Board-certified Maternal-Fetal Medicine subspecialist. Assistant Professor at UConn School of Medicine. MFM Attending at Connecticut Children's Fetal Care Center. SMFM Reproductive Health Committee.
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Elizabeth Morgan MD; Prenatal Diagnosis Decision Aid
Questions to bring to your care team
Generated based on your situation and what matters most to you.
You have received information that was unexpected. You do not have to decide today.
About this guide
This is a general decision framework for patients who have received an unexpected prenatal finding. It covers the landscape of options, the right questions to ask, and how to find your footing when everything feels uncertain.
Condition-specific guides; for diagnoses like spina bifida, congenital heart defects, and others; are being developed and added over time. If you would like a guide on a specific diagnosis, request it at the bottom of this page.
This guide covers your options honestly, without steering you toward any of them. It also offers language to use with your care team and with the people in your life.
This takes about 10 minutes. At the end you will have a printable question list and suggested language for your appointments and conversations. Nothing is stored or transmitted.
Not a substitute for clinical care or genetic counseling.
Step 1 of 4; Your Situation
Tell me a little about what you received.
These answers shape which questions are generated for you.
What type of finding did you receive?
How far along are you?
Is this the first time you are hearing about a concern with this pregnancy?
Have you had genetic counseling yet?
How are you feeling emotionally right now as you work through this?
Step 2 of 4; Options and Context
What the options are; and what each one involves.
Select any paths you want to explore further; they will shape your question list. Expand any card to read what it involves. Tap any highlighted term for a definition.
Before any decisions
The most important thing right now
Many patients receive an unexpected diagnosis and feel immediate pressure to make decisions about what to do next. Much of that pressure can be self-generated. Very few findings require decisions within days and in fact many of them require further testing and follow up for confirmation.
It is hard to remember, but if you have received a screening result, you do not yet have a diagnosis. Screening identifies pregnancies at higher risk; it does not tell you what your baby has, or how severely. Diagnostic testing is what provides the information you actually need to make a decision, though in some cases you may want to forego diagnostic testing due to risks and that is okay too.
Screening result
A test that estimates the probability of a condition; not a confirmation. Cell-free DNA (NIPT), first trimester combined screen, and anatomy ultrasound findings are all screening. A positive or abnormal screen means higher risk, not a confirmed diagnosis. Many screen-positive pregnancies are ultimately unaffected.
Diagnostic testing
Tests that provide definitive genetic information. Amniocentesis (typically after 15 weeks) and CVS (10 to 13 weeks) both sample fetal cells directly. Results take approximately 2 weeks for standard chromosomal analysis; some faster options exist. These tests carry a small procedural risk of pregnancy loss; approximately 0.1 to 0.3% at experienced centers.
On time
In most situations, taking two to four weeks to get a definitive diagnosis before deciding anything is not only possible but advisable. The information will not disappear. The options will still be there. A better-informed decision is almost always a better decision. Sometimes due to state restrictions on abortion, or constraints around referrals and testing, more time may not be possible. This guide is still meant to help you explore your options.
Your options
What families in this situation do
All options are presented without judgment. There is no right answer that applies to every family or every diagnosis. Select any you want to explore.
On parenting a child with a diagnosis
Many families receive a prenatal diagnosis and are told; or shown through the framing of the conversation; that the road ahead will be defined by difficulty. That framing is incomplete. Parents of children with Down syndrome, spina bifida, Turner syndrome, 22q11 deletion (DiGeorge syndrome), Klinefelter syndrome, limb differences, and many other conditions consistently report meaningful, connected, and joyful family lives.
Families who have been there are often the most honest and most useful voice in this moment. Many of them have organizations, communities, and resources specifically designed to connect with parents who have just received the same diagnosis you are sitting with right now.
You do not have to figure out what this life looks like alone, and you do not have to figure it out today.
National Down Syndrome Society
Community, resources, and a new diagnosis program specifically for families who have just received a prenatal Down syndrome diagnosis.
It can be hard to know what to say in the appointment room, and equally hard to know what to say to the people you love. Here are phrases that other families have found useful.
When you need more time in the appointment
"I need a moment before we talk about next steps. Can you give me the information and let me sit with it?"
When you want the full range of outcomes
"Can you tell me the best case, worst case, and most likely outcome for a baby with this finding?"
When a provider seems to be steering you
"I want to understand all of my options before we discuss what you recommend. Can we go through each one?"
When you are tired of being told you are sorry for
"We are still taking in this diagnosis. What we need most right now is information, not condolences."
When telling family or friends
"We received some unexpected news about the baby. We are still learning what it means. We are not ready to answer a lot of questions yet, but we wanted you to know."
When a well-meaning person says the wrong thing
"We know you mean well. Right now what helps most is knowing you are there, not having to explain everything."
Step 3 of 4; What Matters
Clarifying what feels most true.
These questions shape your personalized question list. There are no right answers.
Step 4 of 4; Your Questions
Questions to bring to your care team.
