Triploidy is usually missed
Most tests count DNA fragments from each chromosome, which cannot reveal triploidy, a whole extra set of chromosomes and one of the more common changes in miscarriage.
Sometimes, yes. If a miscarriage has been confirmed and the pregnancy is still in the womb, a blood-based genetic test may be possible. Placental DNA in your blood falls once the pregnancy passes or is removed, so the sample is best taken before tablets or surgery.
Testing is your choice, and a result cannot be guaranteed. If you are considering it, talk to us as early as you can, ideally before treatment starts. Call 999 if you have heavy bleeding, severe pain or feel faint.
Key points
The science
During pregnancy, the placenta releases tiny fragments of its DNA into your bloodstream, the same principle behind NIPT in ongoing pregnancies. After a miscarriage is diagnosed, these fragments can be counted to look for an extra or missing chromosome, the most common known reason an early pregnancy stops developing.
The DNA keeps arriving only while placental tissue is in the womb. In a Danish study of 1,463 women from the Copenhagen Pregnancy Loss Study, levels were highest while the tissue was still in place and dropped significantly from about 12 hours after it passed, with more samples failing to give a result as time went on.
A missed miscarriage can stay in the womb for days or weeks, but nobody can predict when it will begin to pass. In one UK early pregnancy unit, about 3 in 10 missed miscarriages managed without treatment had completed by day 7, and nearly 6 in 10 by day 14. Tablets or a procedure close the window sooner.
Even with good timing, the placental share of DNA (the fetal fraction) is often small after a miscarriage. In the Danish research, higher levels of the pregnancy hormone hCG went with a better chance of a clear result.
Before the sample
First, the miscarriage itself has to be confirmed. Under NICE guidance, if an internal scan shows an embryo of 7 mm or more with no heartbeat, or a sac of 25 mm or more with no embryo, a second opinion, a repeat scan at least 7 days later, or both, are needed; below those sizes, a repeat scan at least 7 days later, and sometimes more than one, is always needed. See no heartbeat on a scan.
A scan shortly before the sample then checks that the pregnancy is in the womb and that tissue is still there. This mirrors the research: the largest study only included pregnancies seen in the womb on ultrasound, including an empty sac, and left out pregnancies of unknown location, where an ectopic pregnancy has not been ruled out, and molar pregnancies.
The scan can also show a twin pregnancy or a vanished twin, whose DNA can confuse the result. No guideline sets an exact limit on the gap between scan and sample; the shorter it is, the more confident everyone can be that the tissue is still in place.
Around your treatment
NICE describes three ways to manage a confirmed miscarriage. Which you choose is for you and your early pregnancy unit to decide; this table only shows where a blood sample fits best.
| Option (NICE NG126) | What it involves | Best time for the blood sample | Can tissue be tested too? |
|---|---|---|---|
| Waiting for a natural miscarriage | In most cases the first option offered, for 7 to 14 days, unless there is a higher risk of heavy bleeding, a previous traumatic experience or infection; you can choose another option if waiting is not right for you | As soon as possible after diagnosis, as the pregnancy can start to pass at any time | Sometimes, if tissue is collected and kept fresh; see tissue testing |
| Tablets (medical management) | For a missed miscarriage, 200 mg mifepristone by mouth, then 800 micrograms misoprostol 48 hours later | Ideally before the first tablet, while the tissue is still in place | Sometimes, if tissue is collected and kept fresh |
| Manual vacuum aspiration (MVA) | Gentle suction under local anaesthetic in a clinic | Before the procedure, on the day or the days before | Often, as tissue is collected during the procedure; ask in advance for a fresh sample to be kept |
| Surgery under general anaesthetic | A procedure in theatre while you are asleep (sometimes called an ERPC, or a D&C) | Before the procedure | As for MVA; tissue placed in formalin usually cannot be tested |
Your treatment
It should not need to. The sample is an ordinary blood draw, so you can choose waiting, tablets or a procedure for the reasons that matter to you. Tell your early pregnancy unit you are planning a test so the timing fits. If your unit advises treatment soon, for example because of a higher risk of bleeding or infection, your safety comes first.
The evidence
These figures come from studies comparing the blood test with direct testing of the pregnancy tissue. They describe groups of women, not what will happen for you.
Limitations
Blood-based testing after a miscarriage is not part of standard NHS care, and UK research, including studies funded by Tommy's, is still evaluating it. Treat it as a screening-type result rather than a final diagnosis.
Most tests count DNA fragments from each chromosome, which cannot reveal triploidy, a whole extra set of chromosomes and one of the more common changes in miscarriage.
Balanced rearrangements, most single-gene conditions, two copies of a chromosome from one parent and small changes below the test's resolution are not seen; one US study could not detect changes under 7 Mb and may have missed a mix of normal and abnormal cells (mosaicism).
Occasionally the placenta carries a chromosome change that the pregnancy does not, or the reverse (confined placental mosaicism), so the result can differ from tissue testing.
Most DNA in your blood is your own. A chromosome variation of your own, a low-level mix of cells with one X chromosome, a vanished twin or, very rarely, an undiagnosed cancer can cause unexpected results that need genetics review.
If too little placental DNA is present, there is no answer. In the meta-analysis about 4 in 100 samples gave no result overall, but rates varied between studies, up to 27 in 100 in one early study; in the Copenhagen study, 11 in 100 tests gave no clear result.
