It is a known fact that genetics plays a vital role in the field of medicine. Reproductive Genetics is a branch of medical science that tries to understand how genetics contribute to the reproductive process - both assisted and natural.
In this article, we discuss the effect of genetics on the reproduction process as well as fertility:

Reproductive Genetics and Infertility
One of the major areas of study in reproductive genetics is infertility. There are heterogeneous reasons behind male and female infertility. The genetic factors being one of them can cause chromosomal abnormalities or structural abnormalities. Let us discuss below the effects of genetic factors on both female and male infertility:
The sexual disorders caused due to genetic factors that lead to female infertility are:
Fragile X syndrome is caused due to the permutation that ranges between 55 and 200 repeats in the FMR1 gene. It can lead to ovarian insufficiency and premature ovarian failure.

Blepharophimosis, ptosis, epicathus inversus syndrome happens due to mutations in the FOXL2 gene. Symptoms include small palpebral, fissures and gonadal insufficiency.
Galactosemia is caused due to the mutation of DNAH5ation on the GALT gene that leads to developmental delay and ovarian insufficiency.
Premature ovarian failure, ovarian dysgenesis happens due to BMP15 mutations on chromosome Xp which leads to primary ovarian insufficiency
Genetic Factors and Male Infertility
Following are the disorders caused due to genetic factors that may lead to male infertility.
Kallmann syndrome occurs due to the mutation in the KAL1 leading to asthenozoospermia or reduced sperm motility.

Cystic fibrosis occurs due to CFTR gene mutation and causes obstructive azoospermia and congenital absence of vas deferens (CBAVD).
Primary ciliary dyskinesia happens due to the mutation of DNAH5 gene that leads to asthenozoospermia.
Myotonic dystrophy occurs due to DMPK1 gene mutation and can cause OAT progressive
Kennedy syndrome is caused due to an expanded CAG trinucleotide repeat sequence in the androgen receptor gene leading to leading to oligospermia or azoospermia.
Noonan syndrome is majorly caused by the mutations in the PTPN11 gene that leads to cryptorchidism and delayed puberty resulting in progressively deteriorating sperm quality.
Aarskog-Scott syndrome can lead to an acrosomal defect which is caused by the mutation of FGD1

Globozoospermia is caused to the mutation of three genes namely SPATA16, PICK1, and DPY19L2. This leads to round-headed spermatozoa lacking an acrosome.
Macrocephalic sperm leads to polyploidy and multiflagellar sperm and is caused by the mutation of AURKC

Astenospermia is caused to the CATSPER gene mutation that may lead to sperm immotility

Genetic Factors and Diagnosis

Infertility caused due to genetic factors can be diagnosed in the following ways:
Clinical History
At first, the doctor will take a detailed history of the past ailments or diseases, surgeries, medications used, etc. will be taken.
Family History
Since there is a high risk of passing the genetic condition to the next generation, taking a detailed family history helps the doctors in understanding molecular characterization of genetic conditions by next-generation sequencing and microarray analysis.
Genetic Screening
Diagnostic testing: Molecular or cytogenetic testing is often done to confirm a genetic diagnosis.

Carrier testing: This testing is done in consanguineous couples, newborn screening tests, to diagnose a recessive or X-linked disorder in a child or adult to screen the heterozygous state of an autosomal recessive, X-linked gene or a balanced chromosome rearrangement.
Presymptomatic screening: This test is done in individuals who are at the risk of developing any genetic conditions. By this test they can know whether they are gene carriers or not.
Childhood testing: This diagnostic testing enables the child and the parent to understand the genetic basis of the condition and take appropriate treatments.
Non-invasive prenatal diagnosis: This test helps in establishing the fetal genotype. Fetal sex, RhD status, paternally inherited single gene and down syndrome can be determined with this test.

Invasive prenatal diagnosis: The tests involved in this type of diagnosis are amniocentesis, chorionic villus sampling and fetal blood sampling procedures.
How Reproductive Genetics Help Treat Infertility
Preimplantation Genetic Diagnosis (PGD)
PGD enables couples to have their own child who is unaffected by any genetic conditions. This is a treatment cycle that offers testing for over 200 single-gene and chromosomal disorders. It is seen that the success rate of a non-carrier female pregnancy with PGD has increased.
It involves the analysis of embryonic tissues taken from the embryos formed using assisted reproductive technology (ART) by a polar body, blastomere or trophectoderm biopsy. Only the unaffected embryos are transferred into the uterus to continue pregnancy thus growing into a child free from any genetic conditions.

Fetal Stem Cell Therapy
This involves in utero stem cell transplantation which enables in treating inherited hematological, metabolic and other early-onset genetic diseases.
Prenatal Gene Therapy
Prenatal Gene Therapy aims to correct a genetic defect before tissue damage has occurred. This is achieved by delivering genes to tissues and cells in the prenatal stage.

