Genetic testing, especially for parents-to-be, can feel like an overload of information and can lead to a lot of questions and uncertainty. Yet, genetic testing is an important tool to help you and your healthcare provider. Unfortunately, misleading information through social media or well-intentioned friends and family can spread myths faster than a viral cat video. We channelled our inner MythBuster to clear up some common misconceptions around reproductive health and genetics tests during the fertility and pregnancy journeys.
Myth 1: Carrier screening is only needed for couples where there is a family history of a genetic condition
Almost everyone is a carrier of one or more genetic disorders and do not even know it. People carry two sets of chromosomes, one set from mom and one from dad. For a person to be affected, the genetic condition must be present on both copies of the chromosomes. These are called recessive conditions. In most cases, the parents were unaffected themselves and likely unaware that they could pass on the genetic condition. This is why carrier screening is such a valuable tool to uncover you and your partner’s inherited genetic risk and avoid passing on serious genetic conditions to your children. Couples who carry the same genetic condition can make informed reproductive choices.
Carrier screening is NOT only needed for couples where there is a family history of a genetic condition. This myth is BUSTED!
CarrierScreen: When starting a family, you no longer have to leave your genes up to chance.
Myth 2: Non-invasive prenatal testing (NIPT) tells me everything about my baby’s health
NIPT is a safe, highly accurate screening test done from 10 weeks of pregnancy. A blood sample is taken from mom which contains some of the placenta’s DNA (which represents the baby’s DNA) for testing. NIPT is more sensitive than traditional ultrasound and maternal serum screening in detecting common chromosomal conditions like Down syndrome (Trisomy 21), Edward's syndrome (Trisomy 18), Patau syndrome (Trisomy 13) and sex chromosome abnormalities. NIPT is not limited to these, and can detect all other chromosomal abnormalities, large duplications, and deletions in the fetal DNA as well as some microdeletion syndromes, selected single gene conditions and fetal Rhesus status. However, all genetic tests have limitations, as there are over 6 000 different genetic disorders, each varying in form and severity. NIPT cannot detect conditions like autism, structural abnormalities or conditions caused by environmental factors like FASD (Fetal Alcohol Spectrum Disorder).
Non-invasive prenatal testing (NIPT) can tell me A LOT about my baby's health, just NOT EVERYTHING. This myth is BUSTED!
TriScreen NIPT: Providing peace of mind during pregnancy.
Myth 3: Miscarriages frequently result from actions related to the pregnant person
Miscarriages are often caused by factors beyond the pregnant person’s control. There are several different reasons why a miscarriage occurs. These include certain medical conditions such as diabetes, infections, or structural issues with the uterus. The biggest culprit for pregnancy loss, however, is chromosomal abnormalities in the fetus. These often occur by chance and cannot be prevented. When a DNA error causes a chromosomal abnormality, the fetus may not develop properly, often resulting in a non-viable pregnancy and subsequent miscarriage. Products of conception screening (POCScreen) examines the tissue from a miscarriage to identify the presence of these chromosomal abnormalities providing answers, closure, and an action plan for your doctor to assist in future pregnancies.
Miscarriages do NOT result from actions related to the pregnant person. This myth is BUSTED!
POCScreen: Turning loss into insight!
Myth 4: Pre-implantation genetic testing (PGT) done on embryo’s created through IVF can tell you everything about your future child
Preimplantation Genetic Testing (PGT) helps identify the healthiest embryos during your In Vitro Fertilisation (IVF) journey by screening embryos for chromosomal abnormalities before transfer. If there are any chromosomal abnormalities in the embryo, it will most likely not result in a viable pregnancy. PGT can also identify the sex of your embryos. There are three main types of PGT testing: PGT-A, which screens for aneuploidies (chromosomal abnormalities), PGT-SR, which detects structural rearrangements, and PGT-M, which tests for specific monogenic or single-gene disorders like Cystic Fribrosis. Like NIPT, PGT has its limitations, and it cannot detect all genetic abnormalities, or any environmental or structural conditions.
Pre-implantation genetic testing (PGT) done on embryo’s created through IVF CANNOT tell you everything about your future child, but can help guide selecting embryo’s for transfer and increase IVF success. This myth is BUSTED!
