Midwife-led care in newborns with Edwards syndrome

INTRODUCTION

Edwards syndrome is a genetic syndrome resulting from aneuploidy of chromosome 18, specifically trisomy of chromosome 18, i.e. the presence of an extra copy of this chromosome. The extra genetic material results in a number of phenotypic features characteristic of the syndrome [1-3]. Edwards syndrome is associated with a very high rate of infant mortality in the first year of life. The early mortality of those affected by the syndrome is due to the presence of severe birth defects such as central nervous system anomalies and heart defects [3-5]. The phenotypic picture of Ed-wards syndrome includes anomalies on the part of the sensory organs, limb malformations such as foot deformity and supernumerary toes, horseshoe kidneys, hydrocephalus or agenesis of the corpus callosum. In older children who manage to live more than 12 months, significant or profound psychomotor and intellectual disabilities are always manifested [6, 7].
In terms of incidence, after Down syndrome, it is the second most common chromosomal aberration found in humans. The frequency of live births of newborns with this syndrome is between 1 in 3600 and 1 in 10,000 births [1, 2, 8]. Most cases (94%) of Edwards syndrome have complete trisomy of chromosome 18, which is characterised by the presence of 3 copies of this chromosome in each cell. Less common is the mosaic form (< 5%), and in this form there are both cells with a normal number of chromosome 18 and cells with 3 copies. The least frequently diagnosed is the partial form (< 2%), which manifests in only a segment of the long arm of chromosome 18 being present with 3 copies [1, 6, 9, 10]. A diagnosis of Edwards syndrome is possible in the prenatal period. The primary screening test for initial detection of the syndrome is the non-invasive NIPT test using cell-free foetal DNA [11, 12]. Invasive methods to detect trisomies are amniocentesis, which is the collection of amniotic fluid, and chorionic villus biopsy. The collected amniotic fluid is tested to determine the foetus’ karyotype. Often, the course of the pregnancy itself and abnormalities in ultrasound images infer the presence of Edwards syndrome in the foetus. Abnormalities in prenatal ultrasound images are, for example, abnormal foetal weight gain, a single umbilical artery, a polyhydramnios or a choroid plexus cyst [6]. In addition to prenatal diagnostic methods, after the birth of a child with suspected Edwards syndrome, material (blood of the newborn) should be collected for karyotype analysis [1, 13].
A defect such as Edwards syndrome is fatal, and the only way to manage a patient with chromosome 18 trisomy is through palliative care. According to the Ordinance of the Minister of Health of 29 October 2013 on palliative and hospice care, guaranteed services include medical and psychological advice and consultation [14]. Doctors undertaking care for patients with Edwards syndrome have discussions among themselves about performing surgery on children with Edwards syndrome. These disputes are related to the unfavourable benefit/risk ratio during surgical treatment. Moreover, surgical procedures cause great pain and suffering for the child [15].
The primary predisposing factor for Edwards syndrome is the mother’s age. This diagnosis is due to the fact that the risk of chromosome segregation errors during meiotic divisions, which are the cause of this aberration, increases with the age of the mother [9]. Due to changing statistics on the incidence of Edwards syndrome, which has increased significantly in recent years, the present study was undertaken. This increase is mainly due to the increasing average age of women who become pregnant [1].
This situation requires the identification of nursing problems concerning the care of a newborn with a genetic syndrome, so the main purpose of this study was to identify nursing problems occurring in a newborn with Edwards syndrome and to discuss the management of care for the child and their parents. It should be noted that genetic syndromes are both a medical and social problem, so it is just as important to plan a model of care for the newborn as it is to consider the care of the patient’s parents. An unsuccessful diagnosis changes the lives of adults. Parents are very often left with a lack of knowledge about genetic defects, which is why it is so important to spend time with parents and explain the health consequences of the diagnosis, as well as to explain patient care and the essence of parent-child contact [14, 16].

