Prenatal Counselling of Birth Defects by the Neonatologist

INTRODUCTION
Birth defects, also known as congenital anomalies, are abnormalities of body structure at birth which can lead to impaired function and physical disabilities. Children with birth defects may also have developmental or intellectual disabilities later on in life. These congenital anomalies can be major or minor in nature. The National Centre on Birth Defects and Developmental Disabilities in the US has defined major anomalies as anomalies with significant impact on the affected child that may require medical or surgical intervention, and minor anomalies as those having little impact on the affected child and requiring minimal intervention.¹ The National Birth Defects Registry, Singapore was set up by the Ministry of Health on January 1, 1993, to gather data on congenital birth defects. Data analysis from this registry showed a birth defect incidence of 23.99 per 1,000 live births between 1994 and 2000.² In the National Birth Defect Registry, a decreasing trend in birth defect incidence among live births and stillbirths was observed, in association with an increasing trend of abortions for birth defects in the same period. Birth defects remain one of the leading causes of perinatal and neonatal deaths in Singapore, causing 35.1% of neonatal deaths in 2017.³

The majority of birth defects have unknown causes, but some are due to genetic, environmental, and maternal causative factors. Single-gene defects constitute around 17% of birth defects.⁴ Examples of single gene defects include cystic fibrosis, sickle cell disease, and muscular dystrophy. About 10% of birth defects are due to chromosomal abnormalities, such as trisomy, monosomy, duplications, deletions, and other complex rearrangements.⁴ Another 4–10% are due to environmental or maternal factors,⁵ such as maternal diabetes, maternal drug usage, and congenital intrauterine infection.

CLASSIFICATION OF BIRTH DEFECTS
Birth defects can be classified by developmental mechanisms or clinical presentation.¹ The developmental mechanisms classification recognizes malformations, disruption, dysplasia, and deformations.

Malformations, such as congenital heart disease and intestinal atresia, are defined as structural deformities that result from intrinsically abnormal developmental processes, leading to abnormal, incomplete, or failure of formation of organs or part of an organ. In disruptions, including amniotic band complexes and transverse limb deficiencies, the process is intrinsically normal with extrinsic breakdown of or interference with this process. Dysplasias, such as skin naevus, achondroplasia, and neurofibromatosis, are abnormalities of histogenesis or formation of tissues and commonly affect skin, brain, cartilage, or bone. Deformations, such as structural uterine abnormalities and oligohydramnios in bilateral renal agenesis leading to the Potter sequence, are abnormalities in shape, form, or position of a part of the body resulting from mechanical forces that affect structures after their development.

When classified by clinical presentation, birth defects may be isolated, multiple congenital (two or more unrelated major anomalies occurring together in presumed random association), part of a sequence or association (patterns of multiple anomalies that occur with a higher than random frequency), or part of a syndrome. Syndromes are constitutions of several anomalies due to a single genetic cause, an environmental cause, or gene-environment interactions. Examples of syndromes include trisomy 21 and congenital rubella syndrome.⁶ Table 1 lists some common birth defects for which the neonatologist may be requested to provide prenatal counselling.



PRENATAL TESTING FOR BIRTH DEFECTS
Prenatal testing during pregnancy is commonly performed to screen for birth defects. It may be noninvasive or invasive and can be offered sequentially and selectively according to gestation and risk factors. Prenatal ultrasonography is routinely offered for foetal dating, detection of multiple pregnancies, nuchal translucency, and detailed foetal anomaly screening. However, sensitivity may be limited by maternal habitus, suboptimal foetal positioning, operator experience, and usefulness in selected defects like congenital heart disorders.⁷ Table 2 lists examples of noninvasive prenatal testing in pregnancy.



Invasive modes of prenatal testing are indicated in cases where family history or noninvasive testing suggest an increased risk of abnormality.⁸ Examples include abnormal serum and ultrasound markers that generate high-risk profiles for aneuploidy, necessitating chorionic villus sampling, or amniocentesis for confirmation. Table 3 lists some methods of invasive prenatal testing.



