Antenatal testing for fetal abnormalities allows parents and their health care team to plan appropriately for the pregnancy, birth and beyond, or consider the option of termination. While some abnormalities can be treated in utero or after birth, many cannot, and each year in England and Wales at least 2500 terminations for fetal abnormality take place (Department of Health (DH), 2012). About a third of these are for chromosomal abnormalities, of which trisomy 21 (Down's syndrome) is the most common (Royal College of Obstetricians and Gynaecologists (RCOG), 2010); over 90% of women given an antenatal diagnosis of this condition choose to terminate the pregnancy (National Down's Syndrome Cytogenetic Register (NDSCR), 2011). Structural abnormalities detected by ultrasonography, most commonly affecting the nervous or musculoskeletal systems, represent another group of fetal anomalies, and the prognosis of these conditions depends on the severity of the anomaly and the organ system involved. As would be expected, women are more likely to terminate pregnancies affected by more severe conditions (Grevengood et al, 1994).
Midwives' feelings about termination of pregnancy for fetal abnormality (TOPFA) may be complex and varied. However, as screening is offered to all women, and the majority diagnosed with a major abnormality choose to terminate the pregnancy, management of these women is an important part of a midwife's role. The care of these patients is challenging because midwives and other clinicians need to be particularly attentive to a range of clinical, psychological, and emotional issues, to ensure patients feel supported and receive the best possible care in a non-judgemental way (Bourgingon, 1999).
Current screening practice in the UK
All pregnant women booking before 20 weeks in England, Scotland and Wales are offered antenatal screening tests for fetal anomalies. The Fetal Anomaly Screening Programme (FASP) offers women the option of the combined screening test between 11+2 and 14+1 weeks or the quadruple screening test for women presenting after this time up until 20 weeks, to screen for Down's syndrome. When the results of these tests indicate that a woman has an increased chance of having a baby with Down's syndrome, invasive testing is offered to confirm the diagnosis. Invasive testing by chorionic villus sampling (CVS) or amniocentesis both carry a risk of miscarriage (around 1%) and therefore women can use the results of their screening test to decide whether it is appropriate for them to risk miscarriage in order to confirm a diagnosis. In the future, these tests may be replaced in part or wholly by non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA found in the mother's blood. Although NIPT for aneuploidy is not currently offered by the NHS, it is widely available privately from 10 weeks gestation and currently two large evaluation studies are underway in NHS hospitals.
Later in pregnancy, between 18+0 and 20+6 weeks, a more detailed ultrasound examination for structural fetal anomalies is offered. This detects many abnormalities of the nervous, cardiovascular, respiratory, musculoskeletal, and renal systems.
Managing abnormal results
When high-risk screening or abnormal diagnostic results are reported, the woman should be counselled by a health professional with training in delivering difficult news and explaining the results. This will usually be a midwife with an interest in antenatal screening, a fetal medicine specialist, an obstetrician, or a genetic counsellor. Discussion will include the options of further testing, continuing the pregnancy, or having a termination.
When appropriate, a second opinion should be sought. An abnormal finding on ultrasound may need to be confirmed by a senior sonographer (RCOG, 2010). In order for parents to make informed decisions about continuing or ending the pregnancy, they may also need to meet with specialists with experience of the particular condition identified. For example, if a cardiac abnormality is found a paediatric cardiologist may be able to give the parents insight into the available treatments and prognosis. Parents may wish to make contact with families who have experience of a particular condition, and condition-specific support organisations, such as the Down's Syndrome Association, or SHINE (for spina bifida and hydrocephalus) can provide information which may help decision-making. In addition, Antenatal Results and Choices (ARC) provides non-directive support and information to parents throughout the antenatal screening and testing process. Because of the involvement of different clinicians and advocates, midwives have an essential role in the coordination of care, and provide continuity at what is an extremely difficult time for women and their partners.
Deciding to end the pregnancy
A woman's decision to terminate a pregnancy after a diagnosis of abnormality may be influenced by several factors, including the likely quality of life of the child if born, the effect of this on both the child and their family, the type and severity of the abnormality, their age and ethnicity, as well as the views of their health care providers (Shaffer et al, 2006; Korenromp et al, 2007; Choi et al, 2012).
The Abortion Act 1967 allows termination in the UK (excluding Northern Ireland) only under specific circumstances, known as ‘grounds’. The particular ground relevant to fetal abnormality is ground E, which states that a termination may take place at any gestation if two doctors agree that ‘there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped’ (RCOG, 2010). However, the law does not specifically state which conditions should be considered to cause serious handicap, nor does it define what is a substantial risk; in cases where doctors do not feel the abnormality meets these criteria, a woman with a diagnosis of fetal anomaly may still be considered eligible for a termination under other grounds of the Abortion Act.
