SICKLE CELL AND INFERTILITY (PART 2)

Dr Kemi Ailoje

Last week we talked about the effect of Sickle Cell Disease (SCD) on male and female fertility and impact on mother and child, this week we will be looking at how to manage fertility challenges in patients with the disease.

Management options for couples with SCD however, depend solely on the clinical symptoms they present with. Most women with SCD can get pregnant on their own while some other may require some form of Assisted Conception or Assisted Reproductive Technologies which ranges from:

Ovulation Induction and Timed Intercourse:

This may be the option of treatment in SCD couple with good quality sperm in males but menstrual irregularities and anovulation in the female. Most women with SCD often experience irregular menses, with ample evidence showing that they seldom ovulate. Early presentation and diagnosis is very important as advanced maternal age may further depreciate the quality and quantity of the eggs making pregnancy more difficult to achieve.

Decision to induce ovulation is usually based on the results of medical history, physical examination, transvaginal ultrasound scan, blood tests and semen analysis. Ovulation induction involves the use of certain oral tablets and sometimes injectable aimed at stimulating the growth and development of eggs on the ovary. Serial scans are performed to assess follicular growth, and then your physician guides you through when to have natural coitus.

Intra Uterine Insemination (IUI)

This is a fertility treatment that involves placing sperm inside a woman’s uterus (Womb). The goal of IUI is to increase the number of sperm that reach the fallopian tube and subsequently increase the changes of fertilization. The most common indication for IUI in SCD male is low sperm count or decreased sperm motility. It can also be selected as a treatment option for unexplained infertility, ejaculation dysfunction and cervical mucus hostility. Women scheduled for this procedure may be given ovulation enhancing medication, with serial scans done to monitor follicular growth. It is usually done around the time of ovulation.

In Vitro Fertilization (IVF)

IVF simply means sperm fertilizing egg outside the body; this is one of the last resorts in the management of infertility.

Indications for IVF in SCD Couples:

Tubal disease: In women with blocked fallopian tubes, IVF has largely replaced surgery as the treatment of choice.

Male factor: Male factor infertility in SCD males, may result from impotence, relative primary gonadal failure (hypogonadism), erectile dysfunction(ED) as a result of priapism, delayed or impaired sexual development and sperm abnormalities. They may often present with low sperm count, poor motility and even abnormal sperm forms.

IVF with intracytoplasmic sperm injection (ICSI): This is a procedure in which a sperm cell is injected directly into the egg cell. This procedure can be used when sperm numbers are very low, it is possible to do ICSI with sperm aspirated directly from the testis (TESA) in cases where there is no sperm in the ejaculate due to obstruction along the ejaculatory duct (tube through which sperm flow to exit at the penis).

Other related medical conditions in SCD patients requiring IVF include Ovulatory dysfunction, unexplained infertility and Endometriosis (Where cells that should usually line the womb migrate to other parts of the body).

For IVF to be successful it typically requires a healthy egg, sperm that can fertilize, and a womb that can carry a pregnancy. But in patients where this is not the case, it is now possible to screen embryos formed from sperm and eggs to check for genetic or chromosomal abnormalities to determine which is healthy to be put back in the woman’s womb using Pre-implantation Genetic Testing (PGT)

PGT is indicated in couple who:

Have a family history of inherited disease

Want to use gender selection to prevent a gender-linked disease

Already have a child with an incurable disease and need compatible cells from second healthy child to cure the first, resulting in a “saviour sibling” that matches the sick child in HLP type.

Pre-implantation Genetic Testing can be (PGT-A,-M, or –SR).

PGT-A means Pre-implantation Genetic Testing for Aneuploidies (checking for the presence of an abnormal number of chromosomes in a cell). It was formally known as PGS (Pre-implantation Genetic Screening). It is the process of screening embryo from IVF procedure for chromosomal abnormalities before transfer with the goal of increasing the likelihood of achieving a successful pregnancy. It has been shown to:

Reduce the time it takes to get pregnant.

Enable confident single embryo transfer.

Increase implantation rate.

Reduce miscarriage rates.

Increase ongoing pregnancy rate and live birth rates.

PGT-M means Pre-implantation Genetic Testing for Monogenic/Single defect. It was formally known as PGD (per-implantation Genetic Diagnosis). It is a genetic test designed to reduce the risk of having a child with an inherited condition. It is performed prior to pregnancy to greatly reduce the risk of having an affected child in couples who are at increased risk of passing on a specific genetic condition. PGT-M is appropriate for couple with risk for having babies with Sickle Cell Disease. This procedure can be used to analyse the genotype of each embryos generated through IVF. This analysis classifies the embryos into their respective genotypes of AS, SS, AA etc.

Normal embryos with AA are then selected and transferred back to the womb so babies born by this process though from two AS parents will be with an AA genotype………………………………….. TO BE CONTINUED