When a screening result, ultrasound finding or diagnosis is not what you expected, you may suddenly be dealing with new information, more appointments and questions you had not anticipated.
People respond in different ways. You may feel shocked or overwhelmed, or you may not. You may want answers straight away, need time before taking in more information, or feel differently from one day to the next. Your response may also be shaped by what you already know or have experienced of disability, illness or genetic conditions.
There is no one way you are supposed to feel, and you do not have to make sense of everything in one appointment.
Was this a screening result, an ultrasound finding or a diagnosis?
If you are not sure, ask the team to explain it in plain language. A higher-chance screening result is not the same as a diagnosis.
Even when a diagnosis has been made, it may not be possible to predict exactly how a condition will affect an individual baby.
Ask which findings are specific to this pregnancy, what is known more generally about the condition, and what cannot yet be predicted.
Another scan, specialist review or diagnostic test may provide more information, but sometimes uncertainty remains. You can ask what further testing could clarify and what it may still not be able to tell you.
If you are given information about possible outcomes, you can also ask how relevant it is to your baby’s particular findings.
NIPT is a screening test, not a diagnosis. If the result shows a higher chance of a condition, you should usually be offered specialist information and the option of diagnostic testing.
NIPT does not screen for every genetic condition and does not replace pregnancy ultrasounds. Different providers offer different panels, so ask exactly what the test includes.
NIPT is not currently covered by Medicare and is usually paid for privately. Ask about the full cost before testing.
Medical and genetic information can help explain the finding, possible health needs, treatment or care, and what remains uncertain. It may not give you a complete picture of what living with a condition can look like.
If a condition has been identified, you can ask for current, balanced information and, if it would be useful to you, connection with a condition-specific organisation or people with lived experience.
Hearing from people and families who live with a condition can add perspectives about everyday life, the range of experiences, practical realities, support and community. Their experiences cannot predict your baby’s future, and you can choose whether, when and how much lived-experience information you want.
Ask what the next appointment or test is, when you should expect the next contact and whether anything needs to happen within a particular timeframe.
If decisions are ahead, ask what can wait, what is time-sensitive, whether further information may become available, and whether making one decision could affect the options available later.
If several teams or services are involved, ask who is responsible for the next step and who you can contact between appointments.
If you receive different information or interpretations, you can ask what is agreed, what remains uncertain and why views may differ. You can also ask whether another specialist review or second opinion may be useful and whether timing affects this.
Ask for copies of the result or report, the next-step plan and important information in writing.
It can be difficult to remember complex information after unexpected news, and you may take in different things when you return to the information later.
You can ask to speak with a genetic counsellor, social worker or another member of your maternity or specialist team.
A partner, family member, friend or other support person may also be able to join appointments with you. People close to you may respond differently or need different information and support themselves.
If you would like emotional or mental health support, your care team can help connect you with an appropriate service.
You should not have to rely on a child, relative or friend to interpret complex medical information.
Through the Unexpected is an Australian Health Promotion Charity focused on improving the experience, psychosocial health and wellbeing of parents who receive unexpected news about their baby’s health, development or genetics during pregnancy.
Its information resources are written by health and allied health professionals and people with lived experience. They cover receiving unexpected news, living with uncertainty, decision-making, continuing a pregnancy after diagnosis, termination for medical reasons (TFMR), mental health and wellbeing, and support for partners, family and friends.
These resources can sit alongside information and support from your own maternity, fetal medicine or genetics team.
Through the Unexpected: information and support after unexpected prenatal news →
A diagnosis can tell you something important about your baby’s health or development. It may not tell you exactly how your child will be affected or what everyday life will look like.
Your healthcare team can help you understand the clinical information, what is known about your baby’s individual findings, what care or treatment may be relevant and what remains uncertain.
Condition-specific organisations and people with lived experience can add another kind of knowledge. This might include what living with the condition can look like across childhood and adulthood, the diversity of experiences within the condition, practical realities for individuals and families, and the support and community that may be available.
Neither clinical information nor other people’s experiences can tell you exactly what your baby’s future will be. Looking at different kinds of information can help you build a fuller picture.
Some people want to connect with others straight away. Some want information without personal stories. Others prefer to wait. You can choose what feels useful to you.
Find a condition-specific organisation through Genetic Alliance Australia →