METHODS

The paper uses a qualitative case study research method, which includes an in-depth analysis of a case study [17]. Through case study-based research, the targeted midwives and nurses are able to understand the causes and course of many phenomena that have a real impact on obstetric and nursing outcomes. The results of such studies improve the quality of treatment and patient care [18]. This study was used to help the midwifery and nursing team understand the complexity of the problem. Based on this method, data were collected on the patient through observation, physical examination, and analysis of medical records [19].
The study used the Apgar scale to make the first assessment of the newborn [20]. The FLACC (Face Legs Activity Cry and Consolability) scale was used to assess the pain scale [21].
The study was conducted in a tertiary referral hospital in a neonatal intensive care unit in Poland. The International Classification for Nursing Practice (ICNP) was used in creating the care plan. Nursing and midwifery are increasingly trying to develop a plan for patient care on a scientific basis and the needs of the patient, family, and community. The realisation of these needs requires the expression of actions based on terms that are registered and standardised to conform to a unified language in the global nursing field [22].
Written consent was obtained from the child’s mother to conduct this research.

CASE REPORT

A female neonate was delivered from pregnancy III and delivery III, at 36 weeks’ gestational age by caesarean section due to pelvic position in average general condition. The baby’s birth weight was 2200 g. The patient received an Apgar score of 6 in the first minute of life, and 8 in the fifth minute.
On the second day of life, the newborn was transported in a serious condition from a second-level hospital to a third-level hospital due to persistent hypoglycaemia and respiratory distress-syndrome. On admission, the patient had increased muscle tone, her body length was 50 cm, and her head circumference was 31 cm. Upon admission, the neonate was placed in an incubator and respiratory support was applied using an Infant Flow device (Biphasic FiO2 30%). A central catheter was placed in the patient. Parenteral feeding was introduced. On physical examination, they manifested dysmorphic features such as hypotelorism, gothic palate, receded mandible, nuchal fold, abnormal auricles, increased tension in the upper and lower extremities, fingers of hands clenched into fists, and abnormal position of the nipples.
On the day of admission, blood was secured for genetic testing, biochemistry, and haematology. The neonate’s pain was assessed at 5 on the FLACC scale. In addition, a chest X-ray and brain ultrasound were performed. Brain imaging showed asymmetry of the lateral ventricles of the brain. It was recommended that treatment be implemented (Table 1).
The newborn was monitored in stable condition for the next few days. The patient was on self-breathing with passive oxygen therapy. To minimise the neonate’s pain, because she scored 5 on the pain scale during admission, analgesics were administered according to the physician’s order sheet. In addition, non-pharmacological methods of pain relief, such as blanket wrapping, were used. The patient was breathing independently with passive oxygen therapy under constant saturation control. She was sensitive to touch and at times restless. Parenteral nutrition lasted for 4 days. The newborn urinated and defecated regularly.
On the first day, neurological abnormalities were noticed, so gentle care was implemented, and the patient was provided with thermal comfort and quiet. Redness around the umbilical stump was also noticed, so proper care of the umbilical stump – disinfection and airing of the umbilical area – was applied.
On day 4, a cardiac surgery consultation was held. An echocardiogram was performed, which revealed cardiac chamber disproportion, ventricular septal defect, persistent ductus arteriosus, bicuspid right ventricle, and atrioventricular valve anomalies.
On day 5, there were 2 apnoea incidents (at 04:00 and 05:00). Tactile stimulation was performed, and passive oxygen therapy was administered. The neonate received pain medication all the time, and pain during the fifth day was graded at 1, 1, 0, and 0 points. An ultrasound of the lungs was ordered. As a result of the examination, atelectasis changes in the upper lobe of the left lung and inferior aeration of the parietal parts of the lungs were noted. As a result, respiratory physiotherapy was recommended.
The newborn from day 6 regularly woke up every 2.5-3 h for feeding. The newborn was noted to have a lack of coordination of sucking and swallowing, so she was fed through a probe.
On day 6, the parents, who had no knowledge of caring for a newborn with genetic syndrome, arrived at the hospital. They were stressed, distracted, and distraught by the situation that had befallen them. The parents were encouraged to ask questions and interact with the newborn. Caregivers were involved in the care of the newborn, the rules of caring for the girl were explained. All instructions were given with understanding, thoroughness, and commitment. It was very important to create trust between the midwife and the patient’s parents. The parents were not judged or forced to interact with the newborn. The adults were informed that a psychologist was available.
