Family Planning & Reproductive Medicine Reference Guide

MBS Item 4001 covers the provision of non-directive pregnancy support counselling by an eligible GP. This service is designed to support patients facing an unintended pregnancy or experiencing distress following a miscarriage or stillbirth.

Reproductive carrier screening identifies couples at high risk of passing on serious genetic conditions. Under current Medicare guidelines, screening for the three primary conditions is heavily subsidised or bulk-billed if specific clinical risk criteria or family history indications are met.

Screening Panel	Conditions Covered	Out-of-Pocket Cost Breakdown
Prepair 3	Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), Fragile X Syndrome (FXS).	Bulk-Billed (if criteria met) or $389 private fee if screening out-of-pocket.
Prepair 500	Expanded panel covering up to 500 inherited genetic conditions.	+$975 extra out-of-pocket cost.
Prepair 1000	Comprehensive genome screening for 1,000+ conditions.	+$1,500 extra out-of-pocket cost.

Screening Panel

Conditions Covered

Out-of-Pocket Cost Breakdown

Prepair 3

Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), Fragile X Syndrome (FXS).

Bulk-Billed (if criteria met) or $389 private fee if screening out-of-pocket.

Prepair 500

Expanded panel covering up to 500 inherited genetic conditions.

+$975 extra out-of-pocket cost.

Prepair 1000

Comprehensive genome screening for 1,000+ conditions.

+$1,500 extra out-of-pocket cost.

Clinical Update: Disease-Modifying Genetic Treatments

Early identification allows access to advanced disease-modifying therapies if an affected pregnancy proceeds to birth:

Evrysdi (Risdiplam): Oral small-molecule survival motor neuron 2 (SMN2) splicing modifier for SMA.
Spinraza (Nusinersen): Intrathecal antisense oligonucleotide therapy targeting SMN2.
Zolgensma (Onasemnogene abeparvovec): One-time intravenous gene replacement therapy delivering a functional human SMN gene.

NIPT evaluates cell-free fetal DNA (cffDNA) in maternal plasma. Choosing the correct test depends on the required resolution, method of analysis, and patient budget.

Test Name	Methodology & Scope	Failure Rate	Approx. Private Cost
Harmony	Targeted sequencing (chromosomes 13, 18, 21, sex chromosomes). Standard clinical frontline test.	1.5% – 3.0%	$500
Generation Plus	Targeted platform + specific microdeletions (e.g., 22q11.2 DiGeorge Syndrome).	1.5% – 4.0%	$799
Generation	Uses Whole Genome Sequencing (WGS) pipeline but limits reporting to trisomies 13, 18, 21.	0.5% – 1.0%	$485
Generation 46	Commercial Genome-Wide Screening. Identifies structural anomalies and rare trisomies across all 46 chromosomes.	0.5% – 1.0%	$525
Percept	Advanced WGS pipeline. Highly accurate readout capable of calling results down to exceptionally low fetal fractions.	< 0.2%	$475

Test Name

Methodology & Scope

Failure Rate

Approx. Private Cost

Harmony

Targeted sequencing (chromosomes 13, 18, 21, sex chromosomes). Standard clinical frontline test.

1.5% – 3.0%

$500

Generation Plus

Targeted platform + specific microdeletions (e.g., 22q11.2 DiGeorge Syndrome).

1.5% – 4.0%

$799

Generation

Uses Whole Genome Sequencing (WGS) pipeline but limits reporting to trisomies 13, 18, 21.

0.5% – 1.0%

$485

Generation 46

Commercial Genome-Wide Screening. Identifies structural anomalies and rare trisomies across all 46 chromosomes.

0.5% – 1.0%

$525

Percept

Advanced WGS pipeline. Highly accurate readout capable of calling results down to exceptionally low fetal fractions.

< 0.2%

$475

Critical Gateway: Gestational Dating & PBS Limits

PBS Eligibility: < 9 weeks (63 days) gestation.
Medical termination efficacy drops transiently beyond this threshold: 98% success rate up to 9 weeks. If standard single-dose MS-2 Step is used off-label between 9 and 10 weeks, the complete success rate drops to approximately 80% – 85%, introducing a significantly higher risk of retained products or heavy bleeding requiring surgical completion.

What NOT to Routinely Order for MTOP

Routine Ultrasound: Avoid if dates are highly certain, clinical history is low-risk, and patient is asymptomatic. Forcing routine ultrasound introduces administrative and access delays, pushing patients past the 9-week PBS window.
Trans-Vaginal Ultrasound: If an ultrasound is required for clinical uncertainty, a Trans-Abdominal only view is generally completely adequate to establish intrauterine location and crown-rump length (CRL).
Coagulation Profiles: Routinely ordering PT/INR/APTT is not indicated unless there is an explicit personal or family history of bleeding diatheses.

