Preimplantation genetic diagnosis (PGD) is a procedure which involves checking the genes or chromosomes of the embryos prior to implantation to help identify genetic defects within embryos. This helps to prevent certain genetic diseases or disorders from being passed on to the child before it is transferred.The embryos need to be tested in a lab prior to implantation into the womb, even if the partners have no fertility problems. Embryos which have been tested for genetic defects and are free of the condition will be transferred into womb and allows the identification and transfer of embryos free from aneuploidies to the mother.It also significantly increases pregnancy rates per transfer and reduces the time needed to achieve pregnancy.The embryos used in this procedure are usually created during the process of in vitro fertilization (IVF). With PGD testing, embryos created through IVF procedure are cultured in a laboratory for three days until they reach the 8-cell stage. At this stage a blastomere biopsy is done in which one or two of the blastomeres are removed by inserting a micropipette through the zona pellucida which surrounds the embryo.
It is significantly helpful when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to determine if it also carries a genetic abnormality to the child.PGD provides an alternative to current postconception diagnostic procedures (i.e. chorionic villus sampling or amniocentesis) which are usually followed by the difficult decision of abortion if results are unfavorable. It is currently the only options available for avoiding a high risk of having a child affected with a genetic defect prior to implantation.It is consisted two steps, extraction of one or two cells from an IVF-produced embryo and application of the PGD test. PGD is important for doctor and embryology because it has advanced IVF results and allowed couples more opportunities to deliver a healthy child free from any potential genetic defects.
PGD was originally developed in the early 1980s as an alternative to post-implantation prenatal testing. The only other forms of prenatal diagnosis available involved chorionic villus sampling (CVS) and amniocentesis before this technology. Both of these technologies imply the examination of embryos during later stages of fetus development, when the embryo is already developing inside the mother womb. Couples who choose any of these tests must decide whether or not go for abortion if test results suggest positive for a particular genetic disease.In the initial stage of its development, PGD was used as a form of gender selection to avoid having a child with a sex-linked disease. Couples using PGD often choose to have only girls since males are prone to be affected by X-linked genetic disorders. PGD rapidly came to be used for three main groups of inherited disease, single-gene mutations such as cystic fibrosis and sickle cell anemia, chromosomal abnormalities such as Down syndrome and sex-linked disorders such as hemophilia.
Although PGD was originally thought to be a mechanism to dispose embryos affected by a particular genetic disease.Some couples have used PGD as a means of creating siblings who can provide transplants for their older siblings.
As women with POI have lower levels of certain hormones, several health problems are more common than in women without POI, including:
Infertility: Women suffering from POI, generally unable to get pregnant naturally. They may carry a pregnancy but, in most cases, adonor eggsare required.
Heart disease: Low estrogen level early in life can affect the muscles lining the arteries and can increase the formation of cholesterol in the arteries. These factors can increase the risk of atherosclerosis (hardening of the arteries) which increases the risk of heart attacks further.
Anxiety and depression: Hormonal changes caused by POI can result to anxiety or lead to depression. Many women with POI may feel sadness about their unexpected loss of ovarian function. Women with POI should discusses their feelings with their family members, medical provider and may need to discuss with a qualified therapist.
Dry eye syndrome and eye surface disease: Some women with POI can have one of these eye diseases. Both diseases can cause discomfort and may lead to blurred vision. These conditions can cause permanent eye damage, if not treated seriously.
Osteoporosis: The hormone estrogen required to keep bones strong. Women with POI often develop osteoporosis without enough estrogen. It is a bone disease that increase the risk of weak bone, brittle bones or bone loss and fractures.
Low thyroid function: This health problem also is known as hypothyroidism. The thyroid is a gland that produces hormones that control body’s metabolism and energy level. Low levels thyroid hormones can affect your metabolism and can result in very low energy, mental flatness and other similar symptoms.
How is POI diagnosed?
if you are younger than 40 and have irregular periods or stopped having irregular ones, immediately consult with your doctor to find the root causes of the ongoing problem. To diagnose POI, your health care provider may perform:
A medical history: Your health care provider may ask whether you have relatives with POI or other health conditions such as an autoimmune disease, endocrine problems or a neurological condition.
A pregnancy test: A test can be done to make sure that you are not pregnant.
