Prenatal Diagnosis Of Congenital Heart Disease Research Articles

Impact of isolated fetal congenital heart disease on pregnancy and perinatal outcomes.

The aim of the present study was to evaluate the obstetric complications associated with isolated fetal congenital heart disease (CHD) by comparing pregnancies with and without this condition. In this retrospective matched comparative study at Siriraj Hospital, Thailand, we included 233 postnatally confirmed fetal CHD cases and 466 unaffected fetuses. Controls were selected at a 2:1 ratio, ensuring that they matched the cases in terms of maternal age, parity, and history of preterm deliveries. Fetal CHD was significantly associated with an increased risk of spontaneous preterm labor (30% vs 9.7%; adjusted odds ratio [aOR] 2.42; 95% confidence interval [CI]: 1.35-4.36; P = 0.003), delivery before 34 gestational weeks (11.6% vs 0.6%; aOR 12.33; 95% CI: 3.32-45.78; P < 0.001), and pre-eclampsia (11.6% vs 2.8%; aOR 2.19; 95% CI: 1.01-4.76; P = 0.047). Newborns with CHD were significantly more likely to be small for gestational age (10.7% vs 5.2%; aOR 2.09; 95% CI: 1.11-3.94; P = 0.022). Intriguingly, a prenatal diagnosis of CHD was associated with a reduced risk of preterm delivery in affected pregnancies (P = 0.002). Pregnancies affected by isolated fetal CHD demonstrated a higher propensity for several adverse outcomes. These findings underscore the importance of prenatal CHD detection and tailored perinatal care to potentially improve both pregnancy outcomes and neonatal health.

Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?

To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk of genetic abnormalities in the setting of congenital heart disease (CHD). This was a retrospective cohort study involving pregnancies that met the following criteria: (i) prenatal diagnosis of CHD, (ii) singleton live-birth, and (iii) genetic testing was performed either pre- or postnatally. Genetic results were reviewed by a clinical geneticist for updated variant classification. Fetal growth was stratified as appropriate for gestational age (AGA) or FGR. Of the total of 445 fetuses that met the study criteria, 325 (73.0%) were AGA and 120 (27.0%) were FGR. Genetic abnormalities were detected in 131 (29.4%) pregnancies. There was a higher rate of genetic abnormalities (36.7% vs. 26.8%, p=0.04), which was driven by aneuploidies (20.8% vs. 8.9%, p=0.0006) in the FGR population. Early onset growth restriction was associated with a higher rate of genetic abnormalities (44.5% vs. 25.9%, p=0.03). The rate of genetic abnormalities was significantly higher in the shunt category as compared to remainder of the cardiac anomalies (62.5% in shunt lesions vs. 24.7%, p<0.00001). The rates of FGR (40.9% vs. 21.4%, p<0.0001) and genetic abnormalities (52% vs. 20.4%, p<0.0001) were significantly higher in the presence of extra-cardiac anomalies (ECA). The presence of FGR in fetal CHD population was associated with underlying genetic abnormalities, specifically aneuploidies. Patients should be appropriately counseled regarding the higher likelihood of a genetic condition in the presence of FGR, early onset FGR, shunt lesions and ECA.

Applications of artificial intelligence-powered prenatal diagnosis for congenital heart disease.

Artificial intelligence (AI) has made significant progress in the medical field in the last decade. The AI-powered analysis methods of medical images and clinical records can now match the abilities of clinical physicians. Due to the challenges posed by the unique group of fetuses and the dynamic organ of the heart, research into the application of AI in the prenatal diagnosis of congenital heart disease (CHD) is particularly active. In this review, we discuss the clinical questions and research methods involved in using AI to address prenatal diagnosis of CHD, including imaging, genetic diagnosis, and risk prediction. Representative examples are provided for each method discussed. Finally, we discuss the current limitations of AI in prenatal diagnosis of CHD, namely Volatility, Insufficiency and Independence (VII), and propose possible solutions.

Psychological Impact of a Prenatal Diagnosis of Congenital Heart Disease on Parents: Is It Time for Tailored Psychological Support?

The prenatal diagnosis of congenital heart disease (CHD) represents, for both parents, a particularly stressful and traumatic life event from a psychological point of view. The present review sought to summarize the findings of the most relevant literature on the psychological impact of prenatal diagnosis of CHD on parents, describing the most common mechanisms employed in order to face this unexpected finding. We also highlight the importance of counseling and the current gaps in the effects of psychological support on this population.