Preconceptual counselling is a session or meeting with a doctor by an expecting couple before conception. Such a meeting includes an assessment of potential risk factors and medical complications that may arise during the period of pregnancy.
Pre-conceptual counselling address three key areas of pregnancy: medical, social and psychological. With the help of a multidisciplinary approach, these sessions help a couple to successfully overcome obstacles that may arise during pregnancy.
The main components of preconception care are physical assessment, risk screening, vaccinations, and counselling. For the same the couple is advised screening tests as well as comprehensive assessments and checklists.

Importance of Preconceptual Counselling
Men also play an equally important role for planning pregnancy.
So the assessment of both partners is necessary. When exposed to certain harmful substances men may face fertility issues. This substance exposure may then elevate the risk of a possible number of birth defects or risk factors. Hence, the responsible development of fatherhood is equally important as motherhood for optimal conception to take place. In comparison to women, men have lesser knowledge of reproductive health and the essential steps that they should keep in mind when planning a family. The proactive involvement of men is essential to improve the chances of conceiving. And, the preconceptual counselling helps both men and women when it comes to planning a family.

Assessment of both partners is done regarding possible use of any drugs, toxins, chemicals, and health consequences of tobacco use, alcohol and substance abuse on upcoming pregnancy. Screening for any medical disorder, family history of any genetic disorder, nutritional assessment and laboratory test for the same are done.

So it is important to go for preconceptual counselling to understand the risks and how to eliminate them.
If the couple is at risk for having a child with any genetic diseases such as sickle cell anaemia, autosomal dominant polycystic kidney disorder, cystic fibrosis etc, are advised genetic counselling and recommended specific tests.

Benefits of Preconceptual Meetings
Pre-conceptual meetings benefit the father to-be in a number of ways as the doctor provides information about the risk factors and how to eliminate them.

These sessions encourage the father-to-be:
To quit smoking and avoid drugs, reduced consumption of alcohol as well as learn about the harmful side effects of these in the process of conception
Stop usage of certain medications

These sessions also offer information related to:
Adverse health effects by providing knowledge and necessary steps

Genetic factors
Mental health issues
Importance of having a support group and a safe environment
Emerging or undetected existing illness and their correction such as control of hypertension, diabetes and proper management of hypothyroidism.
Advice on vaccination of women against rubella and hepatitis B.
Nutritional supplementation like Folic Acid.
Avoidance of teratogenic drugs.
The goal of pre conception care is creating awareness and promoting better reproductive outcome through health education, nutrition and managing risk factors.
When you are going for a preconceptual counselling, do your research and choose a qualified doctor in order to reap optimum benefits.

Egg freezing, which is medically known as oocyte cryopreservation, is a process that is used to preserve a woman's reproductive potential. It is an option for those women who are not ready to start a family as yet but want to ensure their ability to get pregnant at a future time. For this, eggs are harvested from the woman's ovaries, preserved in a frozen unfertilized state, and stored for future use. When the woman decides to have a child, the frozen egg is thawed, fertilized with sperm in a lab, and then implanted in her uterus. This process is known as In-Vitro Fertilization (IVF).

The Egg Freezing Procedure
The egg freezing procedure involves the following steps:
Ovulation induction
Egg retrieval
Egg freezing

Let's discuss each step in detail:
Ovulation Induction
In this step, synthetic hormones are introduced to the woman's body at the start of her menstrual cycle to stimulate her ovaries. The aim is to ensure that her ovaries produce multiple eggs instead of the single egg that she usually produces every month. The follicles get ready for egg retrieval after about 8 to 14 days. At this point, hcG hormones or other medications are injected to help mature the eggs.

Egg Retrieval
Egg retrieval is a short procedure carried out under sedation. The common method adopted for the purpose is transvaginal ultrasound aspiration. In this approach, an ultrasound probe is introduced in the vagina for follicle identification. Then a needle is passed through the vagina to reach the follicle. Using a suction device that is attached to the needle, multiple eggs are removed from the follicle.

Egg Freezing
Once the unfertilized eggs are retrieved, they are cooled to a sub-zero temperature so that all their biological activities can be rendered motionless and they can be preserved for future use. To prevent ice crystal formation during the freezing process, substances called cryoprotectants may be used.

Proper freezing of eggs is important because if not preserved correctly, it can impact the chances of a successful pregnancy.

If you are not ready to raise a family as yet and want to freeze your eggs for future use, then you are not alone. A large number of women today are taking advantage of the egg freezing procedure to make sure that they can build a family when the time is just perfect for them. However, there are a few things to consider before you take the leap for freezing your eggs.

Cost
One important factor is the cost involved in egg freezing. The total cost includes medication, treatment, and egg storage, and it is not cheap. But the decision to freeze your eggs can save you thousands of dollars in the future for fertility treatment. Since it is an expensive matter, it becomes important to know if you can avail insurance cover for freezing eggs.

