The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

Conditions, anomalies and syndromes 

The 18-20 week fetal anomaly scan is offered as part of the NHS ‘fetal anomaly’ ultrasound screening programme and the conditions (some are quite common, others are very rare) that should be screened for as a minimum from 2010 in the NHS for England are:

• Anencephaly
• Open spina bifida
• Cleft lip - This happens when certain parts of your baby’s face and particularly the lips do not join together properly.
• Diaphragmatic hernia- This occurs when your baby’s diaphragm does not fully form. The diaphragm is a muscle that helps us breathe and it keeps the heart and lungs separate from the bowel and the rest of the organs in the abdomen.
• Gastroschisis - This is a defect or ‘hole’ in the baby’s abdominal wall to one side of the umbilical cord (usually the right side). Some of the bowel escapes through this hole and develops outside of the baby’s abdomen.
• Exomphalos Exomphalos
• Serious cardiac abnormalities
• Bilateral renal agenesis- This means that your baby’s kidneys have not developed. Sadly, babies with this condition die shortly after birth as they cannot live without kidneys.
• Lethal skeletal dysplasia - Lethal skeletal dysplasia is a problem which affects the size and shape of arms, legs, the body or sometimes the skull. The chest and lungs of these babies do not fully develop, which means that they do not survive.
• Edwards’ syndrome (Trisomy 18)
  Patau’s syndrome (Trisomy 13)

See below for a description of these conditions and other conditions, anomalies and syndromes


Anencephaly

Anencephaly is a neural tube defect of the brain and skull which occurs in the first weeks of pregnancy. The upper part of the brain and the overlying skull cap are absent although the lower part of the brain and the base of the skull do develop to some extent. Female babies are more commonly affected than males. 

This abnormality occurs in about 1:1,000 pregnancies. Its incidence is highest in those areas where spina bifida and hydrocephalus are common and, in fact, anencephaly and spina bifida can be present in the same infant. If the pregnancy does go to full term the baby is either stillborn or dies shortly after birth. Understandably most parents opt for termination of pregnancy once the diagnosis has been made. During subsequent pregnancies scanning is carried out to make sure the abnormality has not reoccurred. 

Anencephaly can be detected by ultrasound scans as early as the 13th week of the pregnancy if the baby is lying in a favourable position. Most cases are detected by the 20th week of pregnancy. If further confirmation of the diagnosis is needed amniocentesis is carried out and the level of the alpha-fetoprotein in the amniotic fluid can be measured. The level is abnormally high in this condition.

The risk of anencephaly and spina bifida occurring is 1:50 if there has been one previously affected pregnancy but the risk increases to 1:5 if there have been two previously affected pregnancies. It is therefore essential that the mother takes a high dose folic acid supplement before conception and for the first twelve weeks of any subsequent pregnancy.

Autosomal recessive genetic disorders

A recessive genetic condition is caused by a faulty pair of genes. Both genes must be faulty for a baby to have the disorder. The affected baby has inherited a faulty copy of the gene from each of his/her parents, and in most cases the parents are healthy carriers.  

For an information leaflet see website NorthWest Thames Regional Genetics Service.

Chromosome disorders

Every cell in the body normally has 23 pairs of chromosomes, formed of molecules of DNA and containing the body's genetic information. One of the 23 pairs of chromosomes is the sex chromosomes, defining the baby as male or female. Babies get one half of their chromosomes from their mothers and the other half from their fathers. Sometimes the baby has an extra chromosome for example in Down's syndrome. 

Congenital heart defects: occurs in 7 of every 1,000 pregnancies. Half of these babies will probably need some form of medical treatment or surgery. There are several different forms of heart defect. Some defects run in families, but most defects have no obvious known cause. Some may be caused by the mother's health during pregnancy, or by drugs or medication she has used.

For information about caring for a baby or child with a heart defect, see the British Heart Foundation's website and our own website www.healthtalkonline.org/heart_disease/Congenital_Heart_Disease

Consanguinity 

Consanguinity refers to a situation in which a couple are blood relatives - i.e. they share a common ancestor, for example a couple who are first cousins. In genetic counselling consanguinity is important because it increases the risk of some genetic disorders also called 'autosomal recessive disorders' such as sickle cell and thalassaemia, Tay Sachs and cystic fibrosis which are particularly common in some populations. If a couple suspects there may be a family history of an autosomal recessive disorder they should talk about it with the GP or midwife and who may refer them to the local genetics service.

