diabetes)

Thalassaemia screening (if indicated, see ‘Investigations for Women Planning Pregnancy’ for more information)

Screening for genetic conditions (if a family history or requested by the couple, see ‘Investigations for Women Planning Pregnancy’ for more information)

 

In addition to the above routine tests, add on:

Anti-mullerian hormone – AMH (to check the woman’s ovarian reserve; this test is not covered by Medicare and will incur a fee, usually less than $100)

Day 3 follicle stimulating hormone (FSH), lutenizing hormone (LH), oestradiol and progesterone (if a patient is amenorrhoeic or does not have a regular menstrual cycle, these investigations may be conducted at any time)

Thyroid function tests – TSH, T3, T4

Thyroid antibody tests – anti-TPO, anti-thyroglobulin (add on if any abnormalities on thyroid function tests)

Prolactin

Pelvic Ultrasound with Antral Follicle Count plus HyCoSy (it would be preferable to have this conducted at a specialist Obstetric & Gynaecology Ultrasound service, eg, Ultrasound Care https://ultrasoundcare.com.au/Referral%20form/Ultrasound_Care_Referral_Form_2018.pdf rather than a general radiology firm)

 

Male investigations:

Full blood count – FBC

Hepatitis B screening – HbsAg, anti-HBs, anti HBc

Hepatitis C screening – anti-HCV

Human Immunodeficiency Virus screening – HIV Ab and Ag

Syphillis serology – specific treponemal test, eg, EIA, TPPA or TPHA

Semen analysis

The Rotterdam diagnosis of polycystic ovarian syndrome requires the presence of two of the following features after the diagnosis of other causes:

– clinical or biochemical evidence of hyperandrogenism *

– ovulatory dysfunction (usually identified as irregular or absent menses)

– polycystic ovaries on ultrasound (>20 follicles per ovary, or an ovarian volume of over 10mL)

 

Recommended investigations include:

Free androgen index – FAI

Testosterone (total)

Sex hormone binding globulin – SHBG

Androstenedione

Dehydroepiandrosterone sulphate (DHEAS)

17-hydroxy progesterone (to exclude non-classical congenital adrenal hyperplasia)

Thyroid function tests – TSH, T3, T4

Prolactin

Fasting lipid profile – cholesterol, low density lipoproteins (LDLs), high density lipoproteins (HDLs), triglyceride level

Glycaemic status assessment – either an oral glucose tolerance test (OGTT), HbA1c or fasting plasma glucose (a 75g OGTT should be offered to all women with PCOS when planning pregnancy or seeking fertility treatment)

b-hCG (if sexually active and no recent menses)

 

Pelvic ultrasound with antral follicle count and endometrial thickness measurement (it would be preferable to have this conducted at a specialist Obstetric & Gynaecology Ultrasound service, eg, Ultrasound Care https://ultrasoundcare.com.au/Referral%20form/Ultrasound_Care_Referral_Form_2018.pdf rather than a general radiology firm)

* Note that the diagnosis of biochemical hyperandrogegism is not possible whilst a woman is on hormonal contraception as this has an effect on sex hormone binding globulin and androgen levels.

 

If fertility is a consideration, add in the investigations listed in the ‘Basic Fertility Workup’ section.

 

If severe clinical features, consider Cushings disease or androgen producing tumours (ovarian or adrenal origin).

 

There are a number of conditions that can cause recurrent miscarriage. The following investigations are aimed at identifying these conditions.

 

Female recurrent miscarriage investigations should include (in addition to the tests that form the basic fertility workup):

Anti-cardiolipin (needs to be repeated 12 weeks after the initial test before a diagnosis of anti-phospholipid syndrome can be made)

Lupus anticoagulant (repeat 12 weeks after the initial test)

beta-2 glycoprotein (repeat 12 weeks after the initial test)

Thyroid function tests – TSH, T3, T4

Thyroid antibody tests – anti-TPO, anti-thyroglobulin

Karyotype (this may attract a charge above the medicare rebate for the patient)

Prolactin

Pelvic Ultrasound with Antral Follicle Count plus HyCoSy (it would be preferable to have this conducted at a specialist Obstetric & Gynaecology Ultrasound service, eg, Ultrasound Care https://ultrasoundcare.com.au/Referral%20form/Ultrasound_Care_Referral_Form_2018.pdf rather than a general radiology firm)

 

Other routine female investigations should include:

Anti-mullerian hormone – AMH (to check the woman’s ovarian reserve; this test is not covered by Medicare and will incur a fee, usually less than $100)

Day 3 follicle stimulating hormone (FSH), lutenizing hormone (LH), oestradiol and progesterone (if a patient is amenorrhoeic or does not have a regular menstrual cycle, these investigations may be conducted at any time)

Full blood count – FBC

Blood group & antibodies

Hepatitis B screening – HbsAg, anti-HBs, anti HBc

Hepatitis C screening – anti-HCV

Human Immunodeficiency Virus screening – HIV Ab and Ag

Syphillis serology – specific treponemal test, eg, EIA, TPPA or TPHA

Rubella antibody status – Rubella IgG

Varicella Zoster antibody status – Varicella IgG

Cervical screening test – CST (if this will fall due within the next six months)

