Timely prenatal diagnosis of CHD allows families to participate in complex decisions and plan for the care of their child. This study sought to investigate whether timing of initial fetal echocardiogram and the characteristics of fetal counselling were impacted by parental socio-economic factors.

Retrospective chart review of fetal cardiac patients from 1 January, 2017 to 31 December, 2018. We reviewed gestational age at first fetal echo, maternal age and ethnicity, zip code, rurality index, and hospital distance. Counselling was evaluated based on documentation regarding use of interpreter, time billed for counselling, and treatment option chosen.

Total of 139 maternal–fetal dyads were included, and 29 dyads had single-ventricle heart disease. There was no difference in income, hospital distance or rurality index, and first fetal echo timing. There was no significant difference between maternal ethnicity and maternal age, gestational age at initial visit, or follow-up. Patients in rural areas had increased counselling time (p < .05). There was no difference between socio-economic factors and ultimate parental choices (termination, palliative delivery, or cardiac interventions).

Oregon comprises a heterogeneous population from a large geographical catchment. While prenatal counselling and family decision-making are multifaceted, we demonstrated that dyads were referred from across the state and received care in a uniformly timely manner, and once at our centre received consistent counselling despite differences in parental socio-economic factors.

Women receiving a prenatal diagnosis of fetal anomalies are a high-risk population for psychological distress leading to mood disorders. Even so, to date we have no evidence of studies who investigated the levels of maternal anxiety and depression in pregnant women receiving a prenatal diagnosis of fetal CNS anomalies.

The aim of this study was to assess the prevalence of anxiety and depression levels in a pilot sample of pregnant women at the Prenatal Diagnostic Unit of the Bambino Gesù Children Hospital.

We collected data among 43 women who receipt fetal brain anomaly diagnosis (mean age: 35 yrs, SD ± 6.3, range 19-48 yrs; mean week at first access 26w, SD ± 3.9, range 18-33w). Prenatal diagnosis including: ventriculomegaly (37.2%), posterior cranial fossa (23.3%), choroid plexus cysts (11.6%), anomalies of CC (7%) and other (20.9%). Pregnancies with assisted reproductive technology were 14%. We use the Patient Health Questionnaire (PHQ-9) and the Generalized Anxiety Disorders (GAD-7) questionnaires to assess anxious-depressive symptoms.

showed a rate of mild-to-severe anxious depressive symptoms by 60.5% and 48.8% respectively. In detail: 41.9% mild, 14% moderate and 4.7% of severe anxiety. Meanwhile, 41.9% mild and 7% moderate depression. The prevalence of comorbid depressive and anxiety symptoms was 39.5% among the entire sample.

Preliminary data showed a high prevalence of anxious depressive symptoms and comorbidity among pregnant with CNS fetal anomalies. Women receiving a fetal CNS anomaly diagnosis may need additional psychological support or counselling.

No significant relationships.

To investigate UK variability in prenatal and postnatal management strategy of right aortic arch and double aortic arch (RAA/DAA).

Online surveys were sent to senior physicians (consultants) of the National Fetal Cardiology Working Group regarding prenatal diagnosis, counselling, and perinatal management of antenatally diagnosed RAA/DAA and to the British Congenital Cardiovascular Association regarding postnatal management strategies.

There were 28 prenatal and 90 postnatal surveys completed. Prenatally, there was consensus for potential associated chromosomal/genetic anomalies, but there was variation in the risk quoted. Confidence in defining aortic arch morphology was reported by 43% (12/28) of fetal cardiologists. There was variation in what was felt to be possible symptoms/signs of a compressive vascular ring, postnatal investigation, postnatal management, follow-up duration of asymptomatic patients, and indications for surgical intervention.

This study has highlighted important areas for future research: improving accuracy of prenatal diagnosis, clarification of potential symptoms, optimal investigation strategies, and indications for surgery.

To better understand parents’ accounts of their prenatal and postnatal experience after prenatal diagnosis of CHD – particularly emotional processing and coping mechanisms – to identify strategies to improve support.