For more information about consanguinity see NHS Evidence.

Cystic fibrosis

Cystic fibrosis is a genetic disease that affects a number of organs in the body (especially the lungs and pancreas) by clogging them with thick, sticky mucus.

At present there is no cure for CF. The gene, found on chromosome 7 has been identified and doctors and scientists are working to find ways of repairing or replacing it. A child that has CF has inherited two faulty genes, one from each parent. Parents of children with the syndrome may benefit from genetic counselling if they intend to have more children. 

For more information see the Cystic Fibrosis Trust website.

Encephalocoele

A hernia of the brain that is either congenital or due to trauma. 

Exomphalos, omphalocele or umbilical hernia is the protrusion of abdominal organs such as stomach and intestines into the umbilical cord. If it occurs on its own, without other abnormalities, it can be surgically corrected shortly after birth. Exomphalos is associated quite commonly with chromosome abnormalities such as Edwards' Syndrome (Trisomy 18), and sometimes with other non-chromosome syndromes. 

Folic acid 

Folic acid supplements taken when planning a pregnancy can help reduce the risk of the baby having spina bifida or other neural tube defects. It is now known that taking a folic acid supplement of 0.4mg daily at least a month before getting pregnant, and for the first 3 months of pregnancy reduces the risk for all women of having a baby with spina bifida. Women considered to be at risk should take a higher dose (4mg) prescribed by their doctor.

For more information see ASBAH Association of Spina Bifida and Hydrocephalus.

Holoprosencephaly

A malformation of the brain in which the normal division of the front of the brain into two parts (left and right hemispheres) fails to occur. In holoprosencephaly there may be a single fore brain (alobar) or only a partial division between the two hemispheres (semi lobar) or nearly complete division (lobar). Alobar holoprosencephaly is a very serious condition in which there are often other abnormalities as well, particularly facial abnormalities. Affected babies usually die shortly after birth. The least severe form of holoprosencephaly (lobar) has a much more varied outcome from severe to normal outcome. There is a strong association with chromosome abnormality, particularly Trisomy 13 (Patau's syndrome) with all types of holoprosencephaly.

Hydrocephalus

A condition in which cerebrospinal fluid (CSF), a clear liquid which is produced all the time in the cavities or ventricles inside the brain, is prevented from circulating. Though much slower than the circulation of the blood, CSF is constantly being produced, circulated and reabsorbed by the brain. If CSF is being produced but cannot circulate properly, it accumulates and causes raised pressure inside the brain. The ventricles swell and the brain tissue is stretched and squashed. The skull bones in babies and young children are not fixed together as they are in later life, and the pressure causes the head to increase in size. 

For more information see ASBAH Association of Spina Bifida and Hydrocephalus.

Microcephaly

The term microcephaly means “small head”. It usually reflects an underlying reduction in the size of the brain. Microcephaly may be present at birth (congenital) or it may develop within the first few years of life. Head size is assessed by measuring the head's maximum circumference or OFC (Occipito Frontal Circumference), and the term microcephaly is used when the head is less than that of 97-99% of the population, or below the third centile. 

The effects of microcephaly can vary - the condition may cause a delay in the child's development varying from mild to profound. Children who are severely affected by microcephaly may have cerebral palsy, epilepsy, visual/hearing impairment, feeding difficulties, autism or behavioural problems. Others who are affected may have a mild intellectual impairment.

In some children microcephaly is coupled together with other defects, such as heart or limb abnormalities, to form a recognisable syndrome (e.g. Cornelia de Lange).

For more information see The Microcephaly Group website.

Neural Tube Defects (NTD)

An abnormality where the spine has not closed over the central nervous tissue. If this 'lesion' is at the head, the condition is called anencephaly and is incompatible with life. If it occurs anywhere lower down the spine it is called spina bifida and results in varying degrees of physical and mental disability. Detailed ultrasound scanning is the way in which these abnormalities are confirmed, often following a raised AFP blood test. Most NTDs are 'open' which means that there is no skin over the lesion in the spine; about 1 in 7 cases of spina bifida are 'closed' which means that although the spine has not covered the nervous tissue there is a covering of skin. These closed conditions are less likely to be detected antenatally by the AFP test. 

Spina bifida and anencephaly account for up to 95% of all neural tube defects with equal prevalence.

