Percutaneous Epididymal Sperm Aspiration

Percutaneous Epididymal Sperm Aspiration

Infertility is a complex problem and there are multiple facets of it. When patients come to me for infertility treatment, most of them do not know that there can be cases of male infertility. It is so common belief that infertility is a female problem and there is no male connection to it. The reality, however, is exactly reverse and statistically one third of the infertility cases are contributed by the male partner.

Treating male infertility is a complex problem in front of us and as an infertility expert I would say it is the most complex problem. Not only because of social issues, but because of physiological issues as well. Treating male infertility is much challenging than the female infertility. Complex testing methods are required to understand the root cause. Inappropriate sperm count; inferior sperm quality and less mobility can be some of the reasons for male infertility.
Percutaneous Epididymis Sperm Aspiration (PESA) is name of the technique used to determine the sperm count in a male. The procedure is very simple where the sperms are collected directly from the epididymis, the part of the testicle where these sperms are stored.

Why there is a need?

I would recommend PESA when:
The man is not able to ejaculate sperms due to the absence of a special tube known as deferens. This tube carries the sperms. The condition is known as azoospermia.
The man has undergone a vasectomy that failed.
There are dysfunctions in the ejaculation process.
The man is having the problem of retrograde ejaculation where the sperms go back to the bladder instead of going out through urethra.
What is the assurance of success?

OHSS

OHSS: A big roadblock in the infertility treatment
Treatment of infertility is sometimes very challenging. While most of the cases are quite simple and we cure them on the basis of knowledge base collected by the previous cases. However, there are a few cases that place immense complication in front of me and I need to really work very hard to deal with the situation. Ovarian hyper stimulation syndrome (OHSS) is one of the same cases and I need to pay extra attention towards every minor and major symptom that is abnormal.

Ovarian stimulation is required during the treatment of infertility and in fact, it is one of the most integral parts of the entire process. Ovaries produce eggs that take part in the fertilization process. In the normal scenario, female body produces one egg at a time that gets released from the ovaries and reaches to the uterus through the fallopian tube. Extracting eggs is a complex and painful process and we as infertility experts don’t want to give trouble to the female participating in the process. We use special stimulant drugs to cause release of multiple eggs. The process is very safe and there are seldom any side-effects. However, there is a big challenge in a few patients when Ovarian Hyper Stimulation Syndrome occurs as a side-effect of these stimulant drugs.

What happens in OHSS?
Ovaries overreact to the stimulant drugs resulting in a severe swelling. Ovaries become multiple times bigger and there is a leakage of fluid in the abdomen. It is a fact that most of the women undergoing infertility treatment with ovarian stimulant drugs face OHSS symptoms, but many of them not even recognize it.

Who are in the risk zone?
There are a few females with very high risk of OHSS syndrome and we infertility expert estimate the risk before starting the ovarian stimulant drugs.

a) Females under the age of 35
b) Females with a history of OHSS in the earlier treatment cycles
c) Females suffering from ovarian cysts
These are the cases where there is a high probability of OHSS and therefore, we plan the treatment accordingly. Although there is no alternative other than giving stimulant drugs to release multiple eggs, but we try to keep the situation under control.
Types of OHSS

List of PGD conditions

There are more than 100 genetic conditions that will require PGD test.