Where prenatal testing yields a significant foetal anomaly, it is prudent for parents to receive counselling regarding the options available to them. These options include termination of pregnancy, medical, or surgical intervention before or after birth, or advance preparation of parents for the birth. Prenatal diagnosis enables parents to prepare psychologically, socially, financially, and medically for a stillborn child or a child with significant health problems or disabilities that require intervention or transfer to a tertiary centre with relevant expertise and facilities.⁹

INDICATIONS FOR PRENATAL COUNSELLING
Prenatal counselling by a neonatologist has numerous advantages for the affected baby and parents as well as healthcare teams caring for the baby. It facilitates coordination of prenatal and post-natal care plans. Parents can be provided with detailed information and prepared to participate in post-natal care. Prenatal counselling enhances communication between parents and the healthcare team and can foster a therapeutic partnership for better management before and after birth.¹⁰ Indications for counselling include cases that might require complex delivery room management, and when major foetal anomalies are detected, foetal intervention is necessary, multiple paediatric or surgical specialties are involved, prolonged and difficult post-natal course is expected, or prognoses are uncertain. In foetuses with lethal birth defects, counselling is important in preparing parents psychologically on what to expect at birth.¹⁰

MULTIDISCIPLINARY COUNSELLING TEAM
Counselling should be undertaken by a multidisciplinary team, helmed by a neonatologist. The multidisciplinary team includes paediatric, medical, and surgical specialists, depending on the birth defect. For example, a foetus with congenital diaphragmatic hernia requires joint consultation by the neonatologist and surgeon, while a foetus with a chromosomal disorder may require counselling by the neonatologist and geneticist. The team can include obstetricians, nurses, coordinators, and counsellors. The neonatologist functions as a generalist who cares for the baby holistically whilst assisting the parents in understanding the transition from foetus to neonate.¹⁰

The first encounter with parents begins with an assessment of parents’ prior understanding, their desire for information, and emotional level. Based on this, the neonatologist presents basic information regarding the birth defect and management options to parents, and supports their decision-making process. Should the parents choose to keep the pregnancy, the neonatologist will need to prepare them for what to expect at delivery and the possibility of neonatal intensive care unit (NICU) admission. Parents who opt for termination or palliation must be supported and guided during bereavement.¹¹

When approaching parents for prenatal counselling, introduce all members of the multidisciplinary team and clarify each member’s role. There should be a thorough review of prenatal investigations to ensure that everyone has the same understanding of results to date. There should be a detailed discussion of the diagnosis (including aetiology, pathophysiology), investigative and therapeutic procedures, and likely prognosis.¹⁰ The parents should be given a chronological description of the events at delivery, the healthcare team involved, and likely appearance of the baby, as well as indications for and techniques of neonatal resuscitation. In cases where there is a need for immediate intubation soon after delivery, such as congenital diaphragmatic hernia, parents may not be able to hear the baby cry or hold the baby immediately after birth. While most uncomplicated pregnancies are expected to be carried to term, birth defects are associated with a higher risk of preterm delivery¹² which may complicate post-natal management. Although infants with severe birth defects are unlikely to feed in the first few days, mothers can be encouraged to provide breast milk once gavage feeding is established. A tour of the NICU enables parents to feel less anxious and gain a better understanding. All these elements of counselling can be tailored according to the individual birth defect and parental expectations.

The flowchart in Figure 1 depicts pregnancy options following prenatal counselling. If the parental decision is to terminate pregnancy, the mother will be referred back to an obstetrician for counselling. The Singapore Termination of Pregnancy Act (Chapter 324) permits termination of pregnancy up to a gestation of 24 weeks 0 days. Termination of pregnancy beyond 16 weeks can only be performed by an authorized medical practitioner with the necessary qualifications and only after mandatory counselling. Consent for termination is only taken 48 hours after counselling is completed.13

Table 4 lists prenatal birth defects that are known to be associated with early death and/or associated with unacceptably high morbidity among survivors. The Guidance on Supportive and Comfort Care in Vulnerable Babies¹⁴ describes how parents may be offered palliative care after birth in these situations. Parents will need to be made aware of the baby’s expected appearance at birth, with the possibility of having some signs of life but an uncertain duration of survival. They should be offered a private room to spend time with the baby and advised to invite family members or religious leaders to bless the baby or offer prayers. Memory-making moments such as keeping a lock of hair, taking photographs, and making hand or footprints are often very useful in assisting parents during bereavement.15