Neurodevelopmental outcomes in congenital heart disease: usefulness of biomarkers of brain injury

IntroductionAt present, neurodevelopmental abnormalities are the most frequent type of complication in school-aged children with congenital heart disease (CHD). We analysed the incidence of acute neurologic events (ANEs) in patients with operated CHD and the usefulness of neuromarkers for the prediction of neurodevelopment outcomes. MethodsProspective observational study in infants with a prenatal diagnosis of CHD who underwent cardiac surgery in the first year of life. We assessed the following variables: 1) serum biomarkers of brain injury (S100B, neuron-specific enolase) in cord blood and preoperative blood samples; 2) clinical and laboratory data from the immediate postnatal and perioperative periods; 3) treatments and complications; 4) neurodevelopment (Bayley-III scale) at age 2 years. Resultsthe study included 84 infants with a prenatal diagnosis of CHD who underwent cardiac surgery in the first year of life. Seventeen had univentricular heart, 20 left ventricular outflow obstruction and 10 genetic syndromes. The postoperative mortality was 5.9% (5/84) and 10.7% (9/84) patients experienced ANEs. The mean overall Bayley-III scores were within the normal range, but 31% of patients had abnormal scores in the cognitive, motor or language domains. Patients with genetic syndromes, ANEs and univentricular heart had poorer neurodevelopmental outcomes. Elevation of S100B in the immediate postoperative period was associated with poorer scores. Conclusionschildren with a history of cardiac surgery for CHD in the first year of life are at risk of adverse neurodevelopmental outcomes. Patients with genetic syndromes, ANEs or univentricular heart had poorer outcomes. Postoperative ANEs may contribute to poorer outcomes. Elevation of S100B levels in the postoperative period was associated with poorer neurodevelopmental outcomes at 2 years. Studies with larger samples and longer followups are needed to define the role of these biomarkers of brain injury in the prediction of neurodevelopmental outcomes in patients who undergo surgery for management of CHD.

Prenatal Diagnosis of Congenital Heart Disease and Voluntary Termination of Pregnancy: A Population-Based Study in Qingdao, China.

The outcomes of fetuses with isolated congenital heart disease (CHD) diagnosed prenatally have not been investigated in a population-based study in China. This population-based study aimed to evaluate the rate of voluntary termination of pregnancy after the prenatal diagnosis of isolated CHD in Qingdao, China. This was a population-based retrospective study in which data were collected from all pregnant women in Qingdao (eastern China) from August 2018 to July 2020; fetal data, maternal data and data on pregnancy outcomes were extracted from medical records regarding prenatal diagnosis of CHD. The inclusion criteria were as follows: pregnant women or their husbands who had a household registration in Qingdao and who underwent regular prenatal screening in Qingdao. The exclusion criterion was the failure to sign an informed consent form. Counseling for all parents of fetuses with CHD was provided by a multidisciplinary team of experienced pediatric cardiologists, obstetricians, geneticists, etc. According to the type and severity of CHD, the pregnancy termination rate was analyzed. Among the 126,843 pregnant women, 1299 fetuses with a prenatal diagnosis of CHD were included in the study. Among the included fetuses, 1075 were diagnosed with isolated CHD, and the overall pregnancy termination rate was 22.8%. Termination rates varied according to the complexity of CHD (low complexity vs moderate complexity, P=0.000; low complexity vs high complexity, P=0.000; moderate complexity vs high complexity, P=0.000), with rates of 6.0% for low complexity, 54.2% for moderate complexity, and 99.1% for high complexity. The decision to terminate the pregnancy in cases of isolated CHD was unrelated to maternal age (P=0.091) but was related to gestational age (p=0.000). In Qingdao, 99.1% of parents whose fetuses were diagnosed with isolated high-complexity CHD chose to voluntarily terminate the pregnancy. The pregnancy termination rate increased with increasing complexity of prenatally diagnosed CHD.