On day 7, the antibiotic was discontinued, and on day 10, the patient was transferred from the incubator to a crib. She was fed with modified milk, and the food intake was increased as the days in the hospital progressed. Vital parameters were constantly monitored. Her heart rate was 140-170 bpm, and her saturation was 85-99%. Occasionally, the newborn required oral mucosal decongestion. All the time the patient had increased muscle tone. On day 7, fine-wave tremors of the limbs also began to occur. The newborn’s skin coats were pale pink.
On day 10, very irritated nasal mucous membranes were noticed, and the mucous discharge was coloured with blood, so nasal mucous membrane moistening with 0.9% NaCl solution and regular nasal cleansing were implemented. Moreover, care of the nasal area was applied. The newborn was assessed with a score of 3 on the FLACC scale. All the time, the patient’s muscle tone was increased.
On day 12, the karyotype result was obtained, and the presence of Edwards syndrome was confirmed. The parents were notified of the lethal defect and given information on further palliative care at home or in an inpatient hospice. The parents were informed about the possibility of psychological support. Information was also provided about the possible withdrawal of resuscitation measures when the child’s general condition deteriorated. The parents accepted the information given. The information provided was conveyed with sensitivity and empathy. The parents took this information very emotionally, but said they were prepared for such a diagnosis. They were given information about the possibility of psychological help, which they took advantage of.
On day 13, there was a cardiac surgery consultation and a decision to disqualify the newborn from surgery for a complex heart defect. The decision was based on a confirmed fatal foetal defect.
On the 15^th day, another visit from the parents took place. The parents were informed by the midwife about support groups operating in the city and encouraged to ask questions about newborn care. The parents were encouraged to read books to the patient and were taught how to recognise the baby’s needs. All information was conveyed in a calm manner, devoting adequate time to the parents. After the parents visited, the newborn cried less and became calmer.
On the 19^th day, there was a drop in saturation (to 72%). This situation required stimulation by the midwife. Oxygen was administered through a mask. It was recommended that blood be drawn for culture and biochemical tests. The newborn received a score of 2 on the pain scale. The baby cried often and was sensitive to touch. Wrapping the newborn with a blanket and talking to the baby was used as a non-pharmacological method of pain control during blood collection. The CRP results were 98 mg/dl, so antibiotic therapy was started – piperacillin/tazobactam was given.
On day 20, the newborn continued to run a fever and was sensitive to touch, so a suppository with paracetamol was given in addition to the antibiotic. The heating mattress was disconnected so that the patient would not overheat.
On day 27, there was still persistently elevated CRP, at 83 mg/dl. In this case, two-drug antibiotic therapy was administered and amicacinum was introduced. Excessive crying and tenderness of the child was noticed, so more frequent assessment of the child’s general condition and more frequent position changes were implemented. The pain score for the day was 2 points at 05:50, 1 point at 09:00, 2 points at 16:00. and 1 point at 21:00. Throughout this time the newborn was treated with pain medication.
On day 30, antibiotic therapy was completed. There were further visits from the parents, who became more and more confident in performing nursing activities with the newborn. They took it upon themselves to recognise the baby’s needs and, under the supervision of the midwife, performed nursing activities. It was noticeable that they were more reconciled to the situation that faced them and less stressed. During the kangaroo care, the patient was calm. On day 31, the baby was very restless and crying. She received a score of 9 on the FLACC scale. Observing the patient, additional non-pharmacological methods of pain relief such as wrapping the baby in a blanket and providing quiet were used.
Throughout his hospital stay, the newborn gained weight, tolerated food, and did not urinate. She urinated regularly and defecated on her own. Prophylactic measures were applied every day to prevent bedsores. These measures consisted of regularly changing the baby’s position in the crib, regularly repositioning the saturation sensor, using arm and leg supports, and lubricating the skin. The infant’s bedsores were not noticed throughout the hospital stay. During the entire stay in the NICU, gentleness and special attention were maintained during procedures, and the minimal handing principle was applied. The patient was provided with thermal comfort and quiet.
On day 32, a “For Life” certificate was issued, and the baby was transferred to a home hospice in stable condition. On day 32, the newborn received a pain score of 1.