Choosing between medical and surgical termination
While NIPT has the potential to facilitate the diagnosis of some abnormalities before the end of the first trimester, current screening and diagnostic technology means that most women will not receive a diagnosis of fetal anomaly until the second trimester. Access to termination, particularly surgical termination, at this gestation is limited in the UK. This was demonstrated by a survey of 351 women who underwent TOPFA, which found that 78% had a medical termination; 88% of this group said they had this method because it was the only one offered (Fisher et al, 2013). Both medical and surgical termination are safe and effective methods for terminating a pregnancy in the second trimester, but women's experiences of each method are very different, and as a result RCOG states that women should be given a choice of method after appropriate counselling (RCOG, 2010; RCOG, 2011). The ability to choose method of termination for fetal abnormality is valued by women (Kerns et al 2011). Health professionals should consider how best to offer women choice, liaison with the independent sector, where surgical termination is more widely available, may be one option.
Midwife's role in helping women choose method of TOPFA
The midwife can play a key role in helping a woman decide which method of termination is right for her. Discussion around options for TOPFA may begin even before a woman has entered the screening pathway. National guidance on the consent process for fetal anomaly screening, clearly states that health professionals should have sufficient knowledge and understanding of the implications of screening tests to include the offer and choice of continuing or terminating the pregnancy for serious fetal anomaly, and be able to describe these to women (NHS FASP, 2011). This falls within a midwife's remit and discussion about TOPFA at an early stage in the screening pathway may assist a woman's decision about whether screening is the right option for her.
Further along the screening pathway, where a woman is considering diagnostic testing, awareness of the options available to her regarding termination should abnormality be confirmed, may influence choice of diagnostic test. For example, amniocentesis, which carries a lower miscarriage risk than an earlier CVS, may be a preferable option for women with the knowledge that diagnosis at a later gestation does not exclude the option of a surgical termination. It will be important that a midwife explores these options with women to help ensure fully informed decision making.
Once abnormality is diagnosed and the decision to end the pregnancy has been made, awareness of the factors that may influence women's decision making over method of TOPFA, can help midwives best support women through this process. Attitude to abortion, religious beliefs and emotional coping style were all themes shown to exert influence over women's decision making between medical and surgical procedures in the second trimester (Kerns et al, 2001).
Equally important is the introduction of other factors that may not have been considered. For example, whether genetic testing or post mortem, if relevant, would be possible with a specific method of TOPFA. Some women may want to think about where the termination takes place. Some may prefer a venue away from their local maternity unit. Others will be more comfortable with a hospital setting. Exploring whether the woman wishes to see the baby afterwards and the options for momentoes and photographs may also influence choice of method. Many of these factors are discussed in greater detail in the following sections. Introducing these options in a sensitive manner is especially important as choice of method could ultimately affect how women recover and cope with grief after ending a desired pregnancy (Kerns et al, 2011).
Medical termination
Medical termination in the second trimester is an inpatient process that involves the use of uterotonic medications to induce labour. A doctor is required to complete the legal paperwork and prescribe medications, but care is typically managed by a midwife or gynaecology nurse. Misoprostol, a prostaglandin analogue also used for labour induction later in pregnancy and management of postpartum haemorrhage, is the agent of choice and given in repeat doses until the process is complete. Mifepristone, a progesterone receptor antagonist that enhances the effects of misoprostol, is given on an outpatient basis 36–48 hours before misoprostol. When the woman returns to be admitted for her termination, the RCOG recommends an initial dose of 800 μg of misoprostol vaginally, followed by misoprostol 400 μg orally or vaginally, 3-hourly, to a maximum of four further doses (RCOG, 2011). Efficacy should be balanced with side-effects such as fever and gastrointestinal symptoms, and alternative regimens and routes of administration can be used. If higher doses of misoprostol are given, the interval should be increased. Pre-medication with mifepristone shortens the duration of the induction process; with this combined regimen, 95% of terminations are complete within 24 hours of misoprostol administration (Society of Family Planning (SFP), 2011). In one cohort study, the median time to fetal expulsion was 6.25 hours, with a range of 0–67.5 hours. The process took longer in nulliparous women, older women and women at a later gestational age (Ashok et al, 2004). Compared with misoprostol alone, the combined regimen results in a reduction of up to 50% in time to termination. Although gemeprost, another prostaglandin analogue, has similar outcomes to misoprostol, it is more expensive and requires refrigeration. If prostaglandins are unavailable or contraindicated, an alternative is high-dose intravenous oxytocin (SFP, 2011). When a medical induction termination takes place after 21 weeks and 6 days gestation, the RCOG recommends performing feticide before the induction. This typically involves administering an injection into the fetal heart which causes immediate fetal demise. This ensures there are no signs of life at delivery, as this would contradict the intention of the termination and could be upsetting for the patient and staff (RCOG, 2011).