There is no obvious cause for neural tube defects, though there is a hereditary factor, and supplementing the diet with folic acid around the time of conception and for the first three months has been shown to reduce the incidence. The number of Neural tube defects has declined significantly in the last 30 years and now occurs in approximately 0.8/1000 total births.

Most are detected before the birth. In the UK more than 80% of women who find they have a baby with a neural tube defect opt for a termination of pregnancy.

Some epilepsy medication increases the risk for spina bifida.

For more information see on neural tube defects see the Association for Spina Bifida and Hydrocephalus.

Recessive genes

We all 'carry' recessive (or altered) genes and for most people it doesn't matter at all or make any difference to their children. The difficulty arises if both partners happen to carry the same altered gene which means that a child of theirs will stand a 1 in 4 chance of inheriting a double dose of the faulty gene and cause a genetic disorder - there is also a 1 in 4 chance that any child of a carrier couple will carry no altered genes.

Genetic counselling is usually available at specialist fetal units and parents should either be offered or can request a consultation with a geneticist. 

Sickle cell disease and thalassaemia: these conditions affect the red blood cells. Your baby is at risk if you are from a family with an inherited trait, which is present in some ethnic groups. Both partners need to be carriers to have an affected baby.

In the UK, sickle cell is most common in people of Asian, African, Caribbean, Mediterranean or Middle Eastern decent. About 1 baby in 2000 is born with sickle cell disease in the UK . Currently there are 12,500 patients with sickle cell in the UK at present (All-Party Parliamentary Group on Sickle Cell and Thalassaemia – ‘Sickle Cell Disease and Thalassaemia: A Health Check’ July 2009)

Thalassaemia is most common in people from Cyprus and some parts of Asia. There are around 1000 beta thalassaemia major patients in the UK, with more than 214,000 people in the UK carrying the beta thalassaemia gene. (All-Party Parliamentary Group on Sickle Cell and Thalassaemia – Sickle Cell Disease and Thalassaemia: A Health Check’ July 2009))

For information about caring for a baby or child with these conditions, see the UK Thalassaemia Society and the Sickle Cell Society.

Spina bifida

Spina bifida means 'split spine'. The backbone usually provides a protective tube of bones with the nerves (spinal cord) running down the middle. In spina bifida, the bones do not close round the spinal cord and the nerves can bulge out on the unborn baby's back and become damaged. This happens very early on in pregnancy - often before the woman even knows she is pregnant. This is another neural defect. The baby may have no problems but if the spina bifida is large, it can be associated with serious problems, with a necessity for surgery and can sometimes cause hydrocephalus and long-term handicaps.

For more information see ASBAH Association of Spina Bifida and Hydrocephalus.

Ultrasound soft markers

Soft markers are changes seen at ultrasound scan (usually the 20 week scan) which are usually of no significance, but do occur more often in fetuses with congenital abnormalities, particularly chromosome abnormalities such as Down's syndrome. Most babies who have had soft markers seen will be normal but particularly if more than one is seen, amniocentesis may be offered to check the chromosomes. Examples of soft markers are choroid plexus cysts (fluid filled space in brain, common in normal fetuses), echogenic (bright) bowel, nuchal (neck) thickening, shortish femur (thigh bone). 

For a list and description of possible soft markers see the NHS Perinatal Institute website.

Syndromes

Arnold Chiari Malformation or Chiari Malformation 

Also know as 'hindbrain hernia', it manifests itself as a protrusion at the bottom of the cerebellum, an area at the back and base of the brain. There are two basic types that are most commonly seen - type 1 has no other associated cause, type 2 is associated with spina bifida. 

Dandy Walker syndrome

A congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid filled spaces around it. Key features are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the cerebellar vermis (the area between the two cerebellar hemispheres), and cyst formation near the internal base of the skull. The syndrome is frequently associated with disorders of other areas of the central nervous system including absence of the corpus callosum (the connecting area between the two cerebral hemispheres, and malformations of the heart, face, limbs, fingers and toes. Children with the syndrome may never have normal intellectual development, even when the hydrocephalus is treated early and correctly.

Parents of children with the syndrome may benefit from genetic counselling if they intend to have more children. 

For more detail see www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm.

Down's syndrome

Down's syndrome is the most common chromosomal disorder, sometimes called Trisomy 21, because it is caused by the existence of an extra chromosome 21, making three instead of a pair. Down's syndrome does not usually run in families. Although in a small percentage of cases it is because one parent carries a chromosome rearrangement. 