Neurodesarrollo a los 2 años en cardiopatía congénita: utilidad pronóstica de los marcadores de daño cerebral

IntroductionAt present, neurodevelopmental abnormalities are the most frequent type of complication in school-aged children with congenital heart disease (CHD). We analysed the incidence of acute neurologic events (ANEs) in patients with operated CHD and the usefulness of neuromarkers for the prediction of neurodevelopment outcomes. MethodsProspective observational study in infants with a prenatal diagnosis of CHD who underwent cardiac surgery in the first year of life. We assessed the following variables: (1) serum biomarkers of brain injury (S100B, neuron-specific enolase) in cord blood and preoperative blood samples; (2) clinical and laboratory data from the immediate postnatal and perioperative periods; (3) treatments and complications; (4) neurodevelopment (Bayley-III scale) at age 2 years. ResultsThe study included 84 infants with a prenatal diagnosis of CHD who underwent cardiac surgery in the first year of life. Seventeen had univentricular heart, 20 left ventricular outflow obstruction and 10 genetic syndromes. The postoperative mortality was 5.9% (5/84) and 10.7% (9/84) patients experienced ANEs. The mean overall Bayley-III scores were within the normal range, but 31% of patients had abnormal scores in the cognitive, motor or language domains. Patients with genetic syndromes, ANEs and univentricular heart had poorer neurodevelopmental outcomes. Elevation of S100B in the immediate postoperative period was associated with poorer scores. ConclusionsChildren with a history of cardiac surgery for CHD in the first year of life are at risk of adverse neurodevelopmental outcomes. Patients with genetic syndromes, ANEs or univentricular heart had poorer outcomes. Postoperative ANEs may contribute to poorer outcomes. Elevation of S100B levels in the postoperative period was associated with poorer neurodevelopmental outcomes at 2 years. Studies with larger samples and longer followups are needed to define the role of these biomarkers of brain injury in the prediction of neurodevelopmental outcomes in patients who undergo surgery for management of CHD.

Abstract 18375: Improving Rate of Prenatal Diagnosis of Critical Congenital Heart Disease Despite the Covid19 Pandemic: A Canadian Multiprovincial Study

Background Restriction to travel, reallocation of health resources and physical distancing during the COVID19 pandemic caused extraordinary health system strain, requiring limited tertiary referral acceptance. The overall impact of public health measures during COVID19 on diagnosis of congenital heart disease (CHD) has not been explored. We sought to determine the rate, timing of diagnosis and pregnancy outcomes of critical CHD prior to and during the COVID era. Methods: Cases of CHD with due date/birth date from 1 Jan 2016 to 1 Mar 2022 that required or were anticipated to require neonatal intervention were identified from surgical and referring centres in Ontario and Alberta. Pregnancies were categorized as reaching 18 weeks GA before (pre-COVID) or after 1 March 2020 (COVID). Outcomes included timing of diagnosis (pre/postnatal), GA at prenatal diagnosis, and pregnancy outcome. Data are presented as mean, 95% CI or median (IQR); rank-sum comparison of continuous variables or Chi 2 comparison of proportions were used. Results: Prenatal diagnosis occurred in 1240/1823 (68% (65.8, 70.1)) of cases of critical CHD overall, with a pre-COVID rate of 867/1305 - 66% (64, 69) and COVID rate of 373/518 - 72% (68, 76), p=0.02. During COVID, earlier median GA at obstetric ultrasound (median GA: pre-COVID 20.1 (19.1, 22), COVID 19.9 (19.1,21.3), p=0.025) and diagnosis of CHD (median GA: pre-COVID 21.7 (20.3, 24.3), COVID 21.3 (20,23.3), p=0.006) occurred. Prenatal diagnosis before 22 weeks GA (pre-COVID 449/851, 52.3% vs COVID 219/371, 59%; p=0.043) and termination were more common during COVID (pre-COVID 28% (25,31), COVID 35% (30,40) p=0.015). Conclusion The rate of prenatal diagnosis of critical CHD continued to improve during the COVID pandemic in two of Canada’s largest provinces. Unexpectedly, obstetric ultrasounds occurred earlier, leading to earlier prenatal diagnosis of CHD. These findings may have implications for referral practices in the post-COVID era.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