Is It Covered by Insurance?
The fact is that insurance varies by payment as well as the provider. However, oocyte cryopreservation, which is commonly known as egg freezing, is generally not covered fully by insurance. But some parts of this procedure are covered by many insurance companies. So, if you are considering getting insurance for freezing eggs, you will first have to know which parts of the process can get coverage and then go for a cost-benefit ratio analysis.

Cost-Benefit Ratio Analysis
Cost-benefit ratio analysis involves considering the total cost of the egg freezing procedure and the cost covered under insurance and comparing this to the beneficial aspect of the procedure. This will give you a good idea of the monetary obligation in this matter.

The Bottom Line
Your decision to freeze or not to freeze your eggs must not depend on the financial aspect alone. You will have to consider the benefits of the process as well as the future costs involved for fertility treatment. Once you are clear about these aspects, you can select a suitable insurance company to help you out with egg freezing insurance.

Over the years, there had been many speculations about the impact of exercise on IVF treatment's success rate. We are well aware of the fact that regular exercise and a healthy diet are crucial during IVF. But, can any amount of physical activities after IVF decrease the chance of live birth, cause implantation failure or pregnancy loss?

With the IVF process, countless numbers of couples have enjoyed the fruits of parenthood. But, to achieve a successful pregnancy, women need to maintain a good health and optimal weight through exercises that are just enough to increase the chances of conception without causing any harm.

In the ways given below, we can understand the impact of exercise after IVF:

Moderate Exercise
Changing your long-followed strenuous exercise routine to mild and moderate ones may be frustrating for some. Fertility experts suggest avoiding high impact exercises like aerobics or strength training during and after the treatment. After this time period, one may resume all normal day-to-day activities. Limiting to moderate activities such as walking is advisable unless any other complications arise.

Post-egg Retrieval
During the week of post-egg retrieval, one may be on fertility medications. Though, due to the side-effects of these fertility medicines such as bloating, fatigue and other discomforts, it is usually less likely to feel like exercising, it is important that during this time, one should restrict themselves to no or mild physical activities.

The Type of Treatment Preceding the Embryo Transfer Matters
For an embryo transfer, either conventional stimulation cycles or frozen cycles may be used. With conventional stimulation, if one is in high risk of developing ovarian hyper stimulation syndrome (OHSS) then their physical activities may be highly modified to avoid any ovarian torsion. With frozen cycles, moderate aerobic activities and resistance training may be allowed.

During the inception years of IVF patients were advised bed rest after embryo transfer but with growing knowledge and research in this field has proven that bed rest does not have any impact on improvement of pregnancy and patient can resume normal day to day activity after embryo transfer.

The type and duration of work out is different for each individual according to their medical history so one should discuss with their doctor for any queries.

ICSI is a microscopic technique used to fertilize eggs with sperms. As opposed to conventional IVF, where the eggs and sperms are mixed in a petridish and left alone to fertilize on their own, in ICSI, each sperm is picked up under the microscope with the help of a needle and injected into each egg for fertilization.

Who is ICSI suitable for?
Conventional IVF requires the presence of a large number of sperms that can swim actively and are morphologically normal. For some couples, the number of available sperms may be too low for them to be able to actively swim up to an egg and fertilize it. They may be too weak to penetrate it. Or there may be other factors preventing fertilization, so for these couples IVF is not an option. However, ICSI provides hope in these circumstances.

The only step different between ICSI and IVF is the method of fertilization. As far as the patient is concerned, all the steps of the clinical part of the treatment are identical in both the procedures.

In what situations is ICSI recommended?
ICSI is recommended in situations where achieving fertilization may be difficult. These include:
Low sperm counts
Poor sperm motility
High percentage of abnormal sperms
When sperm has been extracted by electro-ejaculation
In cases of azoospermia, where sperm has been surgically extracted directly from the epididymis (PESA) or testes (TESA/TESE)
When there has been a previous fertilization failure or low rates of fertilized eggs after conventional IVF

When using frozen oocytes
Where there are less number of eggs available, such as poor responder women, to ensure better fertilization rates
Azoospermia is the complete absence of sperms from the ejaculated semen sample, that is, the sperm count is zero. It may be of two types: obstructive or non-obstructive. Obstructive azoospermia occurs due to a blockage that prevents sperms that are normally produced in the testes from coming out into the ejaculate. This may happen due to a previous vasectomy, due to congenital absence of the vas deferens, or due to infections in the past that may have caused scarring. In such cases, the chances of obtaining sperms via a PESA or TESA are good. However, as the sperms obtained are too few, ICSI is required. In cases of non-obstructive azoospermia, the testes fail to produce sperms. In some cases, sperm production may be present but too low. In such situations also there is a possibility of performing ICSI with sperms obtained surgically, though they may be absent in the ejaculate.