Babies born with Down's syndrome have some characteristic physical features. They all have learning disabilities which vary widely in severity and sometimes additional physical health problems. Babies with Down's syndrome have a higher risk of having heart and/or bowel disorders which may need surgery. Although scans may be able to tell you if a baby with Down's syndrome has additional physical complications, it can be difficult to be sure how severe these are. It is impossible to tell before birth what level of learning disability the baby will have. 

In 2008/9 there were 1844 diagnoses of Down syndrome, 64% of which were detected before birth and 92% of affected pregnancies were terminated and 8% were continued. Some of the continued pregnancies miscarry naturally, some end as still births, and approximately 6% of prenatal diagnoses are live births. In 2008/9 there were an estimated 687 Down syndrome live births (the figures quoted are from The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report).

The older a mother is the more chance she has of having a baby with the condition. For example, the chance of having a baby with Down’s syndrome is 1 in 1500 for women who are 20 years old, 1 in 900 for women who are 30 years old, and 1 in 100 for women who are 40 years old.

What does it mean to be told you're at high risk for Down's? How can I make sense of the figures?
Usually you will be told you are at high risk if the test indicates your chances of having a baby with Down's syndrome are higher than 1 in 200. If you are given a risk assessment based on nuchal scan or blood test results, it might help to compare this with the general age-related risk for other women of your age, but more important is the risk that applies to you individually whatever your age.

For example, a 30-year old woman gets a result which shows her risk of having a baby with Down's syndrome, is about 1 in 500. This means that if there were 500 people in exactly her situation, 1 woman would have an affected baby and the other 499 would not. There is a chance that she is the one, and we cannot know that without further tests, but she is much more likely not to have an affected baby. Although 1 in 500 is quite a small number, it is actually slightly higher than average for all women of her age (1 in 900) - but it is still a small risk to her. If the result were 1 in 200, this would be considered high risk and she would be offered further diagnostic tests.

Sometimes you will hear risk presented as a percentage. The following table shows two different ways of presenting the same information.

In 2008/9 there were 172 diagnoses of Patau and 495 diagnoses of Edwards syndrome, of which an estimated 18 and 37 respectively were live births. 91% of Patau and 92% of Edwards syndrome diagnoses were made before birth. A large proportion of births were still births, due to the severity of the syndromes. (The figures quoted are from The National Down Syndrome Cytogenetic Register for England and Wales: 2008/9 Annual Report).

Of those born alive, 90% of babies born with Edwards' syndrome die within their first year of life. Most babies with these abnormalities do not survive pregnancy and are miscarried. 90% of babies born with Patau's syndrome die within 3 months.

For support and information: Down's Syndrome Association; Contact a Family; SOFT (Support for Trisomy 13/18, Edwards' and Patau's syndrome) and Down's Heart Group.


Turner's syndrome affects only females. Most babies with Turner's syndrome miscarry. Those that are born do well but tend to be short and are usually infertile. The short stature can be treated with growth hormone. There is also an increased risk of having a correctable heart defect. Turner's occurs in about 1 in 2000 female births. There are varying levels of severity of Turner's syndrome and children with Turner's syndrome may have specific learning difficulties, but usually have a normal IQ.  

For support and information: Turner Syndrome Support Society.

Walker Warburg syndrome

A disorder which is classified as one of a group of rare brain disorders called collective 'lissencephaly'. The condition usually affects the back of the brain cerebellum, and there may also be abnormalities in the retina, and progressive degeneration and weakness of the voluntary muscles (congenital muscular dystrophy). Sometimes an encephalocoele [link below] may be present.

Parents of children with the syndrome may benefit from genetic counselling if they intend to have more children. 

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel. 

Diagnostic tests 

CVS (chorionic villus sampling)

CVS is carried out after 10 weeks of pregnancy. If the test is carried out earlier, there may be a risk of damaging the baby. The test removes a small sample from the tissues that go on to form the placenta (which has the same genetic make up as the baby). The sample is then tested for chromosomal disorders e.g. Down's syndrome, or in special cases some inherited conditions.

It is offered to women known to be at higher risk of having a baby with one of these disorders. Risk of miscarriage caused by CVS itself is about 1-2%.

It is an accurate test, and false results are rare. However, you may be asked to return for a repeat test, or to opt for amniocentesis, which gives fewer ambiguous results, because the sampling was not successful or the results are not clear.