Prenatal Congenital Heart Disease—It Takes a Multidisciplinary Village

Prenatal diagnosis of congenital heart disease (CHD) allows for thoughtful multidisciplinary planning about location, timing, and need for medical interventions at birth. We sought to assess the accuracy of our prenatal cardiac diagnosis, and postnatal needs for patients with CHD utilizing a multidisciplinary approach. We performed a retrospective chart review of fetal CHD patients between 1/1/18 and 4/30/19. Maternal and infant charts were reviewed for delivery planning, subspecialty care needs, genetic evaluation, prenatal and postnatal cardiac diagnoses, need for prostaglandin (PGE) and neonatal cardiac intervention. 82 maternal-fetal dyads met inclusion criteria during the study period and delivered at a median of 38w2d gestation. 32 (39%) dyads had CHD and other anomalies or genetic abnormalities. All dyads met with a genetic counselor and neonatologist. 11 patients delivered at outside hospitals as planned (all with isolated CHD not requiring neonatal intervention), and 5 chose a palliative delivery. 30 patients were counseled to expect a neonatal cardiac intervention and 25 (83%) underwent an intervention within the expected time period. No neonates required an uncounseled cardiac intervention. 29 patients planned for PGE at birth and 31 received PGE. Of the 79 postnatal echocardiograms, 60 (76%) were entirely consistent with the fetal diagnosis. A multidisciplinary approach to the prenatal diagnosis of CHD in maternal-fetal dyads is optimal and utilizing this method we were able to accurately predict postnatal physiology and ensure that patients delivered in the correct location with an appropriate supportive structure in place.

Third Trimester Umbilical Arterial Pulsatility Index is Associated with Neurodevelopmental Outcomes at 2-Years in Major Congenital Heart Disease

Major congenital heart disease (CHD) is associated with impaired neurodevelopment (ND), partly from prenatal insults. In this study we explore associations between 2nd and 3rd trimester umbilical (UA) and middle cerebral artery (MCA) pulsatility index (PI = systolic-diastolic velocities/mean velocity) in fetuses with major CHD and 2-year ND and growth outcomes. Eligible patients included those with a prenatal diagnosis of CHD from 2007 to 2017 without a genetic syndrome who underwent previously defined cardiac surgeries and 2-year biometric and ND assessments in our program. UA and MCA-PI Z-scores at fetal echocardiography were examined for relationships with 2-year Bayley Scales of Infant and Toddler Development and biometric Z-scores. Data from 147 children was analyzed. Second and 3rd trimester fetal echocardiograms were performed at 22.4 ± 3.7 and 34.7 ± 2.9weeks (mean ± SD), respectively. Multivariable regression analysis showed an inverse relationship between 3rd trimester UA-PI for all CHD and cognitive -1.98 (-3.37, -0.59), motor -2.57 (-4.15, -0.99), and language -1.67 (-3.3, -0.03) (effect size and 95th confidence interval) ND domains (p < 0.05), with the strongest relationships in the single ventricle and hypoplastic left heart syndrome subgroups. No association was found for 2nd trimester UA-PI or any trimester MCA-PI and ND or between UA or MCA-PI and 2-year growth parameters. Increased 3rd trimester UA-PI, reflecting an altered late gestation fetoplacental circulation, relates to worse 2-year ND in all domains.

Maternal Reaction and Psychological Coping After Diagnosis of Congenital Heart Disease.

A diagnosis of congenital heart disease (CHD) during fetal life or infancy can be devastating for parents, resulting in significant psychological stressors. The goals of this study were to (1) assess maternal resolution and adaptation to a new diagnosis of CHD, (2) explore how maternal resolution and adaptation relates to psychological well-being and (3) evaluate whether specific illness parameters impact resolution status. This cross-sectional study evaluated resolution to diagnosis in the first 6 months of life for mothers of children with CHD. Mothers completed a Reaction to Diagnosis Interview (RDI) and psychological surveys assessing stress, depression, and coping skills. The RDI invites parents to discuss the diagnosis, changes in their thoughts and feelings since the diagnosis, and reflections on why they think they have a child with a medical condition. A chart review of the child recording illness parameters was also performed. Thirty-six mothers participated in this study. Twelve of their children had a prenatal diagnosis of CHD (33.3%). Seventeen mothers (47.2%) were unresolved to the diagnosis of CHD in their child, regardless of the timing or severity of the diagnosis. Twenty-four participants (68.6%) had significant or highly significant life stress and 9 participants (25.7%) had clinical concerns or met criteria for Post-Traumatic Stress Disorder. Nineteen mothers (55.9%) were at risk for clinical depression. Mothers unresolved to the diagnosis had higher rates of post-traumatic stress than those resolved to the diagnosis (47.1% vs. 10.5%, p = 0.03). Mothers of infants with a prenatal diagnosis of CHD reported significantly lower rates of life stress despite higher severity of heart defects (p = 0.02). Mothers of infants with CHD have similar proportions of resolution to diagnosis compared to mothers of children with other chronic diseases. They experience a high rate of symptoms of life stress, post-traumatic stress and clinical depression. Symptoms of post-traumatic stress are higher in mothers unresolved to the diagnosis. Identification of those at highest risk for poor adaptation to the diagnosis may allow for targeted psychological support services for those most vulnerable.