 5 Alpha Reductase Deficiency (5ARD) insofar as that condition affects males, with simultaneous sex determination
Acute Intermittent Porphyria
Acute Recurrent Autosomal Recessive Rhabdomyolysis (ARARRM)
Adrenoleukodystrophy (Adrenomyeloneuropathy)
Agammaglobulinaemia
Aicardi Goutieres Syndrome 1 (AGS1)
Alpers Syndrome
alpha thalassaemia/mental retardation syndrome*
Alpha-1-antitrypsin deficiency
Alpha-mannosidosis
Alports Syndrome
Alzheimers Disease - early onset
Amyotrophic Lateral Sclerosis 1 (ALS1)
Anderson Fabry Disease
Androgen Insensitivity Syndrome
Angelman Syndrome (UBE3A gene only)
Aplastic anaemia - severe*
Argininosuccinic Aciduria
Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia (ARVC/D), Autosomal Dominant
Ataxia Telangiectasia
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Dopa Responsive Dystonia
Autosomal Recessive Severe Combined Immunodeficiency with Bilateral Sensorineural Deafness
Bardet-Biedl syndrome (BBS)
Barth Syndrome
Battens Disease (infantile)
Beta Hydroxyisobutyryl CoA Hydrolase Deficiency (Methacrylic Aciduria)
Beta Thalassaemia*
Bethlem Myopathy
Bilateral Frontoparietal Polymicrogyria
Birt-Hogg-Dubé Syndrome
Branchio-Oto-Renal Syndrome (BOR)
BRCA 1 (increased susceptibility to breast cancer)
Breast Ovarian Cancer Familial Susceptibility (BRCA2)
Bruton Agammaglobulinemia Tyrosine Kinase (BTK)
Calpainopathy
Canavan Disease
Cardiac Valvular Dysplasia
Carney Complex
Catecholaminergic Polymorphic Ventricular Tachychardia 2 (CPVT2)
Central Core Disease of Muscle
Cerebral Autosomal Dominant Arteriopathy with Sub cortical infarcts and Leukoencephalopathy (CADASIL)
Cerebral Cavernous Malformations (CCM)
Charcot Marie Tooth Disease
Charcot Marie Tooth Disease Type 2
Charcot Marie Tooth Disease, demyelinating, type 1A (CMT1A)
Chondrodysplasia Punctata
Choroideraemia
Chromosomal rearrangements (various)
Chronic Granulomatous Disease
Citrullinaemia type 1
Classical Ehlers Danlos Syndrome
Coffin-Lowry Syndrome
Congenital Adrenal Hyperplasia (21 hydroxylase deficiency)
Congenital Fibrosis of the Extraocular Muscles
Congenital Stationary Night Blindness
Conradi-Hunermann-Happle Syndrome
Cowden syndrome (CS)/PTEN hamartoma tumour syndrome (PHTS)
Crouzon Syndrome
Cystic Fibrosis
Cystinosis
Czech dysplasia, metatarsal type also known as Progressive pseudorheumatoid dysplasia with hypoplastic toes
Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Diamond Blackfan Anaemia*
Dominant Dystrophic Epidermolysis Bullosa
Donohue Syndrome
Downs syndrome
Dravet Syndrome
Dyskeratosis congenita (Male embryos only)
Dystonia 1 Torsion Autosomal Dominant (DYT1)
Early-onset Alzheimer disease Type 3 & 4
Ectodermal dysplasia (Hypohidrotic)
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (EEC)
Ehlers-Danlos Type IV
Elastin (ELN)-related Supravalvular Aortic Stenosis
Ellis-Van Crevald Syndrome
Epilepsy, female restricted, with mental retardation (EFMR)
Facioscapulohumeral Dystrophy
Factor XIII deficiency
Familial Adenomatous polyposis coli (FAP)
Familial Hemophagocytic Lymphohistiocytosis (FHL)
Familial Paranganglioma Syndrome (PGL1)
Fanconis Anaemia A*
Fanconis Anaemia C*
Fragile X Syndrome
Fraser Syndrome
Frontotemporal Dementia
Gangliosidosis (GM1)
Gaucher Disease Type III
Gaucher's Disease (Type II)
Glutaric Acidemia (aciduria)
Glycogen Storage Disease Type 1A
Gonadal mosaicism
Greig's Cephalopolysyndactyly
Haemophilia A
Haemophilia B
Harlequin Ichthyosis
Hereditary diffuse gastric cancer
Hereditary Haemorrhagic Telangiectasia or Rendu-Osler-Weber Syndrome
Hereditary motor and sensory neuropathies
Hereditary Nonpolyposis Colorectal Cancer: Lynch Syndrome (for all subtypes)
Holt Oram Syndrome
Homozygous familial hypercholesterolaemia
Hunters Syndrome
Huntingtons Disease (Huntingtons Chorea)
Hydrocephalus
Hydroxyisobuyryl CoA Hydrolase Deficiency
Hyper IgM Syndrome - Hypogammaglobulinaemia*
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
Hypochondroplasia
Hypophosphatasia (Infantile/ Perinatal lethal)
Hypophosphatemic Rickets: X-linked dominant (Xlh)
Hypospadias (severe)
Ichthyosis
Idiopathic Arterial Calcification of Infancy
Incontinentia Pigmenti
Juvenile Retinoschisis
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS)
Krabbe Disease
L–2-Hydroxyglutaric aciduria
Leber Congenital Amaurosis
Leber's hereditary optic neuropathy / Lebers Optic atrophy
Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy)
Leigh's (subacute necrotising encephalopathy of childhood)
Lenz syndrome
Lesch Nyan Syndrome
Leukocyte Adhesion Deficiency (Type I)*
Li-Fraumeni Syndrome
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
Long QT Syndrome Types 1, 2, 3, 5 & 6

Pre-implantation Genetic Diagnose

Pre-implantation Genetic Diagnose: A technique to ensure healthy babies

Among the cases of infertility problems, I would say the most difficult cases are those where there are some genetic problems. Every case puts a different challenge in front of us as infertility experts because the root cause of infertility is different in every case. Genetic disorders place a separate challenge because they may cause serious problems in the babies that take birth after the treatment cycle. My team and I struggle hard and the couple also put their best efforts to let a conception happen. Everything go vein if there are genetic disorders in the baby. There are cases when couples face recurrent miscarriages, continuous failure of IVF retries or cases where earlier babies born with genetic disorders like ‘down syndrome’.