The test is carried out by passing a thin needle through the abdomen (under a local anaesthetic), or a very fine tube through the vagina, and into the uterus through the cervix. The surgeon guides the instrument by watching an ultrasound screen which views inside the uterus. A small sample of tissue is taken, and results usually take 10 to 14 days (ask as different units have different result times). Because the cells of the chorionic villi have the same DNA as the embryo, any abnormality in the embryo will show up in the sample when analysed in the laboratory.

Amniocentesis

Amniocentesis, or an 'amnio', is offered from 15 - 16 weeks of pregnancy. The test removes a small amount of the amniotic fluid surrounding the baby in the uterus. The fluid is then examined in the laboratory. The test looks for Down's syndrome and other chromosomal and inherited disorders, as well as for neural tube defects such as spina bifida and anencephaly. 

Amniocentesis is offered if you and your doctor or midwife decide you have a sufficiently high risk of having a baby with an abnormality. The risk of miscarriage, caused by the amniocentesis itself, is about 1%. 

It is very accurate, but occasionally the sampling is unclear and you may be asked to come in once more for a repeat test. 

The doctor inserts a needle through your abdomen, and using ultrasound helps it go to the right place (avoiding the baby and the placenta). Some centres will do this under local anaesthetic while others will not. A sample of amniotic fluid is collected through using a syringe. The lab can then isolate skin cells from the baby and examine them for Down's syndrome. Results usually take 2-3 weeks, but limited results may be available earlier. Even though you may be having a test for Down's syndrome, the CVS or amniocentesis may by chance turn up another chromosome abnormality either more serious, or less serious. 

Some women find the procedure does not hurt, although they may find it uncomfortable, whilst others may experience pain. 

Rarely, a test called cordocentesis (fetal blood sampling) may be carried out later in pregnancy (after 18 weeks). A sample is taken from the umbilical cord, and can provide fast results, but has a miscarriage risk of 1-2%.

CVS and amniocentesis can also test for specific genetic conditions, such as sickle cell anaemia and thalassaemia, cystic fibrosis, etc. and are particularly offered for those families known to be at risk, where both parents are know to be carriers. The conditions can also be tested with fetal blood sampling, although this is now rare. 

It usually takes 10-20 days to get the full results from these tests. 

You can find out more by going to the UK Thalassaemia Society and the Sickle Cell Society. These tests are also used to test for cystic fibrosis, if you and your partner are both known to be carriers of this condition. For more information, contact the Cystic Fibrosis Trust. 

The FISH and PCR tests

Some centres offer quick results in 1-3 working days, using the FISH and PCR tests. These are molecular tests which provide a rapid diagnosis of the three most common chromosome abnormalities including Down's syndrome. These quick results have only checked for specific conditions (usually Down's syndrome and two other major chromosomal conditions). It is important to remember that even though you may be reassured that the baby has not got Down's syndrome by the FISH and PCR result, very occasionally another chromosomal condition is found later following full examination of all the chromosomes.

Cardiac scans

Detailed ultrasound scanning of the baby's heart, called a fetal cardiac scan, or a fetal echo (short for fetal echocardiogram), may take place at any point in pregnancy between 11 and 14 weeks. However, the skill and knowledge, and the equipment, to offer a cardiac scan as early as this is not yet available everywhere.  

More often, the heart is checked with a fetal echo at about 20 weeks, offered to you if an earlier test or scan has shown your baby may have a heart defect, or Down's syndrome, or if there is a history of fetal heart abnormalities in your family. You may have to visit a specialist centre for this to take place, and you may need a series of echo tests. 

The fetal echo aims to detect abnormalities in the structure of the heart, disturbances in the rhythm of the heartbeat (arrhythmia), or defects in the way the heart functions. 

Without specialist heart scanning, only about 50% of fetal heart defects are spotted. With the best and most up to date scanning, this percentage rises. If you are offered a fetal echo, ask about its accuracy, ask about rates of false positives and negatives in your unit, and about the implications and possibility of treatment, before or after the birth. At present, some treatment can be offered for arrhythmia while you are still pregnant; and surgery to correct some other abnormalities needs to be done after the birth. 

If a heart defect is detected, it may also affect the choice of birth method, (caesarean section or vaginal delivery). 

You may consider the option of terminating the pregnancy if your baby has a severe heart problem. Around 50% of parents told their baby has a severe heart defect will choose a termination. 

