Nursing care for a hospitalised infant with Edwards’ syndrome – case study

Introduction

In Poland, perinatal palliative care is provided for newborns with, among other conditions, congenital developmental defects and chromosomal aberrations. An example of such a defect is Edwards’ syndrome, a genetic developmental defect belonging to the group of autosomal chromosome numerical aberrations and associated with trisomy of chromosome 18. Trisomy 18 is associated with low survival rates. In most pregnancies with trisomy of chromosome 18, spontaneous miscarriage occurs in the embryonic or foetal period. However, if this does not occur, most children (90–95%) die before reaching the 12th month of life, and 50% die in the first week of life [1, 2]. Complications during pregnancy and childbirth associated with Edwards’ syndrome include polyhydramnios, foetal growth restriction, increased risk of premature birth, slightly increased risk of preeclampsia, and the necessity of caesarean section [3]. Perinatal palliative care involves the care of the whole family of a lethally ill child by a multidisciplinary medical team [4].
This study aimed to present the care provided by medical staff for a patient with Edwards syndrome, considering the clinical and nursing problems.
A case study method was used in this study. The case description was developed based on the analysis of medical documentation: medical and nursing observations, medical orders, and personal observation.

Case report

A male newborn, born at 35 weeks gestation, from the third pregnancy, first delivery. Born via caesarean section due to foetal circulation centralisation, with a birth weight of 1500 grams. The course of pregnancy was complicated by paranoid schizophrenia, gestational diabetes, and upper respiratory tract infection. Prenatal ultrasound of the foetus performed at 12 weeks of pregnancy revealed the following: an enlarged right atrium of the heart, subaortic ventricular septal defect, ventriculomegaly, micrognathia, receding jaw, abnormal facial profile, overlapping fingers, polyhydramnios, and foetal hypotrophy. After birth, the newborn was non-crying with decreased muscle tone and cyanotic skin coloration. Heart rate was below 100 beats per minute. Five positive-pressure breaths were given, and ventilation with FiO2 0.4 was initiated. From the 10th minute of life, the patient was on continuous positive airway pressure (CPAP) respiratory support with FiO2 0.35. The newborn was transferred to the neonatal pathology unit. The results of the blood culture were negative for any bacterial or fungal growth. The newborn remained haemodynamically stable. In the clinical examination of the child, features of dysmorphia were observed: a receding jaw, microstomia, low-set ears, a small fold of skin on the neck, absence of testes in the scrotum, long and overlapping fingers on the hands, and partial syndactyly of the second and third toes on both feet. Increased muscle tone and apnoea were observed. A loading dose of 20 mg/kg body weight i.v. of caffeine citrate was administered. Morphine was also administered at a dose of 0.3 mg/kg body weight i.m. every 4 hours. A suspicion of Edwards’ syndrome was raised, which was confirmed by comparative genomic hybridisation (aCGH). Due to the prognosis, a discussion with the parents about not escalating therapy in case of deterioration of the patient’s condition and the recommended palliative care approach was conducted. The family received psychological care.
On the 22nd day of the newborn’s life, the Ethics Committee decided to initiate palliative care and a do-not-resuscitate (DNR) protocol. The use of CPAP was discontinued. During the stay in the unit, the newborn was fed through a Flocare tube with alternating feeds of maternal milk. The feeds were well tolerated, with appropriate weight gain and normal bowel and bladder function observed. The child received neurologopaedic care, including sucking stimulation, but no significant improvement was achieved. The sucking reflex was absent, and the child was assessed as drowsy and minimally active, showing signs of irritability during attempts to breastfeed. The child underwent early stimulation therapy, rehabilitation, and the use of an orthopaedic head pillow (Head Care) to improve neck muscle range of motion and correct head deformities. The parents were present in the ward daily or every 2 days and were encouraged to bond closely with the newborn and participate in their care.
The prolonged hospitalisation of the child was not related to their medical condition but was due to awaiting a court verdict. Because both parents suffered from paranoid schizophrenia, the court restricted their parental rights. After obtaining a court ruling allowing the child to be discharged into the care of the parents, arrangements were made to cooperate with a hospice. The patient was discharged from the hospital on the 196th day of life. The parents agreed to cooperate with the home children’s hospice to provide the child with specialised and multidisciplinary palliative care at home.
The method of dealing with a child receiving palliative care is based on a holistic concept of care based on a systematic series of activities (Table 1).