Chlamydia & gonorrhoea screening (if at increased risk)

Vitamin D (it at increased risk of vitamin D deficiency)

Iron studies (if anaemic or at increased risk of anaemia)

B12 and folate (if at increased risk of deficiency)

2hr GTT or HbA1C or fasting BSL (if overweight or any other risk factors for diabetes)

Thalassaemia screening (if indicated, see ‘Investigations for Women Planning Pregnancy’ for more information)

Screening for genetic conditions (if a family history or requested by the couple, see ‘Investigations for Women Planning Pregnancy’ for more information)

 

Male recurrent miscarriage investigations should include (in addition to the tests that form the basic fertility workup):

Karyotype

Semen analysis with DNA fragmentation analysis (not all pathology labs may offer this test; therefore there is no need to get this done prior to referral)

 

Other routine male investigations should include:

Full blood count – FBC

Hepatitis B screening – HbsAg, anti-HBs, anti HBc

Hepatitis C screening – anti-HCV

Human Immunodeficiency Virus screening – HIV Ab and Ag

Syphillis serology – specific treponemal test, eg, EIA, TPPA or TPHA

 

Azoospermia (complete absence of sperm) or severe oligospermia (greatly reduced sperm count) can be caused by pre-testicular (usually a lack of stimulating hormones being produced by the brain), testicular (a problem with sperm production by the testes) or post-testicular (sperm are produced by can’t make their way into the ejaculate). The following tests are designed to elucidate the cause of the lack of sperm in the ejaculate.

 

Luteininzing hormone, follicle stimulating hormone – LH, FSH (very low levels in conjunction with a low estradiol and low testosterone suggest a pre-testicular cause)

Testosterone (total) (this must be collected before 10am in the morning as testosterone levels fluctuate during the day, testosterone levels taken later in the day are difficult to interpret)

Oestradiol (raised estradiol levels will suppress LH and FSH production in the brain and can impair sperm count)

Prolactin (elevated prolactin will decrease LH and FSH production by the brain)

Karyotype (Klinefelter syndrome, 47,XXY or variants such as 46,XY/47,XXY or 48,XXXY will cause either azoospermia or very severe oligospermia)

Y chromosome micro deletions (in the azoospermia factor (AzF) regions A, B or C)

Cystic fibrosis testing (cystic fibrosis is frequently characterised by absence of the vas deferens causing obstructive (post-testicular) azoospermia

Testicular ultrasound (looking for the size of the testes, varicoeles and for the presence of the vas deferens)

Post-ejaculatory void analysis (examination of the urine produced after ejaculation to determine whether retrograde ejaculation is the cause of the impaired sperm count)

Additional information is available at https://www.andrologyaustralia.org/wp-content/uploads/clinical-summary-guide05_May2010.pdf 

 

Sonic Genetics three gene panel – looks for mutations responsible for cystic fibrosis, spinal muscular atrophy and Fragile X; cost is approximately $400, Medicare rebate is not generally available except in some cases of CF or Fragile X where there are symptoms or a family history; results take around 2 weeks. Further information regarding this test can be found here https://www.sonicgenetics.com.au/wp-content/uploads/2018/10/PreconceptionCarrierScreening_MS_square-SG_Sept2018_final_web.pdf, a request form for this test can be found here https://www.sonicgenetics.com.au/wp-content/uploads/2018/10/ReproductivePreconceptionScreening_requestform-SG_2018_final_autoeditable.pdf. An individual test for cystic fibrosis costs $310, an individual test for spinal muscular atrophy costs $220, and an individual test for Fragile X only costs $101.30.

 

Sonic Genetics Beacon expanded carrier screen – looks for mutations in 299 autosomal recessive genes and 28 X-linked genes (including cystic fibrosis, spinal muscular atrophy, Fragile X, alpha thalassaemia and sickle cell anaemia) that can cause serious disorders in an affect individual; cost for one person to be tested is $995, cost for a couple to be tested is $1,750 (there is no Medicare rebate); results take 3-4 weeks. Further information regarding this test can be found here https://www.sonicgenetics.com.au/wp-content/uploads/2018/08/FULGENT_Expanded_Drbrochure_square_SG_2018_final_web.pdf, a request form for this test can be found here https://www.sonicgenetics.com.au/wp-content/uploads/2018/11/ExpandedScreening_requestform-SG_Sept2018_final_editable-1.pdf.

 

Counsyl Foresight carrier screen – looks for mutations in 175+ autosomal recessive genes and 28 X-linked genes (including cystic fibrosis, spinal muscular atrophy, Fragile X, alpha thalassaemia and sickle cell anaemia) that can cause serious disorders in an affected individual. Further information regarding this test can be found here http://genomicdiagnostics.com.au/wp-content/uploads/2018/08/P3_V1_FPSR_Provider_Brochure_Laverty_R5.pdf,  a request form for this test can be found here http://genomicdiagnostics.com.au/wp-content/uploads/2018/08/GD32-LAV-RF0016-AV1.4-Test-Request-Form_LR.pdf.