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

Abortion Act, 1967 & Human Fertilisation and Embryology Act 1990

The law in this country allows termination of pregnancy up to 24 weeks of gestation. Under Clause 1d of the 1990 amendment to the 1967 Abortion Act, it also allows termination up to term where there is a substantial risk that if the child was born s/he would suffer from such physical or mental abnormality as to be seriously handicapped. 

For more information about the Abortion Act, 1967 and the Human Fertilisation and Embryology Act 1990 see the British Pregnancy Advisory Service website.



August 2010

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

Termination procedures 

D & C (dilatation and curettage) 

A procedure in which the cervix is gently opened and a loop shaped instrument is inserted to scrape away the inner lining of the uterus. 

ERPC (evacuation of retained products of conception)

The procedure is as described above for D & C, but ERPC is the technically correct phrase when it is being done following a spontaneous or induced abortion. The placenta may be retained following a late termination and needs to be removed surgically. 

D & E (dilatation and evacuation) 

This procedure happens between up to about 14 weeks into the pregnancy. The cervix is gently stretched so that the doctors can use forceps, a curette and vacuum suction to remove the contents of the womb. Sometimes a pessary containing a prostaglandin will be placed in the vagina before the procedure to relax the cervix and make the termination easier. Women will usually go home 2 hours or so after the procedure.  

Suction termination

The method of termination commonly used up to 15 weeks, whereby the uterus is emptied using a suction curette and blunt forceps (if required). Above 15 weeks some clinicians will perform a D & E, though medical induction (by prostaglandin pessary followed by mifipristone) is generally preferred. 

Feticide

The procedure during which the baby's life is ended by an injection of potassium chloride into the heart or umbilical cord (obstetricians vary in their practice). Feticide usually takes place from 20 or 21 weeks and ensures that there is no possibility of the baby being born alive. Feticide will always be carried out as sensitively and as quickly as possible by an experienced obstetrician. For more information see: The Royal College of Obstetricians and Gynaecologists (RCOG) report on ‘Termination of Pregnancy for Fetal Abnormality in England, Scotland and Wales’ (May 2010).

There is no evidence to suggest that the baby feels pain during the procedure because babies under 26 weeks' gestation are not thought to be sufficiently developed anatomically or neurologically to be able to experience pain. 

What happens if the baby is born alive - would health professionals be legally obliged to resuscitate him/her?

This is a very difficult issue for health professionals, which is why the majority of obstetricians prefer to follow RCOG guidelines which state that a baby of 21 weeks' gestation or more should be given an injection of potassium chloride to stop his/her heart beat. The injection (also known as feticide) ends the baby's life so that s/he will not be born alive.  Even if parents decline the injection - though obstetricians can refuse to conduct a termination at this stage without feticide - it is unlikely that the baby will be alive after an induced termination, though hospitals (NHS and independent clinics) are required to have an emergency team on standby for this eventuality.  In practice, most obstetricians and midwives responsible for the mother's care will have talked to her several times about the termination and will do their best to follow her wishes.  For more information see The Royal College of Obstetricians and Gynaecologists (RCOG) have produced a report on ‘Termination of Pregnancy for Fetal Abnormality in England, Scotland and Wales’ (May 2010).

Selective reduction

A procedure carried out generally carried out when the pregnancy is between 10 and 12 weeks to end the life of one of a pair of twins. The embryo that dies will remain in the womb but this will not harm the live baby. When the live baby is born there is unlikely to be any body or any remains of the baby who has died. 

Mifepristone

Mifepristone works by blocking the action of progesterone - a natural hormone produced in pregnancy which keeps the fetus attached to the lining of the womb. The mifepristone blocks progesterone, so that the pregnancy detaches from the womb and dies. Mifepristone also helps the cervix or neck of the womb to begin to open. 

Mifepristone is taken orally (by mouth) and is usually followed with prostaglandins 36-48 hours later. Prostaglandins make the uterus start to contract so that labour begins. 

Prostaglandins 

Prostaglandins are used to induce a termination and labour. They help labour to begin by making the uterus contract. Gemeprost and misoprostol are prostaglandins.

Professional guidelines for late terminations

The Royal College of Obstetricians and Gynaecologists (RCOG) have produced a report on ‘Termination of Pregnancy for Fetal Abnormality in England, Scotland and Wales’ (May 2010) and within it are a number of recommendations see their website for more details.