Discussion

Perinatal palliative care is comprehensive; it involves supporting the pregnant woman in the period of preparation for childbirth, during childbirth, and after childbirth, as well as supporting her family, and includes providing parents with full information about their child’s disease. Many centres around the world operate perinatal palliative care (POP), which aims to provide comprehensive care for parents experiencing an unfavourable prenatal diagnosis [5, 6]. Perinatal palliative care can be provided from the moment an incurable foetal condition threatening its life is diagnosed until 28 days after birth. The National Health Fund (Narodowy Fundusz Zdrowia – NFZ) guarantees a range of services as part of perinatal palliative care. These services include free consultations with a doctor and psychologist, access to consultations with a prenatal diagnostics or genetics centre, collaboration with a stationary or home hospice, uninterrupted continuity of treatment, and provision of all information regarding the procedures in the event of death. The parents are also given the opportunity to say goodbye to their deceased child [7, 8]. Twenty-eight days after the birth, the therapeutic process continues. It may be carried out within the paediatric home hospice care framework or in an inpatient hospice setting [5].
When a child is afflicted with an incurable disease, it is not just the child who suffers, but also their parents, siblings, and the entire family. Providing support to the family struggling with a terminal illness is a fundamental issue that medical teams should prioritise immediately after caring for the patient. Lethal diseases of childhood forces family members to change the organisation of their lives, primarily causing chronic anxiety, depression, and frustration. Perinatal palliative care meets the needs of this group of parents. This is a specialised care model that provides palliative care to parents who are facing the birth of a child with a life-limiting illness. For parents who choose to continue their pregnancy after being diagnosed with a life-limiting condition, perinatal palliative care supports them in reframing their hopes and dreams for the pregnancy, preparing for the birth and death of their child, supporting their child with care providers, and adjusting to life in the child’s absence [9]. Perinatal palliative care and subsequent palliative care for a terminally ill child provide the entire family with medical, psychological, and spiritual support [5]. In the described case, an additional concurrent problem was paranoid schizophrenia present in both parents of the newborn afflicted with a lethal disease. Women with paranoid schizophrenia often struggle during pregnancy, partly because some antipsychotic medications are highly dangerous to the developing foetus, resulting in changes to treatment or reduced medication doses. In many cases, as in the one described above, parents in weakened mental states are unable to care for a newborn, especially one who is terminally ill. It is the responsibility of the healthcare system to care for the newborn, assist parents in acclimating to the situation, and guide them on future actions, including home hospice care after they regain stability and parental rights [10, 11]. In the described case, the parents received psychological support, were encouraged to learn about newborn care, and were introduced to the concept of home hospice care, to which the newborn was referred upon discharge from the hospital.
Women in particularly difficult situations, such as a diagnosis of a severe child illness during pregnancy, miscarriage, stillbirth, or the birth of a child with congenital defects, are legally guaranteed specialised care that focuses on their individual needs. This is guaranteed by the Regulation of the Minister of Health of 16 August 2018, regarding the organisational standard of perinatal care [12]. They are provided with time to adapt to the difficult situation, rapid access to psychological assistance, individually tailored lactation support, and placement in a ward separate from pregnant women and those in the postpartum period with healthy children. Furthermore, they have the right to say goodbye to the deceased child, even in the presence of close relatives. Hospital facilities do not always allow for the provision of a separate room and complete privacy, but every effort must be made to ensure that the place is as secluded and private as possible, especially in the case of the birth of a child who is known to die shortly after birth. Women are also guaranteed information about their and their child’s health status, the possibility of further assistance under palliative and hospice care, and the applicable legal status, such as burial options and related procedures.