Complications of medical termination include retained placenta, haemorrhage requiring transfusion (<1%), febrile morbidity or infection (2.6%), and failed termination (Perry et al, 2013). Rarely, uterine rupture can occur with second trimester medical termination, particularly in women with a history of caesarean section or other uterine surgery, and this can be life-threatening. A systematic review estimated the risk in women with prior caesarean birth as 0.28% (95% CI 0.08–1%), compared to 0.04% (95% CI 0.01–0.20%) in women without prior caesarean (Lohr et al, 2014).
Surgical termination
Dilation and evacuation (D&E) is a surgical procedure, usually carried out in an outpatient/day-surgery basis. D&E involves emptying the uterus through the dilated cervix, typically under general anaesthesia or sedation, and takes approximately 10–15 minutes. Specialised forceps are used to extract the fetus and placenta. Adequate cervical dilation, typically 1–2 cm, is needed to permit insertion of the instruments into the uterus and the extraction of fetal parts. This is most easily achieved by preoperative preparation with medications that soften and/or dilate the cervix. Mifepristone and misoprostol are the most widely used agents. Osmotic dilators—thin, sterile rods which are placed in the cervical canal and slowly expand over hours-to-days—can also be used and 3 are the most effective agents available, but require a speculum examination for insertion.
Complications of D&E include cervical 2 laceration (0–1%), uterine perforation (0.25–0.4%), haemorrhage (0.85–2.1%), infection, and retained products of conception (Perry and Harwood, 2013). Because of the amount of artificial dilation required for D&E, some health professionals may be concerned that the procedure affects the integrity of the cervix and leads to an increase in the rate of miscarriage or preterm birth in subsequent pregnancies, but several studies have shown that it does not affect later obstetric outcomes (Kalish et al, 2002; Chasen et al, 2005; Jackson et al, 2007). D&E is generally not performed for pregnancies of greater than 24 weeks gestation and the small number of women needing a termination after this time would undergo medical induction. D&E would not be appropriate if an intact fetus is required for a full post-mortem examination (see below).
Midwives have an important role to play in helping patients decide between medical and surgical termination in the setting of fetal abnormality. While they have broadly comparable outcomes, DH data show that surgical termination is associated with a lower complication rate than medical termination (DH, 2012), and other studies of abortion in cases not related to TOPFA show it to be not only safer but more effective, cheaper, quicker, preferred by most women, and associated with better emotional outcomes than medical termination in the second trimester (Lyus, 2013). However, the difference in complications is largely due to the much higher incidence of retained tissue after medical termination. Rates of this complication vary widely between studies because clinicians differ in how long they are willing to wait for the placenta to pass spontaneously before intervening. A retrospective study of 220 women found that 22% of 126 women having a second trimester medical termination had retained tissue versus only 2% of 94 women having D&E (P=0.01), and median length of stay was shorter in the surgical group (5.7 hours versus 28.4 hours, P<0.001) (Whitley 2011).
A randomised controlled trial of women having a termination for reasons not related to fetal abnormality concluded that this group finds surgical termination more acceptable than medical termination: 100% of women in the surgical group said they would opt for the same procedure again versus 53% in the medical group (P≤0.001). None of the women in the surgical group found the procedure worse than expected, compared with 53% of women in the medical induction group who did (P=0.001). Women in the medical induction group experienced more bleeding, more pain on the day of the procedure and more days of pain, and had poorer scores on the Impact of Event scale (a measure of distress) 2 weeks after the procedure. Of the 107 women who declined to participate in the study, 67% expressed a preference for surgery (Kelly et all, 2010). A trial in the US comparing the two methods found their patients to have similarly strong preferences for surgical termination (Grimes et al, 2004).
While the women in these studies were not having a termination because of fetal abnormality, other research suggests that the benefits and preferences are the similar in this group, and surgical termination in this setting has been described in the literature for many years. In one retrospective cohort study of women having a termination for fetal abnormality or in utero fetal death, 32 of 136 women who underwent medical termination (24%) experienced one or more complications compared with 9 of 263 women (3%) who underwent D&E. The chance of a complication was eight times higher in the medical induction group (adjusted risk ratio 8.5; 95% CI 3.7–19.8) compared with D&E (Bryant et al, 2011). A qualitative study looked at themes emerging from interviews with 21 women who had undergone TOPFA, or an abortion for maternal complications in pregnancy. A key theme was the value women place on the ability to choose the method of termination, and 13 (62%) chose surgical termination while 8 (38%) chose medical termination (Kerns et al, 2012). In the survey conducted by ARC, 60% of women undergoing TOPFA who were given a choice chose surgical termination (Fisher et al, 2013). It is therefore of critical importance that women are able to choose the method which best suits their individual coping style.