The meta-analysis estimated that, where about 6 in 10 miscarriages carry a chromosome change, about 93 in 100 abnormal blood results would be confirmed in the tissue, but after a normal result about 28 in 100 pregnancies would still carry one.
If the pregnancy passes first
This happens often, and it does not mean nothing can be done. What is possible depends on what happened and on your history.
Testing the tissue may be possible, usually with a rapid test for the commonest chromosome changes plus a chromosomal microarray. It needs to be fresh, not in formalin, and sent promptly. See pregnancy tissue testing.
Placental DNA does not vanish at once: in the Danish study it was still measurable in some women up to 3 days later, but levels and reliability fell, especially after 12 hours, and about 3 in 10 samples gave no result by day 3. Call us the same day to discuss whether testing is still worthwhile.
NHS genetic testing is not usually offered at this stage, and checking parents' chromosomes is not routine. If there is another loss, testing that pregnancy is usually the most informative step (NHS testing guidance says this for recurrent miscarriage), so it can help to plan for a next pregnancy.
Investigations look for causes such as antiphospholipid syndrome, thyroid problems and the shape of the womb, and a parental chromosome test may be offered. See recurrent miscarriage.
Practical steps
If you decide on a blood-based test, a short conversation with your unit helps everything fit together.
That you are planning a blood-based genetic test, and roughly when the sample will be taken.
Whether you would also like some pregnancy tissue kept fresh for genetic testing, rather than all of it going into formalin.
Ask for a copy of your scan report, with the measurements.
Who to contact if bleeding starts before your sample or your treatment.
Making a decision
Being asked to think about genetic testing within days of hearing that a pregnancy has ended can feel like too much. Some people want every possible answer; others want to focus on the next few days. Both are understandable, and there is no right choice.
It may help to ask what you would do with a result. For some people, learning that a chromosome change was the likely cause can ease the feeling that they did something wrong, and a chromosomal cause is linked with a better outlook in the next pregnancy than a miscarriage with normal chromosomes.
Support is available whatever you decide: Miscarriage UK's helpline is 0303 003 6464, and Tommy's midwives can be reached on 0800 0147 800.
NHS and private care
Your NHS early pregnancy unit diagnoses and manages miscarriage free of charge and should stay at the centre of your care. In the UK, testing of pregnancy tissue is usually offered from the third miscarriage onwards and after a miscarriage from 14 weeks, or sooner when there are signs pointing to a chromosome condition. Blood-based testing is not part of standard NHS care.
Our genetic counsellors can explain, by video, whether a blood-based test might suit your situation and how it compares with tissue testing. If you are unsure about the diagnosis itself, our fetal medicine team offers a second-opinion scan in London. Because the window is short, call 020 3687 2939 as early as you can.
How we can help
The sooner you speak to someone, the more options stay open. Our clinics are in the City of London and West London, and genetic counselling is by video, so you do not need to live nearby.
Online, 30 minutes
A video appointment with a registered genetic counsellor about blood-based and tissue testing, timing around your treatment, and what a result could mean.
Specialist review
An appointment with Dr Harry Leitch, Consultant in Clinical Genetics, for complex questions such as an unexpected result or a family history of chromosome conditions.
If the diagnosis is uncertain
An independent scan with Dr Fred Ushakov before you decide about treatment or testing. If you are not sure it is the right scan for you, call us first.
It depends on how the miscarriage is being managed. While you wait for a natural miscarriage, it can start at any time. With tablets, the sample is best taken before the first tablet, and with a procedure, before it starts on the day. It is better to ask early and decide against testing than to run out of time; a conversation does not commit you to anything.
Possibly. Under the NICE regimen, misoprostol is given 48 hours after mifepristone unless the pregnancy has already passed, so the tissue may still be in the womb in between. However, the main studies recruited women at the time of diagnosis, and how mifepristone affects the result has not been well studied. Call us promptly, and do not change the timing of your medicines without speaking to your unit.
In principle, yes, as long as it is taken before the procedure; in one US study, blood was drawn before the tissue was surgically removed. Agree the timing with your unit so the sample does not hold up your procedure, and if you would like the tissue tested as well, ask in advance for a fresh sample to be set aside.
The largest study included pregnancies with an empty sac (an anembryonic pregnancy), so testing can be attempted, although a clear result cannot be promised. Our guide to the empty pregnancy sac explains the diagnosis.
Bleeding can mean the miscarriage is beginning, but tissue may still be in the womb, and only a scan can show this. Call 999 if the bleeding is heavy (soaking a period pad soon after putting it on), you have severe tummy or shoulder pain, or you feel faint or dizzy. Otherwise, contact your early pregnancy unit, or NHS 111 if you cannot reach them.
Some people choose both. Testing the tissue directly is the reference method and, depending on the technique, can detect triploidy and smaller changes that a blood test misses. But tissue cannot always be collected, so a blood sample taken before treatment keeps a second route open. A genetic counsellor can help you decide whether one or both makes sense.
We wrote this page to explain the general principles of genetic testing around the time of a miscarriage. It cannot replace advice from the clinicians who know your history and your scan findings. If you have heavy bleeding, severe pain, a high temperature or feel faint, contact your early pregnancy unit or NHS 111 straight away, or call 999 in an emergency.
Contact
The figures and clinical statements on this page are drawn from the sources below. Guidance evolves — always discuss your individual circumstances with a clinician.
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