PRENATAL COUNSELLING FOR CONGENITAL DIAPHRAGMATIC HERNIA
A congenital diaphragmatic hernia is an anomaly where abdominal contents migrate into the chest through a defect in a diaphragm which failed to close during development. This defect is usually detected through antenatal ultrasound scans. It can be complicated by pulmonary hypoplasia, persistent pulmonary hypertension, and air leak syndromes. It is important to counsel parents that the baby likely needs resuscitation and intubation at birth, followed by a potential range of intensive care such as surfactant administration, high-frequency ventilation, and inhaled nitric oxide therapy. While it is important to convey the potential short and long-term morbidities, it is essential to provide hope for the parents that surgical correction is possible. The paediatric surgeon should be present to provide the parents with an overview of the surgical correction of the hernia after stabilization. Technical information should be delivered to the parents in a manner tailored to their knowledge base, being mindful of their emotional needs throughout the consultation. Parents should also be allowed to have time to process information and offered follow-up consultations to clarify doubts as necessary.

PRENATAL COUNSELLING FOR DOWN SYNDROME
Down syndrome, or trisomy 21, occurs when there is an extra copy of chromosome 21 and can result in a wide range of medical and developmental complications. Universal intellectual disability in individuals with Down syndrome necessitates special education. When a high-risk profile is generated for Down syndrome in abnormal first-trimester serum and ultrasound screening, chorionic villus sampling, or amniocentesis must be offered to confirm the diagnosis.

The American National Society of Genetic Counsellors published guidelines in 2011⁹ on how to communicate a prenatal or post-natal diagnosis of trisomy 21 whilst incorporating parental education with counselling to aid understanding and acceptance of the diagnosis and subsequent decision-making. The counsellor should present information in a balanced manner¹⁶ using a neutral tone without value judgments to facilitate informed decision-making whilst respecting parental personal values and beliefs. It is important to determine the type of Down syndrome to provide counselling on the risk of recurrence.

During counselling, convey the wide spectrum of ability observed in individuals with Down syndrome.¹⁷ It should be emphasized that every baby with Down syndrome is different and parents can be provided with knowledge of a range of possible outcomes and how this may affect their marriage and family.⁹ Parents will benefit from an understanding of locally available services, including enrolment in an Early Intervention Programme to maximize long-term outcomes. The Down Syndrome Association (DSA) of Singapore can provide support and training from childhood into adulthood, through an Independent Living and Training Centre.¹⁸ Parents’ emotional and informational needs guide the initial consultation. Communicating a diagnosis is a continuous process and further consultations are often required to provide more information.^19-20 Information about pregnancy termination, adoption, or foster care should be provided to families who feel they cannot raise a child with special needs.

PRENATAL COUNSELLING FOR BARTS HYDROPS FETALIS
Barts hydrops is the most severe form of alpha thalassaemia in which abnormal haemoglobin is produced. It presents with severe foetal anaemia and excessive accumulation of fluid in the skin as well as the pleural, pericardial, and peritoneal cavities.²¹ Once considered a lethal malformation incompatible with life, reports are emerging of the possibility of survival through intrauterine foetal transfusions, followed by monthly neonatal packed red cell transfusions prior to hematopoietic stem cell transplant.²² Survivors mostly require lifelong transfusion with associated complications of growth retardation and developmental delay.

Counselling for Barts hydrops aids parents in decision-making on whether to terminate the pregnancy, carry the pregnancy to term with palliative intent, or provide regular transfusions. The counselling process involves a review of the pathophysiology and autosomal recessive mode of inheritance. Parents’ concerns and fears should be acknowledged, and they should be reassured that the healthcare team will support them regardless of their decision. Parents should be prepared psychologically for the expected appearance of the baby, who may appear severely pale, oedematous, or be stillborn. Parents opting for palliative care may wish to participate in memory-making moments.