PLAN OF CARE

The International Classification for Nursing Practice (ICNP) was used in creating the care plan. This classification was used because it allows midwives and nurses to construct nursing diagnoses based on clinical assessment of patients under their care. What is more, the diagnoses and measures used are presented through standardised terminology worldwide.
Diagnosis 1: Pain [10023130].
Intervention (IC):
• Assessing pain [10026119],
• Managing pain [10011660],
• Collaborating on pain management plan [10039831],
• Monitoring pain [10038929],
• Consulting for pain management [10024331],
• Identifying attitude toward pain [10009654],
• Administering pain medication [10023084],
• Promoting skin to skin technique [10035361],
• Monitoring risk for negative response to nurse-controlled analgesia [10039896],
• Evaluating response to pain management [10034053].
Outcomes: Reduced pain [10027917].
Thanks to the measures used, the administration of pain medication, and regular pain assessment, reductions in the patient’s pain were noted on the FLACC scale. The pain usually remained at the level of 0-2 points on the pain scale. Moreover, it was noted that the newborn’s contact with the parents had a beneficial effect on the reduction of pain. The patient was calmer and less sensitive to touch after kangaroo care by her parents.

Diagnosis 2. Impaired respiratory system function [10023362].
Intervention (IC):
• Assessing respiratory status [10036786],
• Skin assessment [10041126],
• Monitoring blood oxygen saturation using a pulse oximeter [10032047],
• Monitoring respiratory status [10012196],
• Pulmonary resuscitation [10044097],
• Maintaining airway clearance [10037351],
• Monitoring respiratory therapy [10037092],
• Assessing respiratory status [10036786].
Outcomes: Effective respiratory system function [10028160].
The applied actions and continuous monitoring of the blood saturation and heart rate of the newborn allowed effective tactile stimulation of the baby carried out by the midwife in situations of falling blood saturation. In addition, passive oxygen therapy and its evaluation allowed the baby to maintain a normal state.

Diagnosis 3: Infection [10023032].
Intervention (IC):
• Monitoring signs and symptoms of infection [10012203],
• Monitoring physiological status [10012183],
• Assessing signs and symptoms of infection [10044182],
• Administering medication [10025444],
• Monitoring response to treatment [10032109],
• Monitoring body temperature [10012165],
• Maintaining intravenous access [10036577],
• Use aseptic technique [10041784].
Outcomes: Infection [10023032].
Despite the aseptic techniques used and the close monitoring of the newborn’s condition, further episodes of elevated CRP in blood tests and elevated body temperature occurred. These findings illustrate the degree of undeveloped immune system and vulnerability of the newborn.

Diagnosis 4: Risk for cross infection [10041807].
Intervention (IC):
• Preventing infection [10036916],
• Assessing susceptibility to infection [10002821],
• Use aseptic technique [10041784],
• Washing the patient [10044803],
• Teaching family about hygiene pattern [10038131],
• Teaching family about susceptibility to infection [10038149],
• Teaching family about preventing cross infection [10041732].
Outcomes: No infection [10028945].
Thanks to the complex aseptic activities and regular hand disinfection of medical staff and visitors, it has been possible to prevent cross-infection between patients in the neonatal intensive care unit. This is very important because the immune system of newborns, especially premature babies, is not fully developed.