A physical examination: To look for signs of other disorders which could be causing your symptoms.
A pelvic ultrasound: An ultrasound may be used to check whether or not the ovaries are enlarged or have multiple follicles.
Blood tests: A blood test has been done to check for certain hormone levels. With this test your health care provider (HCP) can find out if your ovaries are working properly or not and to check the level of FSH (Follicle Stimulating Hormone) in your blood. This blood test can be repeated before the diagnosis can be made.High levels of FSH usually indicate presence of POI. Other hormones including an “AMH” (Anti-Mullerian Hormone) can be evaluated and genetic tests may be done to check if there is a medical reason for the Primary Ovarian Insufficiency (POI). Other blood test can be done to do a chromosome analysis. A chromosome is the part of a cell that contains genetic information.
Some specific tests should also be performed to check for autoimmune conditions or possible genetic that might be related to the ovarian insufficiency.
Traditionally infertility has been considered as a woman’s problem, but it is found that one out of every three cases of infertility is associated with man. A diagnosis of male infertility can be one of the toughest situations a man can have.Not being able to father a child can make a man feel like he is the culprit of his partner to not able to bear a child.
A man’s fertility generally associated with the quantity and quality of his sperm.If the number of sperms a man ejaculates is of a poor quality or low, it will very be difficult and sometimes impossible for him to become a dad. A male infertility diagnosis includes a medical history, physical, general hormone tests, more semen analyses and some other more laboratory tests.
Questions related to Medical History may include:
A discussion of related to your past medical history, any chronic health problems, any inherited conditions and injuries or surgeries that could affect fertility. Your doctor might also discuss things related to your sexual development during puberty and your sexual habits.
Your doctor may ask questions about your family history of infertility or birth defects.
A discussion that may involve information regarding social history and occupational hazards to find out any potential exposure to dangerous substances that could have a bad impact on your fertility.
Questions related to physical examinationmay include:
This includes physical examining your genitals and the evaluation of the pelvic organs like, testes, penis, scrotum and prostate.
Laboratory Tests may include:
Semen Evaluation: A doctor may ask for the sample of semen for further evaluation. Semen samples can be collected in different way.You can be asked to provide the sample by masturbating and ejaculating into a special container at the clinic itself. But due to some cultural or religious beliefs, some prefer other alternative method way for the sample. In this case the semen can be collected in to a special condom during intercourse. The semen is then sent to a laboratory for the evaluation of sperm motility or movement, maturity and shape of the sperm, the volume of the ejaculate and the actual sperm count and the liquidity of the ejaculate. The lab will also perform the tests for the signs of problems such as infections related to your semen. If your sperm analysis found to be normal, your doctor will likely go for the testing of your female partner before conducting any further male infertility tests.
Hormone testing: Hormones produced by the pituitary gland, hypothalamus and testicles may be evaluated to check levels of testosterone and FSH (follicle-stimulating hormone) to determine the overall balance of the hormonal system and specific state of sperm production in your body. Abnormalities in other hormonal or organ systems also might increase the chance of infertility. Serum LH and prolactin are other hormonal tests that may be evaluated if initial testing indicates the need for them.
Hormone testing: There could be a genetic cause, if concentration of your sperm is extremely low. A blood test can check whether there are significant changes in the Y chromosome(signs of a genetic abnormality). Genetic testing might be considered to diagnose various inherited, congenital syndromes or chromosome abnormalities, that may cause the lack of sperm or lead to developmental problems of infertility.
Anti-Sperm Antibodies: Some male can produce abnormal antibodies that obstruct the sperm on the way to the egg, which prevent your partner from getting pregnant. For such male, making sperm isn’t the real issue. It is getting the sperm where they need to go. Male with these problems have normal sperm in their testicles, but the sperm in semen are either abnormal, missing or in low numbers.There are several other reasons exist the male might have low sperm in their semen even if his body makes enough of it. A medical examination can also be performed to check these problems and to identify the presence of antibodies that may contribute to infertility.
Scrotal ultrasound: An ultrasound of the man’s scrotum performed to detect varicoceles (varicose veins) or duct obstructions in the prostate, seminal vesicles, scrotum and ejaculatory ducts. A transrectal ultrasound also closely looks at the vesicles and ejaculatory ducts that transfer semen.
