INFERTILITY AND GENETICS

1. INFERTILITY
Presented by:
Mr. Dinabandhu Barad
MSC Tutor, SNC, SOA, DTU

2. INFERTILITY
• Infertility (subfertility): The failure to conceive after one year of
unprotected regular sexual intercourse. Subfertility can be primary
or secondary.
• Primary subfertility: The delay that occurs for couples who have had
no previous pregnancies.
• Secondary subfertility: The delay that occurs for couples who have
conceived previously, although the pregnancy may not have been
successful (miscarriage, ectopic pregnancy).

3. FACTORS AFFECTING FERTILITY
Increased chances of conception:
• Woman aged under 30 years
• Previous pregnancy
• Less than three years trying to conceive
• Intercourse occurring during six days before ovulation,
particularly two days before ovulation

4. FACTORS AFFECTING FERTILITY
• Woman’s body mass index (BMI) 20–30
• Both partners are non-smokers
• Caffeine intake less than two cups of coffee daily
• No use of recreational drugs

5. Reduced chances of conception:
• Women aged over 35 years
• No previous pregnancy
• Trying to conceive for over three years
• Intercourse incorrectly timed
FACTORS AFFECTING FERTILITY

6. Reduced chances of conception:
• Woman’s BMI < 20 or >30
• One or both partners smoke
• High caffeine intake
• Regular use of recreational drugs
FACTORS AFFECTING FERTILITY

7. CAUSES OF SUBFERTILITY
• Abnormal semen quality and sexual dysfunction are contributing
factors in 50% of subfertile couples.
• Subfertility affects one in 20 men.
• Male subfertility are caused by testicular or genital tract
infection, disease, or abnormalities.
• Systemic disease, external factors (drugs, lifestyle), or
combinations of these also result in male subfertility.

8. DRUGS THAT IMPAIR MALE FERTILITY
• Impaired spermatogenesis: Sulphasalazine, methotrexate
• Pituitary suppression: Testosterone injections
• Antiandrogenic effects: Cimetidine
• Ejaculation failure: α blockers, antidepressants
• Erectile dysfunction: β blockers, thiazide
• Drugs of misuse: Anabolic steroids, heroin, cocaine

9. TREATMENT OPTIONS AVAILABLE FOR
SUBFERTILE MEN
• Stopping adverse drugs and drug misuse like sulphasalazine
and anabolic steroids misused by athletes
• Timing and lifestyle changes
• Treating accessory gland infection
• Assisted conception: Intrauterine insemination and
intracytoplasmic sperm injection and donor insemination.

10. FEMALE SUBFERTILITY
• Anovulation, tubal subfertility, endometriosis, and fibroids are major
reasons for female subfertility.
• Anovulation: Disorders of ovulation account for 30% of infertility and
often present with irregular periods (oligomenorrhoea) or an absence
of periods (amenorrhoea).
• Many of the treatments are simple and effective; therefore, couples
may need only limited contact with doctors.

11. FEMALE SUBFERTILITY
• However, not all causes of anovulation are amenable to treatment by
ovulation induction.
• Anovulation can sometimes be treated with medical or surgical
induction, but it is the cause of the anovulation that will determine
whether ovulation induction is possible.

12. CHROMOSOMAL
• Turner’s Syndrome (45,X): Underdeveloped streak ovaries resulting in
primary ovarian failure (premature menopause).
• Androgen Insensitivity Syndrome (46,XY): Women have 46,XY
karyotype with intra-abdominal gonads that are testes but have
developed phenotypically as a female because of the absence of
androgen receptors. The vagina ends blindly as there is no uterus and
pregnancy is impossible.

13. TUBAL SUBFERTILITY
• Patent fallopian tubes are a prerequisite for normal human fertility.
However, patency alone is not enough—normal function is crucial.
• Fallopian tubes have a crucial role in picking up the eggs and transporting
the eggs, sperm, and embryo.
• The fallopian tubes are also needed for sperm capacitation and egg
fertilization.

14. TUBAL SUBFERTILITY
• The fallopian tube is vulnerable to infection and surgical damage, which
may impair function by affecting the delicate fimbriae or the highly
specialized endosalpinx.
• A fallopian tube obstruction occurs in 12–33% of infertile couples and
hence tubal patency should be investigated early.

15. CAUSES OF TUBAL DAMAGE
• INFECTION: Pelvic infection is a major cause of tubal subfertility.
Infective tubal damage can be caused by sexually transmitted
diseases, or can occur after miscarriage, termination of pregnancy,
puerperal sepsis, or insertion of an intrauterine contraceptive device.
Pelvic infections are most commonly caused by Chlamydia
trachomatis, Gonorrhoea, and genital tuberculosis.

16. ENDOMETRIOSIS
• Endometriosis is present in 20–40% of women who complain of
subfertility.
• Endometriosis is characterized by the presence of growth of
endometrial tissue outside the uterus and is often associated with
symptoms of dysmenorrhoea, dyspareunia, and subfertility.

17. ENDOMETRIOSIS
• Pelvic examination may show tenderness, nodules of endometriosis
on the uterosacral ligaments or an enlarged ovary, which may be
secondary to an ovarian endometrioma.
• The diagnosis of endometriosis is generally confirmed by
laproscopy. Preoperative ultrasonography is helpful to diagnose the
likely cause of a tender and enlarged ovary.

18. ASSISTED REPRODUCTIVE
TECHNIQUES
• Many assisted conception modules are offered to subfertile couples
based on the etiology of subfertility.
• Intrauterine insemination: For men with ejaculatory dysfunction and
difficulty in coitus, semen sample is collected, washed, prepared, and
deposited into the uterus at a time when ovulation is likely or
assisted.

19. ASSISTED REPRODUCTIVE
TECHNIQUES
• The sample is washed; prepared motile sperm is deposited in the
uterus just before the release of the egg in a natural or stimulated
cycle.
• The technique is effective when it is combined with mild
superovulation using gonadotropins.
• It is simpler, cheaper, and less invasive than IVF or ICSI and has fewer
complications.

20. INTRACYTOPLASMIC SPERM
INJECTION (ICSI)
• A single sperm is injected into the cytoplasm of the egg to attain fertilization.
• Multiple defects of sperm (concentration, motility, and morphology) show poor
success in IVF; hence, ICSI is preferred.
• ICSI is a specialized variant of IVF treatment in which fertilization is achieved by
the injection of a single sperm directly into the cytoplasm of the egg.
• Only mature eggs are suitable for injection with prepared sperm.
• A single sperm is carefully examined and selected for normality of its
morphology and with a fine glass needle it is inserted directly into the cytoplasm
of the egg.

21. IN VITRO FERTILIZATION (IVF)
• In IVF, oocytes (obtained surgically from ovarian follicles in
superovulated cycles) are prepared and are brought together in a dish
in the laboratory.
• Fertilization takes place outside the body (in vitro = glass).
• Cleavage stage embryos derived from these fertilized oocytes are
placed in the uterus (embryo transfer) for pregnancy to occur.

22. DONOR INSEMINATION
• It is advised to couples who suffer from azoospermia or failed ICSI.
• Donors are hired by sperm banks and are screened for history of
medical or genetic disorders and sexually transmitted infections.
• The women must have atleast one fallopian tube functional and must
be ovulatory to achieve success by donor insemination.
• Counselling must be imparted to both partners to explore all the
issues related to the use of donor gametes.

23. THANK
YOU