This single-centre, longitudinal qualitative study included pregnant mothers and their support persons seen in Fetal Cardiology Clinic at Vanderbilt Children’s Hospital from May through August 2019 for probable complex CHD. Twenty-seven individuals from 17 families participated in 62 phone interviews during pregnancy and postpartum: 27 conducted after the initial prenatal cardiology consultation, 15 after a follow-up prenatal visit, and 20 after birth. Applied thematic analysis approach was used to code and analyse transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was >80%.

Patients included mothers (16 [59%]), fathers (8 [30%]), and other support persons (3 [11%]). Initial fetal diagnoses included a range of moderate to severe CHD. Prenatally, parents sought to maintain hope while understanding the diagnosis; planning for the future rather than focusing on day-to-day was more common if prognoses were better. Postnatally, with confirmation of prenatal diagnoses, parents’ sense of control expanded, and they desired more active engagement in clinical decision making.

To enhance effective communication and support, understanding how parents conceptualise hope in relation to diagnosis and how that may evolve over time is critical. Expectant parents whose child has a significant risk of mortality may demonstrate hope by focusing on positivity. As prognostic uncertainty diminishes postpartum, the parental role on the team may shift, requiring clinicians to provide different support.

Prenatal diagnosis of critical CHDs and planned peripartum care is an emerging concept in resource-limited settings.

To report the impact of prenatal diagnosis and planned peripartum care on costs of neonatal cardiac care in a resource-limited setting.

Prospective study (October 2019 to October 2020). Consecutive neonates undergoing surgery or catheter-based interventions included. Patients were divided into prenatal (prenatal diagnosis) and post-natal (diagnosis after birth) groups. Costs of cardiac care (total, direct, and indirect) and health expenses to income ratio were compared between study groups; factors impacting costs were analysed.

A total of 105 neonates were included, including 33 in prenatal group. Seventy-seven neonates (73.3%) underwent surgical procedures while the rest needed catheter-based interventions. Total costs were 16.2% lower in the prenatal group (p = 0.008). Direct costs were significantly lower in the prenatal group (18%; p = 0.02), especially in neonates undergoing surgery (20.4% lower; p = 0.001). Health expenses to income ratio was also significantly lower in the prenatal group (2.04 (1.03–2.66) versus post-natal:2.58 (1.55–5.63), p = 0.01);, particularly in patients undergoing surgery (prenatal: 1.58 (1.03–2.66) vs. post-natal: 2.99 (1.91–6.02); p = 0.002). Prenatal diagnosis emerged as the only modifiable factor impacting costs on multivariate analysis.

Prenatal diagnosis and planned peripartum care of critical CHD is feasible in resource-limited settings and is associated with significantly lower costs of neonatal cardiac care. The dual benefit of improved clinical outcomes and lower costs of cardiac care should encourage policymakers in resource-limited settings towards developing more prenatal cardiac services.

The effect of prenatal diagnosis on prognosis in patients with transposition of the great arteries is not clear. In this study, we compared the outcomes after arterial switch operation.

Outcome of 112 patients who had arterial switch operation in the neonatal period were analysed. The patients were divided into two groups: those who had prenatal diagnosis (Group 1; n = 34) and those who did not (Group 2; n = 78). The patients were also classified based on their diagnosis: simple transposition, transposition with ventricular septal defect and/or aortic arch hypoplasia, and Taussig–Bing anomaly.

In Group 1, the C-section delivery rate was higher (82% vs. 44%; p = 0.004), and it was observed that patients in Group 1 were more often intubated upon admission to the neonatal ICU (38% vs. 9%; p = 0.005). No differences were found between the two groups in terms of operation time, cardiopulmonary bypass time, post-operative invasive respiratory support duration, or extracorporeal membrane oxygenation support. It was observed that those who had Taussig–Bing anomaly had a higher mortality.

Timely treatment have a positive effect on neonatal mortality and morbidity. That’s why all families with prenatal diagnosis of critical CHD should be recommended to have the delivery in a tertiary care hospital. Although it could not be demonstrated in this study, prenatal diagnosis has a potential to improve surgical results especially in countries or cities, which does not have enough resources for transfer and surgical units. Further efforts are needed to improve prenatal screening programmes.

