Edwards' and Patau's syndromes

Also called Trisomy 18, Trisomy 13, T18, T13

Serious chromosomal conditions usually found in pregnancy. The language of incompatible with life is outdated, and parents deserve better than it.

What it is

Chromosomal conditions in which there is an extra copy of chromosome 18, Edwards' syndrome, or chromosome 13, Patau's syndrome.

Both cause serious physical differences and severe learning disability. Many pregnancies end in miscarriage or stillbirth, and of babies born, most die in the first days or weeks, from heart and breathing problems.

**The phrase incompatible with life is no longer considered appropriate**, and it is worth knowing why. A minority of babies do live longer, including some who reach childhood and, rarely, adolescence, particularly with the mosaic and partial forms. Parents who were told their child could not survive, and whose child then lived for months or years, describe that language as having denied them the chance to plan and to parent.

Both conditions are screened for in the combined and quadruple antenatal tests, alongside Down's syndrome, and non-invasive prenatal testing detects them with high accuracy. Diagnosis is confirmed by amniocentesis or CVS.

Parents given a diagnosis face genuinely difficult decisions: continuing or ending the pregnancy, and, if continuing, what care the baby should receive at birth. Both paths need support without pressure.

Care after birth is individualised. Some families choose comfort-focused care; others pursue heart surgery and feeding support, and outcomes with active treatment are better than historically assumed for some babies.

Signs you might notice

Found in pregnancy through screening: a higher-chance result on the combined or quadruple test, or on non-invasive prenatal testing, confirmed by diagnostic testing.

On ultrasound: growth restriction, heart defects, brain and kidney abnormalities, clenched hands with overlapping fingers in Edwards', cleft lip and palate and extra digits in Patau's.

At birth: low birth weight, a small jaw and head, low-set ears, clenched fists, rocker-bottom feet, heart defects, breathing difficulty and feeding difficulty.

Reduced fetal movements, or a change in movements, always needs reporting at any point in pregnancy.

After birth, needing urgent input: apnoea, feeding difficulty, seizures, and signs of heart failure.

Every family should have a named contact and a written plan for what to do at home if the baby becomes unwell.

How it can affect day-to-day life

The care is fundamentally palliative and parental at once, and both parts matter. Parents describe wanting to be parents, not only patients' families: to hold, feed, dress, name, photograph and take their baby home if possible.

Perinatal palliative care teams exist and are excellent where available. Asking for one, from the point of diagnosis rather than at birth, changes the whole experience.

Decisions about intervention, heart surgery, feeding tubes, resuscitation, should be individualised and revisited, not decided once by protocol. Some families choose intensive treatment and some choose comfort care, and both are legitimate.

Memory-making, photographs, hand and foot casts, a memory box, matters enormously and needs offering rather than waiting to be asked for.

Siblings need age-appropriate honesty and inclusion.

Bereavement support should be arranged in advance, and continue long afterwards; anniversary support is often forgotten.

Recurrence risk in a future pregnancy is low for the common non-inherited forms, and genetic counselling should be offered to clarify it.

Supporting someone well

Ask for a perinatal palliative care team from the point of diagnosis, not at birth.

Ask for time and for no pressure over decisions about continuing the pregnancy.

Ask for individualised discussion about intervention rather than a blanket approach.

Do the memory-making: photographs, casts, naming, holding. Ask for help with it.

Ask for a written plan for what to do if the baby becomes unwell at home.

Include siblings honestly and age-appropriately.

Ask for bereavement support in advance, and for continued support at anniversaries.

Ask for genetic counselling about recurrence risk.

Push back on the phrase incompatible with life; ask what is actually known about this baby.

Where to get help

The fetal medicine team and a perinatal palliative care service.

Antenatal Results and Choices support parents through screening results and the decisions that follow, whichever they choose.

Sands on 0808 164 3332 and Together for Short Lives for children's palliative care.

Contact for families of disabled children.