The Impact of Neighborhood Socioeconomic Status, Race and Ethnicity, and Language on Prenatal Diagnosis of CHD.

Congenital heart disease (CHD) is the most prevalent birth defect. This study aimed to assess whether prenatal diagnosis (PD) of CHD and time of the diagnosis are associated with maternal race, ethnicity, neighborhood SES, and language. In this retrospective cohort study, we analyzed data on 163 patients who underwent surgical intervention for CHD within 30days of birth between 2011 and 2020 at the University of Maryland Children's Hospital. A neighborhood SES score was calculated using the mother's address at time of discharge and 6 SES variables from the US Census block group data with a previously published method by Diez Roux et al. Neighborhood SES did not impact the likelihood of receiving a PD of CHD; however, patients of Latino ethnicity were 3.2 times and non-English-preferred language patients were 5.1 times more likely to not receive a PD. Patients whose preferred language was a non-English language received a prenatal diagnosis 5.3weeks later, resulting in the PD being made in the third trimester rather than the second. Patients from the highest quartile SES received an earlier prenatal diagnosis, although this association was less significant when controlling for insurance type and preferred language. Significant disparities in PD of CHD were seen in patients of Latino ethnicity and patients who prefer non-English language. Better understanding of the root causes of these disparities will be important to guide interventions to reduce these disparities.

Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery

Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Congenital heart disease (CHD) is the most common structural abnormality in patients with ARSA. We aimed to assess the prevalence of genetic abnormalities, particularly sequence variants, in fetuses with CHD and ARSA. By clinical phenotyping and genomic sequencing, we retrospectively reviewed all fetuses with a prenatal diagnosis of CHD combined with ARSA at a single center. As a result, we identified 30 fetuses with ARSA combined with CHD, with conotruncal anomalies being the most common (n = 12, 40%), followed by left ventricular outflow tract obstruction (n = 6, 20%) and atrioventricular septal defects (n = 6, 20%). Overall, 18 (60%) cases had a genetic diagnosis. Copy number variation sequencing analysis identified six (20%) fetuses with aneuploidy and seven (23%) with pathogenic copy-number variants. Whole-exome sequencing (WES) analysis of the remaining 17 cases revealed diagnostic genetic variants in five (29%) cases, indicating that the diagnostic yield of WES for the entire cohort was 17% (5/30). Our findings reveal the high burden of genetic abnormalities in fetal CHD with ARSA. Single-gene disorders contribute substantially to the genetic etiology of fetal CHD with ARSA.

Impact of maternal social vulnerability and timing of prenatal care on outcome of prenatally detected congenital heart disease.

