Outcomes and morbidities of patients who survive haemoglobin Bart’s hydrops fetalis syndrome: 20-year retrospective review

Introduction: Haemoglobin Bart's hydrops fetalis syndrome was once considered a fatal condition.However, advances over the past two decades have enabled survival of affected patients.Data relating to their morbidities and outcomes will help medical specialists formulate a management plan and parental counselling.Methods: All babies with the syndrome who survived beyond the neonatal period and were subsequently managed long-term in eight public hospitals in Hong Kong from 1 January 1996 to 31 December 2015 were included.Patient and parent characteristics, antenatal care, reasons for continuation of pregnancy, intrauterine interventions, perinatal course, presence of congenital malformations, stem-cell transplantation details, and long-term neurodevelopmental outcomes were reviewed.Results: A total of nine patients were identified, of whom five were female and four male.The median follow-up duration was 7 years.All were Chinese and were homozygous for the Southeast Asian αthalassaemia deletion.Five of the nine mothers received antenatal care at a public hospital and opted to continue the pregnancy after antenatal diagnosis and counselling.Despite intrauterine transfusions, all babies were born with respiratory depression and required intubation and mechanical ventilation during the neonatal period.Hypospadias was identified in all four male infants. Growth retardation, global developmental delay, and residualOutcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review New knowledge added by this study • This is the first territory-wide multicentre retrospective review of demographic data, morbidities, and outcome of survivors of haemoglobin Bart's hydrops fetalis syndrome in Hong Kong.• Intrauterine transfusion is commonly practised in local obstetric units in an attempt to reduce fetal hypoxia and fetal-maternal complications, presumably contributing to survival.• Prematurity and perinatal respiratory depression are often encountered; intubation, mechanical ventilation, and exchange transfusions are beneficial.Regular hypertransfusion and optimal iron chelation are advocated.Haematopoietic stem-cell transplantation is curative but morbidities and mortalities should not be overlooked.Implications for clinical practice or policy • Better patient and doctor education is needed, stressing the importance of early accurate diagnosis and the serious sequelae of late presentation.• Diagnosis should be considered if ultrasonographic features are clinically suggestive, regardless of parents' mean corpuscular volume, owing to uniparental disomy or non-paternity.Clinical vigilance and prompt specialist referral for ultrasonography and accurate diagnostic testing are crucial to improve maternal-fetal outcomes.• For parents who opt to continue the pregnancy after diagnosis, meticulous counselling about perinatal and long-term outcomes and morbidities of survivors is imperative.• Multidisciplinary anticipatory care among obstetricians, pathologists, neonatologists, and haematologists promotes survival, lowers morbidity, and improves long-term outcomes.Patients can now survive beyond childhood, so adult-care physicians can expect to encounter an increasing number of referrals of adult survivors of haemoglobin Bart's hydrops fetalis syndrome.