If you’re an expectant mother who’s been putting off genetic screening, then here’s your cue to take action. The fact is, genetic screenings are incredibly important, as they can help determine whether your child has any genetic defects. The results from these tests allow your doctors – as well as yourself – to quickly take measures to help prevent conditions from getting worse.
Detecting birth defects in prenatal stages and post-birth is a two-step process. The first step is the screening itself, and the second step is getting an accurate diagnosis.
The First Step: Prenatal Genetic Screening
Even if you don’t have any genetic disorders yourself, your child still has a chance of getting one due to a variety of factors that are at play during pregnancy. Your family might have a history of genetic disorders that you might be unaware of, or you might get affected by an illness during pregnancy that could cause a mutation.
Because of this, it is important that you don’t skip out on the prenatal genetic screening that your doctor recommends. Screening uses a sample of your blood or the amniotic fluid to check the baby’s DNA and identify whether any of the pairs of chromosomes have any defects.
If the results of your screening suggest that your baby might have a genetic defect, things then move on to phase two – that is, the diagnostic testing. While genetic screenings can only give a general idea of your baby’s genetic health, they don’t provide an accurate and reliable diagnosis.
However, prenatal diagnostic testing helps determine exactly which conditions your baby might have so that your doctors can intervene and prevent the condition from developing any further.
What Does The Prenatal Diagnostic Testing Process Entail?
The prenatal diagnostic testing procedure can help detect small chromosomal changes and defects, open neural tubes, and other genetic conditions based on a parents’ medical history. The results of testing are highly detailed and accurate, and can help doctors decide on a treatment plan.
Diagnostic samples are collected in the same way as they would be collected for screening. Doctors typically insert a needle into the body to collect amniotic fluid from the womb. Doctors can also obtain placenta tissue samples through the abdominal wall or the cervix.
These samples can be thoroughly tested for chromosomal anomalies and provide a definitive diagnosis. With this information in hand, you can make informed decisions around treatment.
Diagnostic Testing For Toddlers
Even if testing wasn’t done during pregnancy, it’s never too late to undergo testing later in life. Consulting a doctor or genetic counselor can provide the answers you need.
Diagnostic testing for toddlers and young children can help control the development of genetic disorders over time. Some conditions tend to develop later in life, so regular genetic screenings can be helpful as a child grows.
If you’ve been putting off genetic testing, it’s important to consider your options. Several diseases can be controlled or treated so it’s essential to consult your doctor so that you can make sure you ensure the best – both for yourself and for your baby.