Sensitive management of fetal tissue
The Royal College of Nursing (RCN) has produced guidance on the management of fetal tissue after a miscarriage or termination before 24 weeks gestation (RCN, 2007). The wishes of women and their partners should be observed as much as possible and this should include making arrangements for cremation or burial, and creating mementoes of the pregnancy, such as photos or handprints (Bourgignon et al, 1999). Medical termination results in delivery of an intact fetus, which may be important when parents choose to have a post mortem examination of the baby (discussed below), or when they wish to see and hold their baby after the termination. However, midwives should avoid encouraging women and their partners to see the baby based on their own particular beliefs, as this is a matter of personal choice and there is no evidence it is of benefit (Sloan et al, 2008). Clinicians should discuss both the issue of post mortem and seeing the baby with the woman and her partner to help them decide on a method of termination.
Post mortem examination
While fetal post mortem is unlikely to be of any benefit to the parents in cases of chromosomal abnormality confirmed by invasive testing, in some cases of structural anomaly this examination may yield further information, which will affect patient counselling about the risk of recurrence in future pregnancies. However, there is no consensus regarding which abnormalities indicate post mortem. Recent data from experienced fetal medicine scanning units suggest that this examination provides new information in only 16% of cases structural abnormality (Vogt et al, 2013). It is therefore essential that patients are given a realistic appraisal of how much information a post mortem is likely to add in their particular case if this is a key reason for choosing medical induction. Genetic testing is possible on fetal tissue after either medical or surgical termination.
Aftercare
Women experience a range of emotions after TOPFA (Asplin et al, 2013). For most women it is a major life event which can cause short -and long-term emotional and psychological distress, comparable to that reported by women experiencing pregnancy loss during the second trimester or later (Steinberg, 2011). Korenromp and colleagues (2009) examined psychological outcomes of women undergoing TOPFA for an extended follow-up period. Four months after termination 46% of women showed post-traumatic stress symptoms, decreasing to 20.5% at 16 months. For depression, these figures were 28 and 13%, respectively. The most important predictor of long-term problems was the outcome at 4 months; other predictors were lack of partner support, having religious beliefs, advanced gestational age, and significant doubt at the time of the termination. Despite these findings, only 2.7% of women expressed strong feelings of regret, reflecting the complex nature of this decision. The vast majority of women in this study underwent medical termination; surgery was not routinely offered.
A clear plan for follow-up is therefore important, but has been reported by many women to be lacking (RCOG, 2010). Diligent coordination of care and good communication are necessary, particularly between NHS-based services and independent sector providers. All women should be offered a follow-up appointment with an obstetrician to discuss results of tests such as post mortem, and future pregnancy planning. It is essential that care providers are aware of patients' psychological and emotional needs. While comparative data are not available, the studies described above do suggest that women who have undergone TOPFA have a greater need for psychological support than women who have undergone termination for other reasons. Follow-up by a community midwife or primary care provider should be offered and may provide an opportunity to identify those patients who need ongoing psychological support and arrange referral for counselling when appropriate.
Conclusion
Fetal abnormality is a complex issue affecting a significant minority of pregnant women. When major abnormalities are confirmed the majority of women choose to terminate the pregnancy. In such cases, the evidence demonstrates that both medical and surgical procedures are safe options up until 24 weeks gestation and that women should be afforded the opportunity to have choice over the method of termination. However, there is evidence to suggest that in some areas choice is limited, particularly regarding late surgical procedures. Where services are currently are unable to offer second trimester surgical termination, then services should consider how best to enable this option in the future.
Some midwives, including those working within screening or fetal medicine, already play a central role in the care of women after prenatal diagnosis, providing information to enable informed choice on all issues surrounding termination. This may include supporting women where possible to access their preferred method of termination, as well as offering ongoing emotional support and coordinating care. It is essential that they are equipped to support women and advise about all available options.
All midwives, with support from specialist colleagues, should have an awareness of all the options available to women after a diagnosis of fetal abnormality and how to refer women for specialist advice and support where necessary. Midwives are uniquely placed to help ensure women receive high quality individualised care at a distressing time.