Molecular diagnostics maximize the chances of infertility treatment by guiding tailored therapy for infertile women and men

1. Female infertility
Thrombophilia (Hypercoagulability) panel
Female FSH panel
Diagnosis of pathogenic mutations in Factor V (Leiden),
Factor II (prothrombin), and plasminogen activator inhibitor
(SERPINE1/PAI-1) will identify the most likely cause for these
indications. Treatment for pregnancy maintenance may be
appropriately tailored for the patient depending on the
number and combination of these mutations.
While almost 1 in 2 women carry variations in FSH receptor
(FSHR) and estrogen receptor (ESR1), >75% of infertile
women undergoing assisted reproduction have FSHR
variation7. Either of these variants leads to poor follicular
response resulting in poor pregnancy outcome inART cycles.
Using a higher FSH dose in these women increases follicle
number and oocyte retrieval, and improves pregnancy rate.
MTHFR testing has been recommended against for thrombophilia by ACMG
5
and BSH
615-60% of RPL
and RIF are due
to thrombophilia
41-45% women
have FSHR and/or
ESR1 variants
Recommended
by
American Society for Reproductive Medicine1
Royal College of Obstetricians and Gynecologists 2
American College of Medical Genetics 3
British Society for Hematology 4
Indications:
Indications:
Recurrent pregnancy loss (RPL),
or stillbirth
Recurrent implantation failure (RIF)
Personal or family history of
thrombophilia, thromboembolism
Unexplained preeclampsia
Intrauterine growth restriction
Controlled Ovarian Stimulation
(COS)
Prior to IVF, ICSI, or any
oocyte-retrieval procedure
Normovulatory, oligovulatory and
anovulatory women
Prior to ART for tubal factor
infertility, endometriosis or PCOS
Maximize Infertility treatment
outcome with Molecular medicine
Molecular diagnosis for
evidence-based treatment
Personalize treatment for
improved outcome
Tailor ART, avoid
unnecessary procedures
99.9%
accuracy
Targeted
therapy
Maximize
outcome
Simple
saliva/blood
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2. Swagene infertility tests
Order a test Cardio/Cerebrovascular
Female infertility Description Sample Turnaround time
Male infertility Description Sample Turnaround time
Thrombophilia
(Hypercoagulability) panel
Order online at www.swagene.com
for self-collection oral swab kits
couriered home
Prescribe a test and direct the
patient to the nearest lab affiliate
Female FSH panel
2-3 daysVariants in FactorV (Leiden, 1691G>A), Factor II
prothrombin (20210G>A), and SERPINE1 (PAI-1, 5G/4G)
Variants in FSHR (2039A>G) and ESR1 (453-397C>T)
1 ml Blood in
EDTA
YCMD panel
Male FSH panel
2-3 daysY chromosome microdeletions of AZFa, AZFb, AZFc
Variants in FSHR (2039A>G) and FSHB (-211G>T)
1 ml Blood in
EDTA
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About Swagene
References
ASRM 2012, (Committee opinion in) Fertility and Sterility
RCOG 2011, Green-top Guideline 17
ACMG 2007, Consensus statement on FactorV Leiden mutation testing
BSH 2011, (Clinical guideline in) British Journal of Haematology
ACMG 2013, (Practice Guideline in) Genetics in Medicine
BSH 2001, (Guideline in) British Journal of Haematology
Altmae S et al 2011, Human Reproduction Update
Male infertility
Recommended
by
Y Chromosome Microdeletions (YCMD) panel
Male FSH panel
Azoospermia, severe
oligozoospermia
Prior to varicocoelectomy or
testicular sperm extraction in severe
oligozoospermia or azoospermia
Cryptorchidism, testicular atrophy
Azoospermia, non-obstructive
Oligozoospermia (<39 million total
sperm count)
Idiopathic infertility (eg:
normozoospermia)
Depending on the type and extent of microdeletions in the
azoospermia factor regions of the Y chromosome (AZFa,
AZFb, AZFc), it is possible to ascertain whether
varicocoelectomy, or which testicular extraction procedure,
will have therapeutic benefits. For instance, 50% success for
testicular sperm extraction (TESE) may be achieved even in
complete AZFc deletion.
41% men in the general population have variant FSH
receptor, and >8% have variant FSH beta-subunit. A much
higher proportion of infertile men have these variations. The
former causes decreased FSH receptor activity, and the latter
leads to lower FSH expression. A short-term treatment with
FSH can markedly increase their sperm count and quality,
and fertility outcome12, 13.
~10% of
infertile men
8-41% men have
FSHB and/or
FSHR variants
American Society for Reproductive Medicine 8
American Urological Association 9
European Academy of Andrology 10
European Association of Urology 11
Indications:
Indications:
1
2
3
4
5
6
7
8
9
10
11
12
13
May 2015
ASRM 2012, (Committee opinion in) Fertility and Sterility 98
AUA 2011,The optimal evaluation of the infertile male: best practice statement
Krausz C et al. (EAA/EMQN) 2014, Andrology
EAU 2014, Guidelines on male infertility
Ferlin A et al. 2011, Fertility and Sterility
Selice R et al. 2011, International Journal of Andrology
Statin toxicity
Anti-hypertensive efficacy
Anti-coagulant dosage
Thrombophilia (hypercoagulability)
Swagene, translated as ‘My Gene’, offers cutting-edge genetic solutions enabling quick, personalized treatment for improving
individual treatment outcome and healthcare in general. Let us help you decode your patients' genes using targeted test panels, and
thereby save time and healthcare expenses.
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