Early prenatal detection of congenital heart disease (CHD) allows mothers to plan for their pregnancy and delivery; however, the effect of certain sociodemographic and fetal factors on prenatal care has not been investigated thoroughly. This study evaluated the impact of maternal and fetal characteristics on the timing of prenatal diagnosis of CHD and fetal and postnatal outcomes. This retrospective multicenter cohort study included women with a fetal echocardiographic diagnosis of CHD between 2010 and 2019. Women were grouped into quartiles of social vulnerability (quartiles 1-4; low-high) using the 2014 social vulnerability index (SVI) provided by the Centers for Disease Control and Prevention. A fetal disease severity score (range, 1-7) was calculated based on a combination of CHD severity (mild = 1; moderate = 2; severe, two ventricles = 3; severe, single ventricle = 4 points) and prenatally diagnosed genetic abnormality, non-cardiac abnormality and fetal hydrops (1 point each). Late diagnosis was defined as a fetal echocardiographic diagnosis of CHD after 24 weeks' gestation. Univariate and multivariable regression analyses were used to identify factors associated with late diagnosis, termination of pregnancy (TOP), postnatal death, prenatal-postnatal discordance in CHD diagnosis and severity and, for liveborn infants, to identify which prenatal variables were associated with postnatal death or heart transplant. Among 441 pregnancies included, 94 (21%) had a late diagnosis of CHD. Late diagnosis was more common in the most socially vulnerable quartile, 38% of women in this group having diagnosis > 24 weeks, compared with 14-18% in the other three quartile groups. Late diagnosis was also associated with Catholic or other Christian religion vs non-denominational or other religion and with a lower fetal disease severity score. There were 93 (21%) TOP and 26 (6%) in-utero fetal demises. Factors associated with TOP included early diagnosis and greater fetal disease severity. Compared with the other quartiles, the most socially vulnerable quartile had a higher incidence of in-utero fetal demise and a lower incidence of TOP. Among the 322 liveborn infants, 49 (15%) died or underwent heart transplant during the follow-up period (range, 0-16 months). Factors associated with postnatal death or heart transplant included longer delay between obstetric ultrasound examination at which CHD was first suspected and fetal echocardiogram at which CHD was confirmed and greater fetal disease severity. High social vulnerability, Catholic or other Christian religion and low fetal disease severity are associated with late prenatal CHD diagnosis. Delays in CHD diagnosis are associated with fewer TOPs and worse postnatal outcome. Therefore, efforts to expedite fetal echocardiography following abnormal obstetric screening, particularly for at-risk women (e.g. those with high SVI), have the potential to impact pregnancy and postnatal outcome among the prenatally diagnosed CHD population. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Fetal congenital heart disease - mode of delivery and obstetrical complications

BackgroundThe optimal mode of delivery in cases of fetal congenital heart disease (CHD) is not established. The few relevant studies did not address operative vaginal delivery. The aim of this study was to assess the impact of fetal CHD on mode of delivery during a trial of labor, and to secondarily describe some obstetric complications.MethodsThe database of a tertiary medical center was searched for women who gave birth to a singleton, liveborn neonate in 2015–2018. Mode of delivery was compared between women carrying a fetus with known CHD and women with a healthy fetus matched 1:5 for maternal age, parity, body mass index, and gestational age.ResultsThe cohort included 616 women, 105 in the CHD group and 511 in the control group. The rate of operative vaginal delivery was significantly higher in the CHD group (18.09% vs 9.78%, OR 2.03, 95% CI 1.13–3.63, p = 0.01); the difference remained significant after adjustment for nulliparity and gestational age at delivery (aOR 2.58, 95% CI 1.36–4.9, p < 0.01). There was no difference between the CHD and control group in rate of intrapartum cesarean delivery (9.52% vs 10.76%, respectively, OR 0.97, 95% CI 0.47–1.98, p = 0.93). The most common indication for operative vaginal delivery was non-reassuring fetal heart rate (78.94% vs 64%, respectively). Median birth weight percentile was significantly lower in the CHD group (45th vs 53rd percentile, p = 0.04).ConclusionsOur findings suggest that operative vaginal delivery, performed mostly because of non-reassuring fetal heart rate, is more common in pregnancies complicated by a prenatal diagnosis of CHD than non-anomalous pregnancies.

Improvement of diagnostic efficiency in fetal congenital heart disease using fetal intelligent navigation echocardiography by less-experienced operators.

This study investigated the feasibility and accuracy of fetal intelligent navigation echocardiography (FINE) for the prenatal diagnosis of congenital heart disease (CHD) by inexperienced and experienced operators. In this prospective study, all volume data sets from 120 fetuses with a broad spectrum of CHD were acquired using spatiotemporal image correlation technology. The prenatal diagnostic procedures were performed by two operators with different experience (beginner: 1year and expert: 15 years) using FINE and traditional fetal echocardiography. Data were analyzed on the time of examination and acquisition of results. Diagnoses made by FINE and traditional echocardiography were completely consistent with the final diagnosis of CHD in 98 (81.66%) versus 20 (16.66%) (P< 0.001) beginners and 87.50% (n= 105) versus 101 (84.16%) experts, respectively. On the contrary, there was significant difference using traditional echocardiography (16.66% versus 84.16%, P< 0.001) by two examiners. Furthermore, the examination time decreased when using FINE compared with using traditional echocardiography (beginner operators: 4.54 ± 1.03 min versus 20.58 ± 3.36 min, P< 0.001; expert operators: 3.89 ± 0.96 min versus 12.73 ± 1.62 min, P< 0.001). Based on our results, a prenatal diagnosis of CHD can be made with high feasibility and accuracy using FINE compared with traditional fetal echocardiography for beginner operators.