Specialist pharmacy accreditation is no longer required to dispense MS-2 Step. The following local pharmacies regularly stock and dispense this medication:

Unlike MTOP, surgical terminations require a formal pelvic ultrasound prior to admission. Refer based on gestational age limits:

Contraceptive Option	Clinical Focus & Practice Pearls
Yaz	Drospirenone (3mg) / Ethinylestradiol (20mcg) low-dose combined oral contraceptive pill. Now PBS Listed. Features a 24/4 dosing regimen designed to reduce hormone fluctuations, lower the risk of breakthrough bleeding, and improve premenstrual symptoms.
Yasmin	Drospirenone (3mg) / Ethinylestradiol (30mcg) combined oral contraceptive pill. Now PBS Listed. Standard 21/7 regimen utilising drospirenone's antimineralocorticoid properties to help minimise water retention and androgenic side effects.
Slinda	Drospirenone-only (4mg) POP. PBS Listed. Offers a wider 24-hour missed pill window compared to traditional POPs, improving compliance and contraceptive efficacy while maintaining a favourable bleeding profile.
Nextstellis	Combined oral contraceptive containing Estetrol (E4), a plant-derived native estrogen, combined with drospirenone. PBS Listed. Designed to offer selective tissue action, minimising metabolic and thromboembolic impact while ensuring cycle control.
Ryeqo	Relugolix 40mg, estradiol 1mg, norethisterone acetate 0.5mg. PBS Listed. Listing stream is highly accessible; strictly requires an authority declaration of "confirmed endometriosis" or moderate-to-severe uterine fibroid symptoms. Suppresses ovarian steroids while mitigating bone mineral density loss.
Depo-Provera	Medroxyprogesterone acetate injection. Critical Safety Alert: Long-term use is authorised but associated with a cumulative risk of meningioma. Regular review and discussion of alternative long-acting reversible contraceptives (LARCs) is advised.
NuvaRing	Etonogestrel/ethinyl estradiol vaginal ring. PBS Listed. Self-inserted monthly, provides excellent cycle stability with low systemic estrogen exposure. Must be stored in accordance with cold-chain protocols prior to dispensing.
Mirena (52mg LNG-IUS)	Extended Lifespan Guidelines: Approved for up to 8 years for contraception. If inserted at or after the age of 45 years, it can safely remain in situ for up to 10 years or until menopause is confirmed. Has a higher daily release rate of levonorgestrel, rendering it the standard for heavy menstrual bleeding (HMB) and endometrial protection.
Kyleena (19.5mg LNG-IUS)	Approved for up to 5 years for contraception. Features a smaller physical frame and a narrower inserter tube diameter, making it an ideal choice for nulliparous patients or those with a small/anteverted uterus. Lower hormonal dose targets localised contraception without systemic overload; not indicated for HMB.
Copper IUD	Non-hormonal LARC. Note: Not covered on the PBS (Private Script Only). Provides immediate, highly effective contraception with a functional lifespan of 5 to 10 years depending on the specific model selected (e.g., Load 375 vs. TT380 Slimline).

Contraceptive Option

Clinical Focus & Practice Pearls

Yaz

Drospirenone (3mg) / Ethinylestradiol (20mcg) low-dose combined oral contraceptive pill. Now PBS Listed. Features a 24/4 dosing regimen designed to reduce hormone fluctuations, lower the risk of breakthrough bleeding, and improve premenstrual symptoms.

Yasmin

Drospirenone (3mg) / Ethinylestradiol (30mcg) combined oral contraceptive pill. Now PBS Listed. Standard 21/7 regimen utilising drospirenone's antimineralocorticoid properties to help minimise water retention and androgenic side effects.

Slinda

Drospirenone-only (4mg) POP. PBS Listed. Offers a wider 24-hour missed pill window compared to traditional POPs, improving compliance and contraceptive efficacy while maintaining a favourable bleeding profile.

Nextstellis

Combined oral contraceptive containing Estetrol (E4), a plant-derived native estrogen, combined with drospirenone. PBS Listed. Designed to offer selective tissue action, minimising metabolic and thromboembolic impact while ensuring cycle control.

Ryeqo

Relugolix 40mg, estradiol 1mg, norethisterone acetate 0.5mg. PBS Listed. Listing stream is highly accessible; strictly requires an authority declaration of "confirmed endometriosis" or moderate-to-severe uterine fibroid symptoms. Suppresses ovarian steroids while mitigating bone mineral density loss.

Depo-Provera

Medroxyprogesterone acetate injection. Critical Safety Alert: Long-term use is authorised but associated with a cumulative risk of meningioma. Regular review and discussion of alternative long-acting reversible contraceptives (LARCs) is advised.

NuvaRing

Etonogestrel/ethinyl estradiol vaginal ring. PBS Listed. Self-inserted monthly, provides excellent cycle stability with low systemic estrogen exposure. Must be stored in accordance with cold-chain protocols prior to dispensing.