Women carrying a fetus diagnosed with congenital heart disease often experience significant distress because of their medical diagnosis. Given the well-documented impact associated with elevated prenatal stress and critical importance of developing targeted interventions, this study aims to examine stressors, coping and resilience resources, and mental health treatment preferences in pregnant women receiving a congenital heart disease diagnosis to inform the development of a psychological intervention to reduce maternal distress prenatally.

Three groups of participants were included consisting of two pregnant women carrying a fetus with congenital heart disease, five women of children (4−16 months) with congenital heart disease, and five paediatric cardiology medical providers. Responses were gathered via semi-structured interviews and analysed using qualitative thematic analysis.

Information regarding four broad areas were analysed of emotional distress during pregnancy; experience of initial diagnosis; coping and resilience; and perspectives on a mental health intervention in pregnancy. Anxiety regarding baby’s future, guilt following diagnosis, and various coping strategies emerged as primary themes among the participant sample. Medical staff corroborated mothers’ heightened anxiety and viewed a psychotherapeutic intervention during the prenatal period as essential and complimentary to standard of care.

We identified salient themes and preferred components for a future psychological intervention delivered prenatally.

Patients’ and providers’ perspectives regarding the nature of maternal distress, resilience and treatment preferences can inform the development of interventions to support the emotional well-being of pregnant women carrying a fetus with congenital heart disease to optimise care and potentially improve outcomes for fetal brain development.

Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome.

We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan–Meier curves were derived for survival data and freedom from intervention.

Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001).

In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.

Non-invasive prenatal testing (NIPT) is increasingly being adopted as a screening test in the UK and is currently accessed through certain National Health Service healthcare systems or by private provision. This audit aims to describe reasons for and results of cytogenomic investigations carried out within UK genetic laboratories following an NIPT result indicating increased chance of cytogenomic abnormality (‘high-chance NIPT result’).

A questionnaire was sent out to 24 genetics laboratories in the UK and completed by 18/24 (75%).

Data were returned representing 1831 singleton pregnancies. A total of 1329 (73%) invasive samples were taken following NIPT results showing a high chance of trisomy 21; this was confirmed in 1305 (98%) of these by invasive sampling. Trisomy 21 was confirmed in >99% of patients who also had high-screen risk results or abnormal scan findings. Amongst invasive samples taken due to NIPT results indicating a high chance of trisomy 18, 84% yielded a compatible result, and this number dropped to 49% for trisomy 13 and 51% for sex chromosomes.

In the UK, the majority of patients having invasive sampling for high-chance NIPT results are doing so following an NIPT result indicating an increased chance of common trisomies (92%). In this population, NIPT performs particularly well for trisomy 21, but less well for other indications.

Physicians' attitudes and adoption behavior toward the delivery of prenatal tests take vital significance for its influence on their professional practice and patient acceptance. This study aimed to identify how physicians have perceived the diffusion of non-invasive prenatal testing (NIPT) in China.

A cross-sectional study was conducted from July 2016 to October 2016 in Shanghai, and Fujian and Sichuan Provinces in China. Physicians working on prenatal screening completed a self-report questionnaire. Following Roger's diffusion of innovation model, multivariable logistic regressions were performed separately for the following key elements of the theory which influence diffusion: physician-perceived attributes of NIPT, communication channels, the nature of the social system, the extent of change agent (who introduces innovations into a society), promotion efforts, and physicians' benefits from adopting NIPT.

Most specialists had a positive attitude (53.2 percent) toward NIPT, whereas 58.9 percent of physicians had already adopted NIPT in their clinical practice. Physician adoption of NIPT was positively associated with the strength of HTA evidence (p = .03), perceived communication frequency with colleagues (p = .04), adoption by other physicians (p = .07), hospital competition (p = .06), hospital teaching status (p = .02), perceived for-profit genetic testing company's promotion (p < .001), and perceived clinical practice skill improvement (p = .02). However, the adoption behavior toward NIPT may be negatively associated with physician-perceived ethical concerns of NIPT (p = .06).

Obstetricians and gynecologists’ positive perceptions facilitate the adoption of NIPT. Combined with cost-effectiveness analysis of prenatal screening methods, health policy makers can promote the adoption of appropriate, cost-effective prenatal screening in pregnant women.