Post ejaculatory urinalysis: This test performed to check for the presence of sperm in a man’s urine indicating retrograde ejaculation.
Hypo-osmotic swelling: This a laboratory test that uses a special sugar and salt solution to evaluate the ability of the sperm to penetrate the egg and the sperm’s tail. The tails of healthy sperm supposed to swell in the solution as compared with dead or abnormal sperm where the tails do not swell.
Acrosome reaction: A laboratory test that helps to find out if sperm heads are able to go through the chemical changes which is very important to dissolve an egg’s tough outer shell.
Sperm agglutination: A laboratory test involving the examination of sperm under a microscope to evaluate if the sperm are bundling together. Bundling prevents sperm from swimming through the cervical mucus.
Sperm penetration assay: A laboratory test uses hamster eggs to evaluate a sperm’s capability of penetrating the egg. Although this test is rarely used.
Acrosome reaction: A laboratory performed to check and determine if sperm heads are able to go through the chemical changes requisite to dissolve an egg’s tough outer shell.
Vasography: This is an x-ray exam which is used to determine if there is blockage or leakage of sperm in the vas deferens.
Hemizona assay: It is a laboratory test in which a non-usable human egg is cut in half. The main purpose of this test is to check if the sperm are able to penetrate the outermost protective layer of the egg.
Kruger and World Health Organization (WHO) Morphology: This is performed to evaluate sperm shape and features more closely.
Seminal Fructose Test: This test is performed to identify if fructose is being added properly to the semen by the seminal vesicles. Infertility diagnosed in Female
Fertility preservation is a greatest option for those people who are diagnosed with cancer or other health issues. Family planning has fundamentally changed as compared to generation ago.
Progressively, women are postponing childbearing for non-medical reasons. For example, pursuing a career, unstable relationship, and financial deliberations. As a result, over the past 40 years, the age of a woman’s first pregnancy has been gradually rising.
When a woman should freeze her eggs?
If woman who is not ready to have a child now but wants to conceive later by her preserved eggs, should keep in her mind about right time of freezing her eggs. The best time for a woman to freeze her eggs is under the age of 30. The number of mature eggs frozen allows for the best prediction of ultimate pregnancy. For example, with ten frozen eggs the chances of a live-birth is twice as high for women under age 35 and under than for those over the age of 35.
When a man should freeze his sperms?
Various studies have now revealed that a man’s sperm production and quality declines with age and male fertility appears to wane after the age of 40 – 45. Due to their ability of continuously producing sperms throughout their lives, there are less apparent guidelines for men on non-cancer/non-medical fertility preservation, but under the age of 40 is a reasonable time.
How to Make a Decision of Preserving Fertility?
This is an extremely difficult question and one that requires consultation with an infertility specialist as well as a reproductive health counselor such as Dr Shivani Sachdev Gour. The pursuit of fertility is a physical, emotional, and financial investment with all three of these factors carrying equal weight and importance. People should decide very carefully before the preservation. Dr. Shivani discusses some issues that people must keep in mind before fertility preservation:
Financial Constraint: Fertility Preservation is an expensive process as it requires some medical tests and sperm/egg preserving labs. People have to pay for the time duration they need to keep their sperms preserved in these labs. Thus, they must be sure about preservation of fertility and make decision according to their financial condition.
Health Issue: Some people who want to become parents but they are cancer patients or surviving from any other disease where they cannot conceive, must think and decide very carefully about preservation of fertility. Anxiety is common in risky condition of health therefore a great patience is necessary during decision making by the suffering people.
Emotional Issue: People keep them emotionally strong for preservation of fertility.Because some of the people worry a lot about success rate of procedure. They keep thinking about future that whether they able to conceive using preserved egg/sperm in future or not. This is also an issue which can affect their decision of fertility preservation.
Unstable Relationship: Some couples have not stable relationship. It is very big issue for them to decide whether preserve their fertility or not. They should be ready for the future preservation about fertility after a deep discussion between both of the partners.
While advances in technology today allow for immediate and effective fertility preservation for men and women, in spite of that it is necessary never to pursue a pregnancy until peoples are physically, emotionally, financially prepared, and in a stable relationship, if applicable.