Diagnosis 5: Impaired newborn development [10023273].
Intervention (IC):
• Monitoring vital signs [10032113],
• Monitoring food intake [10036614],
• Managing parenteral feeding [10031908],
• Managing central line [10031724],
• Managing enteral feeding [10031795],
• Gastric tube care [10046145],
• Managing symptom [10031965],
• Use de-escalation technique [10036202] + rehabilitating [10016645],
• Monitoring physiological status [10012183],
• Monitoring body temperature [10012165],
• Monitoring blood oxygen saturation using a pulse oximeter [10032047].
Outcomes: Impaired newborn development [10023273].
Despite the measures used, the development of the newborn with Edwards syndrome was impaired. The disease caused the child to have difficulty coordinating sucking and swallowing throughout her hospital stay. Moreover, the patient was characterised by increased muscle tone, and attempts to deviate from passive oxygen therapy often ended in apnoea requiring tactile stimulation and a return to oxygen therapy.

Diagnosis 6: Risk for impaired caregiver child attachment [10027235].
Intervention (IC):
• Promoting caregiver child attachment [10035342],
• Teaching about caregiver child attachment [10036842],
• Promoting skin to skin technique [10035361].
Outcomes: Effective caregiver child attachment [10028658].
The older children of the patient’s parents required care at home, so the parents could not visit their sick newborn very often. Another barrier was the parents’ awareness that Edwards syndrome is a fatal disease, so the risk of a disrupted bond between child and parents was at a high level. All the instructions on how to contact the patient and encourage self-care of the newborn caused the parents to feel more confident in their activities with each visit, and they were less afraid of contact with the patient, which had a positive effect on the bond between the child and parents. In addition, after each visit by the parents, the patient was less sensitive to touch and definitely calmer.

Diagnosis 7: Emotional problem [10029839] + parent [10014023].
Intervention (IC):
• Protecting patient right [10015919],
• Assessing family knowledge of disease [10030591],
• Teaching about disease [10024116],
• Teaching about hospice [10044475],
• Teaching about caregiver child attachment [10036842],
• Teaching family about treatment regime [10024656],
• Assessing sadness [10038940],
• Assessing psychological status [10030734],
• Providing emotional support [10027051],
• Assessing emotional support [10030589],
• Providing spiritual support [10027067].
Outcomes: Emotional problem [10029839] + parent [10014023].
Awareness that the child is approaching the moment of death creates the need for a multidisciplinary team to support the parents. Coordinated and specialised support of parents by the nursing team improves therapeutic quality. The most important thing in this situation was communication, both verbal and non-verbal, and understanding towards the parents. For the parents, the moments with the child were very difficult, but with each visit they felt more confident in their activities and less afraid of contact with their sick child. Despite their best efforts, it was still a huge emotional problem for the parents, but with each visit and with each conversation with the psychologist, doctor, or midwives/nurses, the parents became less afraid of the situation in which they found themselves.

CONCLUSIONS

Due to the increase in the number of children born with Edwards syndrome, which is due to the increasing age of women becoming pregnant, it is very important to determine the nursing problems occurring in a newborn with trisomy of chromosome 18. The presented nursing care plan based on the International Classification of Nursing Practice made it possible to present the most important problems of the newborn and the courses of action taken by the midwife.
As a consequence of the interventions undertaken, positive changes were noticed in the patient, in particular regarding the improvement of respiratory function. In addition, because of the observation and management of the midwife, there was a minimisation of the pain experienced by the newborn. Thanks to the time spent by the patient’s parents to educate adults about their child’s genetic syndrome, to support them in caring for their newborn, and to explain the importance of the child’s contact with the parents, they understood the way the treatment team worked and the decisions made by doctors, midwives, and nurses. In addition, the parents accepted the situation in which they found themselves.

Disclosures

This research received no external funding.
The study was approved by the Bioethics Committee of the Medical University of Gdańsk (Approval No. KB/8/2024).
The authors declare no conflict of interest.

References