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What you might not expect when you’re expecting: How genetic testing empowers
informed decisions in reproductive healthcare moments that matter the most.

Next Biosciences is a pioneering biotechnology company in South Africa, offering comprehensive support through every unpredictable part of the journey to parenthood.
Many people assume that getting pregnant will be simple, however a current review on the prevalence of infertility tells a different story. Infertility is now considered a global public health concern, impacting 10- 15% of couples attempting to conceive. *1

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Secondary infertility (the inability to conceive or carry a pregnancy to term, after a previous successful pregnancy) affects an estimated 11% of women. Moreover, approximately one in four pregnancies may end in miscarriage. *5

Infertility can cause high levels of stress, which contributes to anxiety, depression, strained relationships and even challenges to personal identity, long after the initial period of childlessness has passed.

Unfortunately, couples frequently face these challenges alone without the awareness of underlying biological causality, or knowledge of potential healthcare solutions.

Next Biosciences bridges this gap with innovative, solution-focused genetic and fertility testing for couples to improve their odds of achieving a successful pregnancy through innovative solution-driven tests. Common fertility myths could be dispelled through the evaluation of your reproductive health.

There’s a common misconception that fertility issues are mostly age-related. However, the aforementioned review reveals that fertility rates do not significantly differ between women under or over 35. *1

While lifestyle factors like stress, weight, and smoking could impact fertility, the statistics on pregnancy loss before 20 weeks’ gestation suggest that miscarriage in early pregnancy is often the result of unexpected genetic abnormalities. *3

In the past, genetics may have been regarded as an uncontrollable variable of infertility, beyond the reach of medical intervention. Next Biosciences equips individuals with tools to address inherited conditions or genetic factors that might in the way of a healthy pregnancy.

What are the next steps after an infertility diagnosis or pregnancy loss?

Not all causes of infertility can be reversed but many couples are able to achieve a healthy pregnancy through understanding the probable causality and fertility treatment options.

Investigative steps to examine the potential reasons for problems conceiving and pregnancy loss include the following:

* Endometrial Receptivity Testing:
This test identifies the best time to transfer an embryo by measuring the expression of hormone-regulating genes which determine when the endometrium will be most receptive to embryo implantation. *4

* Endometrial Microbiome Testing:
This test evaluates the bacterial composition of the uterine lining to determine the presence of microorganisms that are known to positively or negatively impact fertility.

* Preimplantation Genetic Testing:
This testing evaluates embryos created by IVF for chromosomal abnormalities, to assist fertility doctors in selecting embryos with the correct amount of chromosome material for transfer.

* POC Screen:
This test analysis the tissue from a miscarriage to determine whether the loss was caused by chromosomal abnormalities.

Using science to empower reproductive decision-making Infertility is not the only obstacle in the context of family planning. Some couples face concerns about hereditary diseases and the risk of passing these onto their children.

Others only consider genetic testing after falling pregnant. Fortunately, investigative screening can be undertaken at many different stages of the reproductive journey:

* Carrier Screen:
This test allows couples to pre-determine their ‘carrier status’ for certain genetic conditions and the associated probability of passing on these genetic conditions to their children.

* Tri Screen NIPT:
This test analyses cell-free fetal DNA in the mother’s blood, which is more accurate than ultrasound in the detection of fetal chromosomal abnormalities in early pregnancy.
Tri Screen can be performed from 10 weeks’ gestation, and although it is not a diagnostic test, it can be used as a tool to establish the need for further diagnostic testing like amniocentesis.
The test can also be used to detect the Fetal RhD gene to determine the risk for mother baby Rhesus incompatibility. If a mother and baby have different Rh types, there may be risks to the baby in current and future pregnancies. This empowers informed decisions about prenatal care.

* Netcells stem cell banking:
Umbilical cord stem cell banking is done at the birth of the baby for potential future medical use. If parents are thinking about how they can protect their child’s future health, one of the most actionable and easy ways to access that is to store their baby’s stem cells at birth.

While the application of reproductive screening tests cannot guarantee a pregnancy or a healthy baby, it can offer a deeper understanding of the biological mechanisms behind infertility, miscarriage and chromosomal abnormalities. It can also provide guidance into the best management options for fertility and prenatal health.

Next Biosciences is your trusted partner along your reproductive journey and for all patients who may face unexpected reproductive challenges.

References:
1. https://bmjopen.bmj.com/content/bmjopen/12/3/e057132.full.pdf
2. https://share.upmc.com/2021/10/secondary-infertility/
3. https://www.medicalnewstoday.com/articles/322634
4. Ohara et al, Clinical relevance of a newly developed endometrial receptivity test
for patients with recurrent implantation failure in Japan. Reprod Med Biol, 2022
5. Wapner et al. (2012) NEJM 367 (23): 2175-2184. 2 Jeve et all. J Hum Reprod Sci.
2014 Jul-Sep; 7(3): 159–16

Mothers and Daughters: How do we adapt to engage in fertility conversations?