Generated from your situation, your selected options, and what matters most to you. Add your own below. Print or save as PDF.
Your own questions
What else do you need to know? These will appear on your printed list.
Support beyond the decision
Navigating a complex pregnancy is one of the most emotionally demanding experiences a person can go through. If you are struggling beyond the decision itself — with fear, grief, isolation, or weight that feels unmanageable — support is available.
Postpartum Support International:postpartum.net — helpline, provider directory, pregnancy and loss support
National Maternal Mental Health Hotline: 1-833-943-5746 — 24/7, free, confidential
A diagnostic procedure in which a small sample of amniotic fluid is taken from the uterus to test for chromosomal or genetic conditions. Usually performed after 15 weeks. Results take approximately 2 weeks; an initial karyotype may come back in up to three days.
CVS (Chorionic Villus Sampling)
A diagnostic procedure similar to amniocentesis but performed earlier, typically 10 to 13 weeks. Samples cells from the placenta. Can provide chromosomal results faster than amniocentesis.
Cell-free DNA / NIPT
A screening test; not a diagnostic test. A positive result means higher risk, not a confirmed diagnosis. Many screen-positive pregnancies are ultimately unaffected, though with more common diagnoses and with more risk factors such as age over 35, the chance a positive test is a true positive is higher.
Prognosis
A medical estimate of how a condition is likely to develop; a probability statement based on population data, not a prediction of any individual outcome. For many fetal diagnoses, the range of outcomes is wide.
Variant of Uncertain Significance (VUS)
A genetic finding whose clinical significance is not yet established; neither confirmed as disease-causing nor confirmed as benign. VUS results create uncertainty without resolution, and their interpretation may change as data accumulates.
TFMR
Termination for medical reasons. You may have heard this term as some families and clinicians use it for abortion after a fetal diagnosis. ACOG uses the clinical term abortion care throughout its guidance and TFMR is no longer used as abortion care should be judgment free for all pregnant persons.
Perinatal palliative care
A specialized approach for families continuing a pregnancy with a life-limiting fetal diagnosis. Focus is on comfort, dignity, memory-making, and family support; not aggressive intervention.
Understanding genetic tests; a way to think about it
Think of the genome as a book. Chromosomes are the chapters. A karyotype can tell you if an entire chapter is missing, duplicated, or badly rearranged; it sees large structural changes. A microarray reads more closely and can find missing or duplicated paragraphs within a chapter; smaller deletions and duplications a karyotype would miss. Whole Exome Sequencing (WES) goes further and looks for misspelled words within those paragraphs; mutations in the protein-coding parts of genes. Whole Genome Sequencing (WGS) reads every single letter in the entire book; the highest resolution available. Each level of detail finds things the previous one cannot. And some things; even with the most detailed testing available; cannot yet be detected or explained.
Karyotype
A test that looks at the number and large structure of chromosomes; the chapters. It reliably detects extra or missing chromosomes (like trisomy 21) and large rearrangements, but misses smaller changes. Think of it as checking whether all the chapters are present and roughly the right length.
Microarray
A more detailed genetic test that detects small chromosomal deletions or duplications; missing or extra paragraphs within a chapter. Often recommended when a karyotype is normal but a structural anomaly is present on ultrasound. Microarray finds changes too small for a karyotype to see but does not read individual gene variants.
WES — Whole Exome Sequencing
Sequences all protein-coding regions of the genome; the words in the paragraphs. Used when standard chromosomal testing is normal but a genetic cause is still suspected. Increasingly offered prenatally when ultrasound findings are unexplained by karyotype and microarray. Turnaround time is longer; results can take 4 to 6 weeks or more.
WGS — Whole Genome Sequencing
Sequences the entire genome; every letter of the book. The highest resolution genetic test available and increasingly accessible prenatally. Can detect variants missed by all other methods. Interpretation is complex and may yield variants of uncertain significance. Not yet standard of care prenatally but available at specialized centers.
NIPT / Cell-free DNA; what it tests now
NIPT panels have expanded significantly beyond the original common trisomies (21, 18, 13). Many labs now offer screening for sex chromosome conditions, microdeletions such as 22q11.2 (DiGeorge syndrome), 1p36 deletion, Angelman syndrome, Prader-Willi syndrome, and Cri-du-chat syndrome. The sensitivity and specificity vary by condition and by lab. Always ask specifically what your panel includes; not all NIPT tests are the same, and a negative result on a limited panel does not rule out conditions not included.
A note on the limits of testing: even with the most detailed genetic testing available; karyotype, microarray, WES, and WGS; some causes of fetal anomalies remain undetected or unexplained. A normal result does not guarantee a normal outcome, and an abnormal result does not always predict the full picture. Genetic counseling is the most important resource for interpreting what your specific results mean for your specific situation.
Request a condition-specific guide
This is a general framework. Specific guides for individual diagnoses; Down syndrome, congenital heart defects, spina bifida, and others; are being developed. Tell us what would help you most.
Request received. If you included your email, you will hear from us when the guide is ready.