Hypoplastic left heart syndrome is a single ventricle defect. While staged surgical palliative treatments have revolutionised care, patients with hypoplastic left heart syndrome continue to have significant morbidity and mortality. In 2017, the National Pediatric Cardiology Quality Improvement Collaborative recommended all single ventricle patients to receive a prenatal palliative care consult. This study aimed to elucidate provider perspectives on the implementation of prenatal palliative care consults for families expecting a child with hypoplastic left heart syndrome.

An online survey was administered to obstetric and paediatric providers of relevant disciplines to assess their experience with palliative care involvement in hypoplastic left heart syndrome cases.

Nearly, all physicians (97%) and most registered nurses (79%) agreed that the initial palliative care consult for patients with hypoplastic left heart syndrome should occur during the prenatal period. Respondents also indicated that prenatal palliative care consults should also be offered in a variety of other CHD conditions. Participants believed positive aspects of this new referral protocol included an expanded support network for families, decreased family stress during the postnatal period, increased patient education about what to expect during the postnatal period, and continuity of care.

Multidisciplinary healthcare professionals believe that prenatal palliative care consults provide a variety of benefits for patients and families with hypoplastic left heart syndrome. Additional, multi-centre research is necessary to evaluate whether prenatal palliative care consults should become standard of care for families expecting a child with a single ventricle defect.

Prenatal diagnosis and planned peri-partum care is an unexplored concept for care of neonates with critical CHDs in low-middle-income countries.

To report the impact of prenatal diagnosis on pre-operative status in neonates with critical CHD.

Prospective observational study (January 2017–June 2018) in tertiary paediatric cardiac facility in Kerala, India. Neonates (<28 days) with critical CHDs needing cardiac interventions were included. Pre-term infants (<35 weeks) and those without intention to treat were excluded. Patients were grouped into those with prenatal diagnosis and diagnosis after birth. Main outcome measure was pre-operative clinical status.

Total 119 neonates included; 39 (32.8%) had prenatal diagnosis. Eighty infants (67%) underwent surgery while 32 (27%) needed catheter-based interventions. Pre-operative status was significantly better in prenatal group; California modification of transport risk index of physiological stability (Ca-TRIPS) score: median 6 (0–42) versus 8 (0–64); p < 0.001; pre-operative assessment of cardiac and haemodynamic status (PRACHS) score: median 1 (0–4) versus 3 (0–10), p < 0.001. Age at cardiac procedure was earlier in prenatal group (median 5 (1–26) versus 7 (1–43) days; p = 0.02). Mortality occurred in 12 patients (10%), with 3 post-operative deaths (2.5%). Pre-operative mortality was higher in postnatal group (10% versus 2.6%; p = 0.2) of which seven (6%) died due to suboptimal pre-operative status precluding surgery.

Prenatal diagnosis and planned peri-partum care had a significant impact on the pre-operative status in neonates with critical CHD in a low-resource setting.

A diagnosis of congenital heart disease (CHD) in offspring triggers psychological distress in parents. Results of previous studies have been inconsistent regarding the psychological impact of a prenatal versus a postnatal diagnosis. The aim of this study was to evaluate the influence of the time of diagnosis on levels of parental distress.

Pregnant women and their partners with a fetus diagnosed with complex CHD, parents of children with postnatally diagnosed CHD, and pregnant women and their partners with uncomplicated pregnancies were invited to participate. Data were collected during pregnancy and 2–6 months after delivery using the Hospital Anxiety and Depression Scale, sense of coherence, life satisfaction, and Dyadic Adjustment Scale.

During pregnancy, the prenatal group scored lower sense of coherence compared to controls (p=0.044). Postnatally the prenatal group scored lower on sense of coherence compared to the postnatal group and controls (p=0.001; p=0.001). Postnatally, the prenatal and postnatal groups had higher levels of anxiety compared to controls (p=0.025; p=0.0003). Life satisfaction was lower in the prenatal group compared to that in the postnatal group and in controls (p=0.000; p=0.0004).

Parents with a prenatal diagnosis of CHD in offspring report a low sense of coherence already during pregnancy which decreased further at follow-up. The same group reported a lower satisfaction with life compared to parents of a child with postnatal diagnosis of CHD and parents of a healthy child. This motivates further efforts to improve counselling and support during pregnancy and for parents after a prenatal diagnosis.