 

February is dedicated as the Reproductive Health Month (RHM) South Africa and stakeholders within the fertility industry offered free online webinars throughout the month. The presentations covered an array of topics ranging from medical causes of fertility issues, procedures, alternative forms of assisted reproductive technology (ART) such as surrogacy and egg/sperm donation, testimonial evidence from couples on their journeys, and the role that a healthy lifestyle plays in combating some fertility issues.

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In the past two years, South Africa has experienced an increased awareness around infertility, thanks to the significant concerted efforts and milestone initiatives taken by the various non-profit organisations and other stakeholders. Currently, there is an ongoing campaign to get medical aid schemes to include fertility treatment within their benefit plans, resulting in the first positive outcome with Discovery Health. This is commendable, given that one in six couples is affected by infertility.

A critical component missing from the discussions is the mother and daughter conversations, either when a couple is diagnosed with infertility, or during fertility treatments, which, may entail time-consuming and expensive medical interventions.

If we consider the role played by mothers and aunts during puberty and the early formative years of a young woman, the engagements centred on abstinence from sexual behaviours that could lead to contracting HIV and Aids and prevention against pregnancy. Family structures and communities, through various platforms, became the conduit as a source of disseminating information. The advent of community-based health care facilities and engagements amongst peers has made it a lot easier for young women to source information and seek professional help without family consent.

In the African context, one of the traditions and cultural practices carried out is the rite of passage to womanhood. This is largely driven by the participant’s family cultural practices, traditions, values, and belief systems. In the Xhosa community, this is referred to as ‘intonjana’, and Prof. Nobuntu Penxa- Matholeni, competently elaborates on the practices of this indigenous rite of passage in the article; Kwantonjane: The indigenous rites of passage amongst amaXhosa in relation to prejudiced spaces”. Prof Velaphi Mkhize of Umsamo African Institute has written extensively on “umhlonyane” a rite of passage to womanhood practiced in the Zulu culture.

Fast forward to pre-marital counselling, the woman’s family carries the responsibility of advising their daughter on how to conduct herself, exercise patience and resilience within the marriage. The keyword being, “ukubekezela” (to persevere).

However, there is less focus and emphasis afforded during pre-marital counselling on how issues of fertility should be addressed, should they arise. The fertility journey is long and arduous, paved with many uncertainties, risks, pitfalls, heartaches, emotional and mental stress that places a huge financial burden on the couple. Navigating this unknown territory for a woman in marriage can be daunting, especially if avenues of free engagement and support are non-existent. Equally, approaching her mother or aunts is not an automatic choice, as, by default, she is regarded as belonging to her husband’s family. In the context of most African cultures, when a couple faces challenges conceiving, the narrative perpetuated is centred on the woman. Our patriarchal society defaults to a solution that seeks to hide the stigma attached to childlessness. Whilst practices such as adoption within the family and isithembu (polygamy) may have historically been acceptable practices that worked, those are not necessarily the correct solutions to the 21st-century couple.

There is no doubt that daughters prefer to first have the option of approaching their mothers or maternal aunts when dealing with fertility issues, within the confines of a safe and trusted family

structure. The challenge lies in the lack of open dialogue, resulting in mothers adopting the silent approach. Equally, unless a daughter has a very close relationship with her mother or maternal aunts, this issue may be very daunting to venture into.

Several concerning questions require some consideration if we are to change society’s narrative perpetuated on fertility issues. As daughters, what is the role that we would like to see our mothers play in counselling and supporting us when we embark on the fertility journey? How can mothers or maternal aunts create confidential and conducive environments of engagement? What about decisions relating to the use of donor sperm and artificial insemination? These are some of the pertinent issues which Africans decry as being culturally and morally unacceptable. Unconventional and uncomfortable to digest as they may be, these are realities of the 21st century. Trained and experienced professional psychologists and fertility counsellors play a pivotal role in assisting daughters and couples deal with their diagnoses and the emotional roller coaster ride that follows during treatment. Simply put, the fertility journey is synonymous with grief for the loss of hopes and deferred maternal and paternal dreams.

For couples or daughters currently undergoing fertility treatment, how many mothers or mothers-in-law understand what the treatments entail, the emotional and financial burden that accompanies the fertility journey? Whilst it is the prerogative of a daughter or couple to decide whether to disclose such sensitive issues, it is equally imperative for mothers and maternal aunts to be courageous, understanding, and to have empathy, beyond just financial support.

Spiritual counselling and traditional methods may have a place in society, but their effectiveness is subjective, depending on the alignment with the beliefs and values of the affected. When I consult a medical practitioner, my greatest wish is for my mother’s support, care and love, because the sheer mental and emotional strength required to survive the fertility journey is beyond comprehension.

Patience Nontuthuzelo Luxomo 

Property Specialist, Founder @infertilitybooks, and passionate about fertility issues