Many couples are unable to gain their own child due to infertility, which can be in men or women. To conceive their own baby, they can opt different techniques such as IUI, IVF, Surrogacy, and so on. These techniques are performed under supervision of specialists in various hospitals.
Intra-uterine insemination is the name given to a procedure where sperms are placed into the female reproductive system by a means other than intercourse. IUI is the most common form of artificial insemination, used and involves placing sperm into the female’s uterus through an assisted medical process. As it is a relatively low-tech solution to infertility problems, IUI is usually one of the first techniques used to assist a couple who is having difficulty becoming pregnant.
Limitations of IUI
There are following limitations when IUI is not effective:
A blocked or damaged fallopian tube.
Ovarian failure (menopause)
Severe male factor infertility such as no sperm, very low sperm count, poor sperm motility (movement) and sperm defects. In all these cases donor sperm may be an option.
A female partner over the age of 40.
First, warmed and ‘washed’ (treated) sperms are introduced into the woman’s uterus through a tube. Sperm can be provided by the woman’s husband/partner (artificial insemination by husband – AIH) or sperm provided by a known or anonymous sperm donor (artificial insemination by donor – AID or DI). The procedure is done around the time of ovulation to give the best chance of conception. Hormonal (fertility) medications might be used in conjunction with the treatment to enhance conditions for a pregnancy.
Reasons of Selecting IUI
IUI is mainly used when timed intercourse or hormonal medications alone have not worked. It is also used if ‘mild’ sperm abnormalities such as poor motility are found. It is also used in conjunction with donor sperm by same sex female couples or by women who don’t have a partner. Some additional conditions are there that leads to select IUI as an option for infertility treatment.
Nominal Endometriosis: Endometriosis is a condition where the tissue grows inside the uterus wall, ovaries and fallopian tubes. IUI is helpful to eliminate this situation.
Open Fallopian Tube: IUI is used if fallopian tube is found open.
Ovulation Problems: Ovulation is a process in which women releases eggs on monthly basis. But if some irregularity in ovulation or totally on ovulation occurs that may cause infertility. IUI is helpful to conceive in this situation.
Backward Ejaculation: This condition occurs when semen goes backward into the bladder instead of coming out of the penis.
Unexplained Infertility: If a woman is not able to conceive, even after trying for 1 year considering that menstruation cycle and semen is normal. This condition can not be explained as there is no particular reason for that.
Mucus Hostility: May arise as a result of a vaginal infection or the presence of anti-sperm antibodies in the mucus.
Ejaculation Problems: Due to psychological problems such as impotence or anatomic problems of the penis, such as paraplegia.
Surrogacy is a promising treatment for infertility. It can potentially solve many intolerable difficulties that the infertile couples and their families face. A Surrogate or Surrogate Mother is a woman who bears a child on behalf of another woman, either from her own egg fertilized by the other woman’s partner or from the implantation of a fertilized egg from the other woman in her uterus.
A couple, who want to have baby through surrogacy, has to take a decision on the type of surrogacy they want to pursue.Surrogacy is categorized into two types:
In traditional surrogacy, the surrogate is biologically linked with child she carries thus this surrogacy is also known as partial or genetic surrogacy. The genetic relationship between child and surrogate makes traditional surrogacy emotionally complicated. Traditional surrogacy is mostly used by single men, same-sex male couples and women who cannot produce healthy eggs because they need a donor’s eggs. When the intended surrogate is inseminated with the semen of the husband of the couple, the procedure is known as straight surrogacy or traditional surrogacy.
Gestational surrogacy, also called partial surrogacy or host surrogacy, is the most common type of surrogacy today. In gestational surrogacy, the surrogate mother is not genetically related and will be free from all responsibilities after delivery of the child.
When a sperm or an ovum is donated by a third party, fertilized by IVF, and transferred to a surrogate, it is called Gestational Partial Surrogacy.
If both the sperm and ovum are donated by a third party, fertilized by IVF, and the resulting embryo is transferred to a surrogate, it is known as Gestational Full Surrogacy.
Traditional Surrogacy Vs Gestational Surrogacy
The major difference between gestational and traditional surrogacy is the surrogate’s biological connection to the child. Before opting surrogacy as an option, intended parents need to consider all of the following factors to decide between traditional vs. gestational surrogacy:
Medical Process: Traditional surrogacy uses IUI, whereas gestational surrogacy uses IVF as medical procedure.