PARENTAL PERSPECTIVES
In cases of severe birth defects that are incompatible with life, neonatologists often counsel for a bleak outcome. Post-counselling, however, parents may choose different options, depending on personal belief. A study investigating parental choices following counselling for foetal trisomy 13 or 18 showed that 55% of the parents chose to undergo pregnancy termination and 20% wanted labour induction with palliative care, while 20% were content with expectant management and palliative care. Yet, another 2% chose full intervention, of whom 3% were lost to follow-up. A majority of women who chose to continue with the pregnancy following diagnosis desired expectant management with palliative care, because they wanted time and memories with the baby, did not want to ‘play God’ themselves or wanted ‘nature to take its course’.²³

Neonatologists often focus on counselling parents regarding what can be done before birth, the need for immediate resuscitation at birth, level of care, treatment required, and prognosis. They feel that it is important to convey medical facets of management, expecting that this is what parents would want to know. On the other hand, a study investigating parental expectations showed that parents most preferred having knowledgeable physicians, caring providers, sufficient time to consider how they viewed the defect, and be given hope.²⁴

Parents expressed that prenatal counselling allowed them to be prepared by understanding how to manage their child and their expectations. They preferred knowledgeable physicians who could provide information on the possible complications and outcomes, and physicians who understood their specific situation. They appreciated healthcare staff who could describe, explain, or advice regarding the birth defect at a language level that they could comprehend. However, they trusted physicians less and felt more anxious when there was discrepant information from different professionals, and asked for medical providers to communicate with each other for consistency of information.²⁴

Above all, parents valued compassion and sensitivity as these are critical components of a prenatal consultation. Parents were also concerned about the human aspects of care and were reassured to see healthcare providers interacting with infants during their NICU tour. They appreciated the allowance of hope despite the grim prognoses and significant morbidities. Finally, they valued the time spent with them by the neonatologist; the repeat consultations have been shown to reduce parental anxiety.²⁴

PARENTAL EMOTIONS FOLLOWING PRENATAL COUNSELLING
Following prenatal counselling, parents often describe a feeling of raw emotions overwhelming their daily lives, including shock, distress, and disbelief.²⁵ It may require more than one counselling session for parents to absorb and process the information. It is important to read their nonverbal cues. Following diagnosis of a birth defect, parents often go through the stages of grief, for which they may require grief counselling to help them cope with the loss of a perfectly healthy child that they hoped for.²⁶ Parents may fear the uncertainty of diagnosis and the pain that their child will have to go through due to the defect or treatment. They may also experience anxiety over the baby’s appearance at birth, the need for intensive care and surgery, prolonged hospitalization, and the cost of medical bills. They may have feelings of helplessness, guilt, and shame, and may blame themselves for the defect even in the absence of medical causation. A grounded theory study on informational needs and behaviour following antenatal diagnosis showed that some parents coped by pre-occupying themselves with all the information about the defect, whereas other parents coped by ‘blunting’, a process where they avoided learning about it.²⁷ Regardless of their coping mechanism, it might help to make parents feel supported by providing them with resources such as local helplines and support groups.²⁶

CONCLUSION
Counselling of birth defects by a neonatologist is advantageous because the neonatologist will coordinate care, meet with both parents prenatally and guide them through the post-natal journey. Prenatal counselling requires an in-depth knowledge of the birth defect, including the causes, complications, and long-term outcome. At the initial meeting with the parents, it is important to assess parental informational and emotional needs, so that counselling can be tailored to their needs and knowledge level. It is important to be aware of the available support groups and resources. Counselling must be carried out in a neutral, nondirective, and nonjudgmental manner, emphasizing both negative and positive aspects. Parents must be treated with respect and empathy as they struggle to come to terms with the news and the decision to continue or terminate the pregnancy.

About the authors
Dr Carly Yanlin Wu is a Medical Officer from the Department of Neonatal & Developmental Medicine at Singapore General Hospital, Singapore. Conflict of interest: none.

Clinical Associate Professor Daisy Kwai-Lin Chan is Senior Consultant from the Department of Neonatal & Developmental Medicine at Singapore General Hospital, Singapore and Clinical Associate Professor at the National University of Singapore-Yong Loo Lin School of Medicine and Nanyang Technological University, LKC School of Medicine, Singapore. Conflict of interest: none.