To our knowledge, this is the first case of PBS formally reported from PNG and other resource-limited regions in Oceania. In addition, it is the first report from PNG of prenatal diagnosis of a severe congenital abnormality using ultrasound technology.
The burden of birth defects in low-resource countries remains relatively under-researched and has been recognised as a target for studies and surveillance [27, 28]. Information on the prevalence and characteristic of congenital abnormalities in PNG is limited [14–17]. Reporting and analysis of congenital abnormalities from low-resource environment such as PNG could be improved by establishing an international online passive surveillance system. Here, clinicians could submit case reports online and receive additional information and diagnostic support.
The ultrasound findings of anhydramnios and megacystis, in combination with the notable absence of a urethral meatus, a hypoplastic chest and the absence of anterior abdominal wall musculature on physical examination, strongly support a diagnosis of PBS in this patient, despite the lack of more detailed ultrasound or pathology data to corroborate these findings. Clinicians did not have the necessary training and experience to confidently detect PBS-related abnormalities on ultrasound, such as polycystic or dysplastic kidneys, hydronephrosis, lung hypoplasia, fetal ascites, and absent abdominal wall musculature [7, 9], and autopsy facilities and a pathologist were unavailable.
PBS comprises a spectrum of mild to severe presentations . This patient’s prenatal features of persistent mid-second trimester anhydramnios and megacystis pointed towards the uniformly lethal end of the spectrum of the syndrome [29, 30]. Although the final diagnosis could only be made after delivery, a poor prognosis for the fetus was evident based on the observed ultrasound features alone. Furthermore, capacities for complex postpartum surgical interventions  are largely absent in PNG. In such clinical circumstances the survival of the fetus is very unlikely and he should be considered a dying patient . Given its detection before fetal viability mothers ‘should be explained the nature and prognosis of the anomaly and offered both continuation of the pregnancy or induced abortion’ . This was done in this case, and both mother and clinicians opted for non-intervention and monitoring. However, in order to reduce anxiety and the risks of over- or under-interventions, a more guarded response to parents may be more appropriate when significant uncertainties regarding the prognosis remain. Further advice should be sought when possible (e.g. ultrasound images could be sent elsewhere for verification). If a clear prognosis cannot be established, delivery should be awaited and mothers counseled accordingly. Intervention may then only become necessary should the fetal abnormality pose a threat to the mother’s health, such as hydrocephalus, increasing the risk of obstructed labour.
The limitations of ultrasound, and the limitations of the skill set of those performing ultrasound, must be highlighted to parents prior to scanning. In hospital practice, ultrasound complements, not replaces, routine clinical history and examination. Clarifying the purpose of the scan with the mother (e.g. dating the pregnancy) and reiterating that a scan does not rule out problems (congenital abnormality, obstetric complications) is very important in order to ensure that no harm is done. This is even more important when ultrasound is used as part of medical research. The mother of the patient was counseled to this effect at enrollment into the trial, was immediately withdrawn from the study upon detection of the abnormality, and was promptly referred to, and reviewed by, the most senior obstetric doctor in the region. The introduction of ultrasound in obstetric practice in PNG somewhat compares to introduction of a completely new medical technology to clinical practice in a high-income country : it is the clinicians’ responsibility to be adequately trained and experienced prior to using information gathered through safe application of this technology to guide subsequent patient management. Ultrasound can assist doctors greatly but both mothers and doctors must recognise the limitations of the operators’ skill set and the technology overall. Introducing a national training curriculum for obstetric and gynaecological ultrasound could assist doctors in guiding and standardising their scanning practice.
It is likely that the large majority of congenital abnormalities detected prenatally in PNG will be managed conservatively. Induced abortion may rarely be opted for by parents because termination of pregnancy for socio-economic reasons is illegal in PNG and subject to severe legal punishment. The only circumstance where termination is legal is when undertaken by a specialist to save the life of a pregnant woman (includes preservation of both physical and mental health) . In view of the current law (which is based on a British law from 1861 , now considerably amended in the UK), active management of this case (e.g. medical termination of pregnancy using misoprostol) could have been illegal. Future use of ultrasound technology for prenatal diagnostics in PNG should be carefully implemented in light of existing laws and ethical considerations.
Prenatal diagnosis of a severe congenital abnormality with poor prognosis for survival post-delivery must prompt clinicians to counsel parents regarding resuscitation of the newborn. Parents’ wishes must be respected, but counseling should explain the rationale behind no resuscitation or palliative treatment when there is sufficient certainty of a lethal outcome. In our case the mother’s request for neonatal resuscitation to be performed if signs of life were present at birth was respected. National guidance is not available but could be based on the principle that attempting neonatal resuscitation could be guided not only ‘by aetiology of the baby’s condition, but should take into account the expected outcome, what is thought to be the best interests of the baby, and the wishes of parents’ .
PNG is one of the most culturally diverse countries in the world. In addition to mapping the burden of birth defects in PNG, future research needs to evaluate the acceptability of ultrasound as part of antenatal care amongst women in PNG. Such findings can assist with developing culturally-appropriate guidelines, as observed elsewhere . Similarly, understanding beliefs and attitudes towards birth defects, and the impact of the latter on the acceptability of ultrasound, clinical research, induced abortion and palliative treatment of affected fetuses is urgently required.
In summary, prune belly syndrome, a rare congenital malformation, occurs in Papua New Guinea. Monitoring and reporting of birth defects in PNG could be improved. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in resource-limited settings such as PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on ultrasound and birth defects. National medico-legal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities is required.
Written informed consent for publication of this case report and accompanying images was obtained from the patient’s parents. A copy of the signed informed consent form is available for review by the Series Editor of BMC Pediatrics.
The mother of the infant gave informed written consent to participate in a prevention of malaria in pregnancy clinical trial (IPTp study), which was approved by the PNG IMR Institutional Review Board, PNG Medical Research Advisory Committee (MRAC) and the University of Melbourne Royal Melbourne Hospital Human Research Ethics Committee. The trial acts in compliance with the current revision of the Declaration of Helsinki, and with the International Conference for Harmonisation Good Clinical Practice (ICH-GCP) regulations and guidelines.