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

PCA (Patient-controlled analgesia)

PCA is a technique whereby small doses of analgesic drugs, usually opioids, are administered (usually IV) by patients themselves. The patient has a button that can be pressed in order to release a set quantity of analgesic into the body. 

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

Post Mortems

In April 2003 the Department of Health issued a code of conduct (Families and Post Mortems - A Code of Practice) which gives detailed information about what will happen to the baby's body - including tissue samples and internal organs - if parents agree to a post mortem. The document which is available via the Department of Health website or through the post. It includes a copy of NHS post mortem form 'Consent to a hospital post mortem examination on a baby or child'.  

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.

Notifying and registering the baby's death

Registering the baby's death

All births, deaths and stillbirths must be registered in person (that is, not by telephone or letter). The person registering the death must take the certificate or letter issued by the doctor to the local registration office. Registration must normally take place before a baby can be buried or cremated.  

When a baby is born before the 24th week of pregnancy and did not breathe or show signs of life, there is no legal requirement to register any details. If parents wish the baby to have a funeral the doctor or registered midwife who attended the birth should issue a certificate or letter for the funeral director or crematorium stating that the baby was born before the legal age of viability (24 weeks) and showed no signs of life.  

If the baby was born after 24 weeks but did not breathe or show any sign of life, it is classified as a stillbirth. The doctor who was responsible for the termination will send a notification form to the Chief Medical Officer CMO, and also a Medical Certificate of Stillbirth which must be taken to the resgistrar of births and deaths. The stillbirth must be registered within 3 months and the burial or cremation can then take place.  

If the baby was born and s/he showed signs of life but subsequently died, both the birth and death need to be registered, irrespective of the gestational age of the baby, and the hospital will then issue a form to allow a burial or cremation to proceed. 

The baby's death should be registered by parents in person with the local registrar of births, marriages and deaths. It is important to register the baby's death before s/he can be buried or cremated.

For more detail see Direct gov's website.

Certificate of termination of pregnancy

A certificate of termination of pregnancy only applies to terminations before the baby has reached 24 weeks' gestation. The certificate enabled parents to have the baby buried or cremated. The form states that the baby was born before 24 weeks' gestation (the legal age of viability) and showed no signs of life. Parents should ask for another copy of this form if they want one to keep. 

August 2010.

The information in this section was produced by the Healthtalkonline team with the help of Dr Patricia Boyd, Jane Fisher and other members of the advisory panel.  

Burials and cremations

There are a number of options for the burial and cremation of babies and it should be possible for parents to talk through all these options with a bereavement counsellor, nurse, midwife, doctor or hospital chaplain.  

Guidelines issued by the Royal College of Nursing and SANDS (Stillbirth and Neonatal Death Society) recommend that the baby's remains should be dealt with as sensitively as possible and that parents should be given information about what options are available to them - not all hospitals offer the same services. Sometimes the hospital will arrange for the baby's remains to be dealt with by a local crematorium, sometimes the hospital crematorium will be used to dispose of remains.

Babies born dead before 24 weeks' gestation can be buried or cremated either by the hospital or by parents themselves.  Generally a member of hospital staff - sometimes the hospital chaplain if parents want a religious ceremony - will contact a funeral director on the parents' behalf although some parents prefer to make their own arrangements. If parents decide to leave the funeral arrangements to the hospital they will be informed in writing about the time and place of their baby's burial. There will be no charge to parents. Parents will be invited to attend and a simple, non-religious ceremony.

Parents can made their own arrangements for burial/cremation but they may have to meet some or all of the costs involved. The hospital should be able to offer information about local funeral directors and crematoriums.

For more detail see Nancy Kohner 'Pregnancy loss and the death of a baby: guidelines for professionals', The Department of Health has also issued 'Families and post mortems: a code of practice'.

There is no legal prohibition to parents taking fetal remains home to bury but there are several rules that must be observed Royal College of Nursing Sensitive Disposal of all Fetal Remains. 

For more information see: SANDS Pregnancy Loss and the Death of a Baby - Guidelines for professionals, 



Taking the baby home

Some parents may wish to take their baby home for a short while, perhaps for the day or night before the funeral. This is usually best accommodated by the funeral directors as they will be able to transport the baby appropriately. There may need to be some discussion about the possibility of the baby's body deteriorating if conditions are warm. Also, if a post mortem has been carried out, parents may need to be prepared for how the baby might look.   

August 2010.