Legal Process: Traditional surrogacy laws tend to be more complicated than gestational surrogacy laws. In traditional surrogacy, surrogate mother also has parental rights and need to be terminated after the baby is born.These additional legal procedures are not required in the gestational surrogacy process.
Costs: The cost of gestational surrogacy is considered to be higher than that of traditional surrogacy. This cost difference is due to the different medical process it involves. IUI is less expensive than IVF and tends to involve fewer medical procedures and fertility treatments.
Risks: Traditional surrogacy contains a greater emotional and legal risk than gestational surrogacy. In traditional surrogacy, being the biological mother of child, surrogate mother may possess emotional feelings for the baby. In that case, she can theoretically challenge the surrogacy arrangement in court, which could result in a lengthy and expensive legal battle for everyone involved.
Acceptance: Traditional surrogacy is banned in many countries including India due to its legal and emotional complications; whereas this is not the case with gestational surrogacy.
Going through any problems related to the reproductive system can be extremely irritating and painful. Most of the women ignore many little signs and problems and does not consult any gynecologist, which at the later point of time may result in far more greater and life-threatening issues. This is important for your health to find a good gynecologist and have a regular checkup every three months or so. So that you can stay healthy and come to know about any threats to your reproductive health at an early stage.
But finding a good gynecologist is not an easy feat. Choosing a gynecologist that has not only good practice but also understands you, requires some work.
Following are some points that you need to consider before selecting any gynecologist:
Finding a gynecologist who is also an obstetrician – If you are pregnant or are planning to get pregnant, it will be good for you if you select a gynecologist who is also an obstetrician. This way you don’t have to search for another good obstetrician to deliver your baby.
Years of practice – Though more years of practice does not make someone a great doctor, it surely makes a doctor more experienced and skilled. And if the doctor is really good with years of practice then he/she should be your best choice.
You feel comfortable with them – It is of utmost importance that you feel really comfortable around your gynecologist. If you are not comfortable enough to share all your problems and symptoms with the gynecologist, then he/she is not the right one for you. In India, one of the most important factors is the gender of the gynecologist. Most of the women in the country feel comfortable with a woman as her gynecologist and is comfortable in sharing her symptoms and concerns with a female instead of a male doctor.
They are affiliated to a hospital or have a clinic with all the facilities – It is really important that you select a gynecologist that is either affiliated to any hospital or have a clinic with all the facilities of her own. This will make your life much easier as you will not have to worry about rushing to different pathologies to get your tests done. Also, you don’t have to worry about finding a hospital in case of an emergency. Everything will be taken care of if your gynecologist has an up to state clinic or is affiliated to any hospital.
Easy Availability and Location – When going through pregnancy or any other reproductive system related treatment, you might often need to visit your gynecologist or need to call him/her to clear your doubts or concerns. So it is important that the gynecologist’s clinic is nearby your house and also that he/she is available to clear your doubts whenever you have any such doubts and problems. It is important for you that your gynecologist is available whenever you need him/her.
Friendly and Caring – If your gynecologist is not friendly or easy to go with, then you might not be comfortable enough for you to share all your doubts and problems with him/her. It is important that your gynecologist is polite and friendly and you can share all your concerns and problems with him/her without feeling hesitant.
These were the few points you can consider when searching for a gynecologist. Hope we were able to help you in your search for a good gynecologist.
Whenever we used to see such…. Thank you…cards on walls of SCI Hospital or other IVF Clinics from where we undertook earlier IVF cycles (and they failed EVERYTIME), we used to wonder that when would that Day come when I would be writing my own such card……. and now when this day has come, I find myself SPEECHLESS to how to express my happiness.
Only because of you…. Dr. Shivani, we have got success in our IVF cycle and I tell you that for US, you are only next to God!!
What touched me most is your personalized and humane approach.
You always patiently heard our concerns & fears and gave us your honest advice…which is a rare commodity these days.
Your staff too is very gentle…an exception in this brutally commercialized world.
Best of all…was ‘follow up process’ of SCI Hospital staff where they reminded us about Medicines, Injections, and Visit to Hospital etc.