Mirena (52mg LNG-IUS)

Extended Lifespan Guidelines: Approved for up to 8 years for contraception. If inserted at or after the age of 45 years, it can safely remain in situ for up to 10 years or until menopause is confirmed. Has a higher daily release rate of levonorgestrel, rendering it the standard for heavy menstrual bleeding (HMB) and endometrial protection.

Kyleena (19.5mg LNG-IUS)

Approved for up to 5 years for contraception. Features a smaller physical frame and a narrower inserter tube diameter, making it an ideal choice for nulliparous patients or those with a small/anteverted uterus. Lower hormonal dose targets localised contraception without systemic overload; not indicated for HMB.

Copper IUD

Non-hormonal LARC. Note: Not covered on the PBS (Private Script Only). Provides immediate, highly effective contraception with a functional lifespan of 5 to 10 years depending on the specific model selected (e.g., Load 375 vs. TT380 Slimline).

Investigation should commence after 12 months of regular unprotected intercourse in women aged < 35, and after 6 months in women aged 35–42. Referral to the GVH Fertility Clinic (a public satellite service operating in partnership with the Royal Women’s Hospital) utilises streamlined channels.

Mandatory Female Workup

Physical & Imaging:

Pelvic Ultrasound (Trans-vaginal preferred)
Cervical Screening Test (CST) valid within 5 years
Baseline anthropometrics: Weight, Height, and BMI

Mandatory Pathology (Must Be Included):

Serology: HIV, Hepatitis B, Hepatitis C, Syphilis
Immunity Screen: Rubella IgG, Varicella IgG
Blood Group & Red Cell Antibodies
General: FBE, Ferritin, TSH
Hormonal Profiles: FSH, LH, Prolactin, Estradiol (E₂)
Day 21 Progesterone: Taken 7 days prior to expected menses (adjust forward/backward for irregular cycles to confirm ovulation).

Provide If Available:

Anti-Müllerian Hormone (AMH) • Out-of-pocket cost payable
Karyotype (if suspecting premature ovarian insufficiency) • Out-of-pocket cost payable
Chlamydia / Gonorrhoea PCR (Urine or endocervical)
SHBG & Free Testosterone (if features of PCOS present)

Mandatory Male Workup

Diagnostic Semen Analysis:

Must be ordered through an accredited reproductive laboratory.
In the Shepparton region, Dorevitch Pathology is the exclusive local provider offering this specialised processing.

Dorevitch Semen Analysis Protocol

GPs must explicitly counsel patients on the rigid collection criteria to avoid invalid samples:

Sample Viability Window: Sample must be delivered to the lab within 45 minutes of ejaculation.
Drop-Off Hours: Monday to Friday, strictly between 10:00 AM and 2:00 PM.
Reference guide: Dorevitch Instruction Portal.

Provide If Available:

Serology: HIV, Hepatitis B, Hepatitis C, Syphilis
Male Reproductive Hormones (FSH, LH, Testosterone) if oligospermia noted
Semen Antibodies (Antisperm Antibodies)
Karyotype (if severe oligospermia/azoospermia is detected) • Out-of-pocket cost payable

Clinical data from Wilcox et al. demonstrates that the physiological fertile window spans exactly 6 days: the 5 days preceding ovulation plus the day of ovulation itself. Informing patients about the realistic statistical success rates reduces stress and prevents mechanical fatigue.

Intercourse Frequency Within Fertile Window	Statistical Pregnancy Success Rate	Clinical Considerations & Patient Counselling Pearls
Every Day (Daily)	37%	Highest nominal success rate. However, couples frequently report high psychological stress, scheduling pressure, and viewing intercourse as an administrative "chore", which may impair compliance.
Every Second Day (Alternate)	33%	Highly recommended clinical target. No statistically significant drop-off from daily exposure. Significantly reduces psychological pressure and marital stress.
Every Third Day	15% – 20%	Sub-optimal exposure. Dramatically drops statistical probability per cycle as it can completely miss the peak fertile window.

Intercourse Frequency Within Fertile Window

Statistical Pregnancy Success Rate

Clinical Considerations & Patient Counselling Pearls

Every Day (Daily)

37%

Highest nominal success rate. However, couples frequently report high psychological stress, scheduling pressure, and viewing intercourse as an administrative "chore", which may impair compliance.

Every Second Day (Alternate)

33%

Highly recommended clinical target. No statistically significant drop-off from daily exposure. Significantly reduces psychological pressure and marital stress.

Every Third Day

15% – 20%

Sub-optimal exposure. Dramatically drops statistical probability per cycle as it can completely miss the peak fertile window.

The Fallacy of Commercial Menstrual Tracking Apps

A key counselling pearl for GPs to deliver: studies show that 67% of commercial tracking apps predicted the ovulation day 2 to 9 days too early. Relying solely on app algorithms often causes couples to stop targeted intercourse before their actual biological fertile window begins. Counsel patients to focus on cervical mucus changes or generic regular mid-cycle alternate-day exposure rather than software predictions.