PGT: Giving your IVF journey the best start
Myth 5: There is no need for prenatal screening if pre-implantation genetic testing (PGT) was done on embryo’s created through IVF
Preimplantation Genetic Testing (PGT) during IVF allows the selection of embryos without chromosomal abnormalities that improve the chances of a successful pregnancy. However, even after the transfer of embryos with the correct amount of chromosome material and confirmation of pregnancy, prenatal screening remains essential. PGT is performed on embryos on day five of development, but much can change between this stage and a positive pregnancy test. Therefore, every pregnancy, including those achieved through IVF, should be managed with the same care as any other pregnancy, including all recommended screening tests such as NIPT.
There is ALWAYS a need for prenatal screening in every pregnancy, irrespective of how the pregnancy was conceived.
This myth is BUSTED!
PGT: Screen smart. Implant strong.
Myth 5: Endometrial health testing is necessary for everyone doing IVF
During IVF and subsequent embryo transfer, an embryo needs an optimal environment, to implant and grow. If the embryo is transferred at the wrong time during IVF, even a healthy embryo, may also fail to implant. Endometrial receptivity testing identifies the best day in your cycle for embryo transfer by determining your unique window of implantation (WOI). This is the short period when the endometrium is most receptive to receive an embryo. During IVF, the WOI typically occurs five days after starting progesterone. While most transfers are scheduled for this time, 1 in 3 women have a shifted WOI that occurs earlier or later. Testing allows your IVF team to plan the transfer with greater precision increasing IVF success.
The health of your endometrial microbiome also matters. Endometrial microbiome testing can detect imbalances of microbes that can cause inflammation, resulting in an environment that hinders implantation of your embryo. Endometrial health testing is not required for all IVF patients, but it can be a valuable tool, especially for couples who have experienced repeated implantation failures, miscarriages, or unsuccessful IVF cycles.
Endometrial health testing is a VALUABLE ADDITION for everyone doing IVF.
This myth is BUSTED!
Endometrial health testing: Optimise your IVF journey
Myth 6: Stem cell banking is expensive and not worth it
If parents are thinking about what they can do to protect, preserve and defend the health of their children in their lifetime, one of the most actionable and easy ways to access that is to store their baby’s stem cells at birth. Stem cells can be used in the treatment of over 80 blood-related diseases such as leukaemia’s, lymphomas, anaemias, metabolic disorders and various immune disorders.
Harvesting cord blood at birth is a quick and painless post-delivery procedure which has the potential to provide invaluable medical benefits later in life. When you compare the cost of banking with the Netcells stem cell bank to the peace of mind and the potential future health benefits it provides, it becomes clear that it’s an investment in your family’s long-term wellbeing and not just another expense. Your baby’s chance in finding a bone marrow match are 1 in 100 000, and can decrease to as low as 1 in 400 000 chance of finding a match for mixed race and ethnic minorities. Storing your baby’s stem cells at birth will give immediate access to stem cell therapy as a future treatment option.
Stem cell banking is AFFORDABLE and COMPLETELY worth it.
This myth is BUSTED!
Netcells Stem cell banking: Plan for your baby’s future healthcare needs with Netcells.
Myth 7: I won’t know my baby’s gender until the second trimester
Finding out your baby’s gender can be such an exciting milestone, but the wait can feel endless. While certain detailed scans can detect the sex of your baby earlier depending on the position of the baby, most ultrasounds only confirm it around 16 weeks. From choosing nursery colours to deciding on names, knowing earlier can make planning so much easier.
With the MiniMi early fetal sex test, you can discover your baby’s gender during the first trimester, at as early as 10 weeks of pregnancy. This simple test requires only a blood sample from the expectant mother. The baby’s DNA is extracted from the mother’s blood and analysed to check for the presence of a Y chromosome. If a Y chromosome is found, the baby is a boy. If not, the baby is a girl.
I WILL know my baby’s gender by the second trimester.
This myth is BUSTED!
MiniMi: No need to rely on old wives' tales for baby gender predictions.
Myth 8: Next Biosciences is the best partner to support you on your reproductive journey
At the forefront of reproductive healthcare, Next Biosciences supports patients through a diverse range of reproductive testing solutions. Whether your concerns are linked to family history, infertility, maternal age, or the genetic health of your baby, we are here to help.
This myth is APPROVED!
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