What is PGD?
Pre-implantation Genetic Diagnosis or PGD is a special technique used by us to do genetic profiling of the embryo or Oocyte. They are used when couples don’t want to carry forward to the next generation.

We use various Assisted Reproductive Techniques that help in making the fertilization successful. All these techniques ultimately result in a successful pregnancy. PGD helps in identifying and curing the genetic disorders in the baby before the birth. It is an appendage process to ensure birth of healthy babies.

Who are the best candidates of PGD?
I recommend PGD only in the cases where it is really required. It is neither an essential part of the entire process nor it is a generic process. The couples that get benefited by it the most are:
a) Couples with a history of multiple miscarriages or habitual miscarriages.
b) Couples with a family history of genetic cases like Thalassemia, hemophilia, single gene disorder and chromosome translocations, etc.
c) Couples where the female has to undergo multiple abnormal terminations, either forcible or automatic.
d) Couples where the male partner is facing male infertility issues.

Is ZIFT common across the globe?

Is ZIFT common across the globe?

In my opinion ZIFT is not as popular across the globe as the other methods of ART, but it is certainly very effective in some cases where there is no alternative. It is more invasive process as compared to the other processes. However, in some situations it is the only option to get success in pregnancy and I recommend it for the same reason. Statistically, only one percent of the total ART cases are contributed by ZIFT.

When ZIFT is ideal?

In case of severe problems related to the ovaries
The couple has undergone more than five cycles of IUI, i.e. Intrauterine Insemination.
The fallopian tubes of the female are unblocked
The couple is unable to conceive after continuous efforts of one year
The male partner has very low count of sperms

When ZIFT is not suitable?

There are a few scenarios when ZIFT is not effective at all

ICSI: The modus operandi

ICSI: The modus operandi

We hold the matured eggs using a special pipette. It is designed to hold the eggs in a better and organized manner.
A sharp and delicate hollow needle is used to pick up a single sperm in immobilized state.
The needle with sperm is injected to the shell of the female egg called as Zona. The sperm is injected in the inner part of the eggs called as cytoplasm. This is centre of the egg.
The eggs are monitored next day to ensure normal fertilization.

ICSI: The success story

We need to understand that there are two aspects of success when we think about IVF programs. The first one is known as fertilization rate and the other one is known as pregnancy success rate. In case of fertilization rate, we consider the process of fertilization. There are around 70 to 80 percent cases where fertilization happens after the ICSI process. The rate is significantly high on any parameter.

Pregnancy success rate is the rate of a successful pregnancy until the childbirth. IVF using ICSI method is more successful as compared to IVF using the other methods. The reason is simple, in case of ICSI, the woman is more fertile, the age is relatively less, the overall health and fitness is better and the average quality and quantity of eggs is better. Success rate is obviously higher because of these reasons. However, there are some cases of unexplained infertility that lowers the chances of successful pregnancy using ICSI.

There are some other aspects as well. IVF using ICSI is a complex procedure and I need to apply the skill and expertise to achieve success. The quality of the treatment, laboratory, equipment, and skill of my team are the other aspects that denote the success.

Gamete Intra-fallopian Tube Transfer (GIFT)

Gamete Intra-fallopian Tube Transfer

The biggest challenge for me as an infertility expert is to identify the type of infertility. There are various aspects of it and normally we go through elimination mode. An assisted reproductive procedure is used while treating the infertility so that the process of fertilization takes place easily. This procedure is the external aid to the normal natural process. GIFT is a special technique of ART where eggs and sperms are kept in the fallopian tube as soon as the egg matures.

I need to talk to the female partner and explain her about the procedure in detail because she is going to play a major role in that. Although the procedure is not very complicated, still she has to be convinced with it. GIFT is similar to an IVF (In Vitro Fertilization). The ovaries of a female are stimulated with external methods to release more than one egg so that the chances of success are increased. The male partner or donor gives the sperm for the process. The eggs and the sperms are mixed in the dish. Up to this point, GIFT and IVF are similar.

We have counseling session with the couple to explain the procedure. In case of GIFT, the eggs and sperms are transferred in the fallopian tubes and the fertilization happens there. In case of IVF, the fertilization takes place in the laboratory, outside the female body. The embryo gets the most natural environment immediately after the fertilization.

ZIFT is also same as GIFT, the only difference is, and doctors transfer the zygote or the newly fertilized eggs that are returned to the fallopian tubes instead of eggs and sperms. This process involves more complexity because there are two separate procedures to retrieve the eggs and again to insert the embryo.