Artificial intelligence in perinatal diagnosis and management of congenital heart disease

Prenatal diagnosis and management of congenital heart disease (CHD) has progressed substantially in the past few decades. Fetal echocardiography can accurately detect and diagnose approximately 85% of cardiac anomalies. The prenatal diagnosis of CHD results in improved care, with improved risk stratification, perioperative status and survival. However, there is much work to be done. A minority of CHD is actually identified prenatally. This seemingly incongruous gap is due, in part, to diminished recognition of an anomaly even when present in the images and the need for increased training to obtain specialized cardiac views. Artificial intelligence (AI) is a field within computer science that focuses on the development of algorithms that “learn, reason, and self-correct” in a human-like fashion. When applied to fetal echocardiography, AI has the potential to improve image acquisition, image optimization, automated measurements, identification of outliers, classification of diagnoses, and prediction of outcomes. Adoption of AI in the field has been thus far limited by a paucity of data, limited resources to implement new technologies, and legal and ethical concerns. Despite these barriers, recognition of the potential benefits will push us to a future in which AI will become a routine part of clinical practice.

Impact of perinatal management on neurodevelopmental outcomes in congenital heart disease

With advancements in cardiopulmonary bypass technique and perioperative care, there has been a progressive decline in mortality associated with neonatal surgical correction of congenital heart disease (CHD). Thus, there is now increased focus on improving neurodevelopmental outcomes in CHD survivors. While the cause of these neurodevelopmental impairments is multifactorial, there is increasing evidence that structural and functional cerebral abnormalities are present before cardiac corrective repair. This suggests that in addition to patient specific risk factors, underlying cardiac physiology and clinical hemodynamics are critical to brain health and development. Prenatal diagnosis of CHD and subsequent optimization of perinatal care may therefore be important modifiable factors for long-term neurodevelopmental outcome.This article reviews the impact that prenatal diagnosis of CHD has on perinatal care and the preoperative clinical status of a neonate, as well as the potential influence this may have on lessening the degree of cerebral injury and long-term neurodevelopmental impairments.

Maternal serum Lamin A is a potential biomarker that can predict adverse pregnancy outcomes.

SummaryBackgroundMaternal serum Lamin A (LMNA) was reported to have potential diagnostic value in the prenatal diagnosis of congenital heart disease (CHD). In this study, we aimed to further assess the prognostic value of maternal serum LMNA in predicting adverse pregnancy outcomes.MethodsA prospective screening study was performed on singleton pregnancies at 15–18 weeks of gestation. After a routine test for alpha fetoprotein (AFP), chorionic gonadotropin (hCG), and unconjugated estriol (uE3), serum LMNA levels were measured. Serum LMNA levels were then converted into multiples of the median (MoM). The median MoM values for adverse pregnancy outcomes were compared with those in normal pregnancies. For diseases with differential LMNA expression in the prospective study, another case-control cohort was recruited. The diagnostic value of LMNA in these diseases was further evaluated.FindingsBetween January 1, 2017 and June 30, 2018, a total of 2906 singleton pregnancies were recruited. Of the 2,906 cases, 2711 had data available for analysis. Congenital structural abnormalities, chromosomal abnormalities, and obstetric complications were observed in 152 (5·6%), 15 (0·6%), and 278 (10·3%) patients, respectively. LMNA was downregulated in pregnancies with fetal CHD, fetal neural tube defects (NTD), and preeclampsia (PE). The case-control study cohort included 256 CHD, 60 NTD, 67 PE, and 400 normal pregnancies. The areas under the curve for the prenatal diagnoses of CHD, NTD, and PE were 0·875, 0·871, and 0·816, respectively.InterpretationMaternal serum LMNA was found to be a potential biomarker for the prenatal diagnosis of fetal CHD, NTD, and PE.FundingNational Key Research and Development Program, National Natural Science Foundation of China, LiaoNing Revitalization Talents Program, National Natural Science Foundation of Liaoning, and 345 Talent Project of Shengjing Hospital.