Assistance in the case of a lethal disease in a child is extremely important in current times, especially since on 22 October 2020, the Constitutional Tribunal (Trybunał Konstytucyjny – TK) ruled that abortion cannot be performed when “prenatal tests or other medical conditions indicate a high probability of severe and irreversible impairment of the foetus or an incurable disease threatening its life” [13]. The TK assessed that performing abortions on foetuses with genetic defects is discriminatory towards the right to life of unborn children, eugenic practice, and lacking respect for human dignity. Abortion in Poland is currently permitted only when the pregnancy is a result of a criminal act or poses a threat to the life and health of the pregnant woman. In cases of irreversible foetal damage, unless the conditions described above are also present, the pregnant woman is not legally allowed to opt for abortion. In response to this, various specialised institutions and associations have emerged, especially hospices from which both the child and their relatives can seek help. The parents and the newborn described above benefited from the assistance of a perinatal hospice care, a home hospice, and a psychological counselling centre. Perinatal hospice care is provided in various models, hospital-based and community-based [6], and within each of these models various programs are implemented, including interdisciplinary coordination of care for the entire family [14, 15]. Care for a child after birth is aimed at protecting the child from persistent therapy and providing the child with palliative care. One form of withholding life-sustaining treatment is the decision not to resuscitate (DNR). There exists a subset of children who may benefit from the implementation of a DNR protocol. This decision aims to prevent suffering associated with hospitalisation, treatment, and end-of-life care, which is also significant for the patient’s parents and family as a whole [16]. The hospital-based model of perinatal hospice is a beneficial form of care for a terminally ill child and family [5], but the most natural environment for a child is their family home; therefore, home hospice support is a beneficial option for the youngest patients. Hospice facilities assist parents in reconciling with the emotionally distressing reality of a child’s death. The child can stay with their parents and the entire family in friendly, home-like conditions and additionally has access to round-the-clock essential care from professionals such as a doctor, nurse, or midwife, psychological and physiotherapy support, prescription of necessary medications, and the possibility of borrowing medical equipment free of charge [10].
In light of the TK ruling, we can expect an increasing number of births of children with lethal diseases, which necessitates the continuous development of palliative medicine. According to data presented by the Centre for Postgraduate Nursing and Midwifery Education (Centrum Kształcenia Podyplomowego Pielęgniarek i Położnych – CKPPiP), by 2022, 2599 individuals in Poland obtained the title of specialist in palliative care nursing, and mandatory teaching of palliative medicine was included in the undergraduate nursing programs in 2019. These data indicate that the lack of training for medical personnel has been a barrier to the development of this medical field so far. Moreover, a significant factor influencing the choice of specialisation training in nursing and palliative care, as well as work in this field, is the chronic psychological burden on medical staff. Having to deal daily with the pain and death of patients, as well as the need to act in constant focus, observe, and quickly assess situations, and the inability to alleviate suffering, especially psychological, leads to rapid professional burnout of the staff. The Regulation of the Minister of Health dated 16 August 2018, regarding the organisational standard of perinatal care, provides medical professionals with support in coping with stress related to working with women and their terminally ill children [12]. However, there is a lack of specialists to turn to in such situations. The constant underfunding of the healthcare system forces employers to limit expenses, making access to psychological assistance for medical personnel significantly difficult. Therefore, we must ask ourselves whether, in such circumstances, it is possible to ensure the highest quality of care for patients and continuously improve our competencies.

Conclusions

Not always does the decision to provide palliative care mean that the child will pass away during their stay in the hospital. Therefore, parents should receive appropriate tools to continue the palliative care initiated in the hospital for their child at home. Special help and support will be needed by parents who themselves struggle with health issues, including mental disorders, which can negatively impact their ability to exercise parental authority. It is also necessary to conduct continuing education courses in perinatal palliative care for medical staff and to provide real and free psychological assistance to healthcare workers.

Disclosures

1. Institutional review board statement: Not applicable.
2. Assistance with the article: None.
3. Financial support and sponsorship: None.
4. Conflicts of interest: None.

References