Postnatal Diagnosis Group Research Articles

Prenatal Detection of D-TGA and Novel Interventional Program Decrease Time to Balloon Septostomy.

Infants with dextro-transposition of the great arteries (d-TGA) are at high risk for hemodynamic compromise in the immediate postnatal period due to dependence on intracardiac mixing for oxygen delivery. This period of profound hypoxemia may have long-term implications, as previous studies demonstrated patients with d-TGA are at increased risk for neurocognitive delays despite effective surgical correction in the neonatal period. Balloon atrial septostomy (BAS) is an established intervention that improves intracardiac mixing and perioperative hemodynamics. This retrospective study aimed to quantify the time from birth to BAS and compare short-term outcomes for patients with prenatal and postnatal diagnoses of d-TGA. We identified 68 newborns born with d-TGA who were admitted to our facility between 2013 and 2022 and required BAS within 48h after birth. Halfway through this study, our cardiac interventional team began traveling to a nearby delivery center where a bedside BAS could be performed prior to transferring the patient. We divided the patients into 3 groups-postnatal diagnosis (n = 27), prenatal diagnosis with rapid transport (n = 24), and prenatal diagnosis with interventional team performing a BAS at the delivery hospital (n = 17). The time from birth to BAS was significantly shorter for patients in the interventional program group (1.1h) compared to the rapid transport (4.5h) and postnatal diagnosis groups (9.3h, p value < 0.01). The interventional program group also had lower lactate levels and less acidotic pH compared to the other groups. There was no significant difference in lowest oxygen saturation level, pre-surgical neurologic complication rate, time to surgery, or hospital length of stay. The interventional program proved to be a safe and effective model, as there were no procedural complications and the time to BAS decreased. Long-term follow-up is needed to determine if abating this initial period of hemodynamic instability will lead to improved neurodevelopmental outcomes.

The implications of an integrated management model of prenatal diagnosis/postnatal treatment for premature infants with critical congenital heart disease-a case-control study.

The high death rate and medical costs of critical congenital heart disease (CCHD) in preterm infants has resulted in significant burdens on both countries and individuals. It is unclear how this affects the mortality of the integrated management model of prenatal diagnosis/postnatal treatment. This study explored the effects of the delivery classification scale for fetal heart and postnatal infants' CCHD on prenatal and postnatal integrated treatment strategies to improve the effectiveness of disease management in CCHD. This study was a case-control study, which retrospectively analyzed the clinical data of 79 preterm infants (<37 weeks) who underwent prenatal diagnosis and postpartum treatment in Guangdong Provincial People' s Hospital (China) from June 2017 to June 2019. According to the diagnostic and exclusion criteria, the subjects were divided into prenatal and postpartum diagnostic groups. The clinical characteristics and survival outcomes of patients were collected and compared. The delivery classification scale was used for risk stratification and patient management. Among the 79 patients included in this study, 48 (60.76%) were diagnosed prenatally, and 31 (39.24%) were diagnosed postpartum. The prenatal diagnosis group was born slightly earlier during the gestation period [35.00 (33.29-35.86) vs. 35.57 (34.14-36.71) weeks, P<0.05], and their mothers were older (33.23±5.22 vs. 30.43±6.37 years, P<0.05). The difference in the admission age between the groups was statistically significant [0 (0-5.5) vs. 7 (5-16) days, P<0.001]. The median survival time of the prenatal diagnosis group was higher than the postnatal diagnosis group [48 months (95% CI: 40.78-57.29) vs. 39 months (95% CI: 34.41-44.32), P<0.05]. The 3-year survival rates of the classes I, II, and III were 92.31% (12/13), 59.09% (13/22), and 38.46% (5/13), respectively. The survival of class I as denoted in the delivery classification scale was better than classes II or III (class I vs. II, P<0.05; class I vs. III, P<0.05). Unexpectedly, the hospitalisation costs were lower and total in-hospital days were shorter in the postnatal diagnosis group. The results indicated that the integrated management of a prenatal diagnosis/postnatal treatment approach in premature infants may be effective. Furthermore, the delivery classification scale has a particular prognostic value for CCHD. The authors anticipate that their management model will be able to contribute to the shift from a reactive monodisciplinary system to a proactive, multidisciplinary and dynamic management paradigm in premature infants with CCHD in the near future.

Integrative Perinatal Management Enhanced the Advantage of Prenatal Diagnosis on Critical Pulmonary Valve Stenosis: An Observational Preliminary Study.

Background: Percutaneous balloon valvuloplasty (PBPV) is recommended as a first-choice treatment for critical pulmonary stenosis (CPS). A concept of perinatal integrative management has been developed. Unfortunately, the evidence on the advantage of integrative management for CPS during the perinatal period is absent.Methods: Single-center, observational, preliminary research has been developed, and three groups have been enrolled. There were 42 children with CPS enrolled for this study between January 2014 and December 2017 in our center, and their follow-up duration is at least 1 year. Three groups were set up: the integrative perinatal management group (group I), who received prenatal diagnosis with perinatal management to maintain circulation and an optimized PBPV procedure; the prenatal diagnosis group (group PR), who received a diagnosis of pulmonary stenosis before birth without any monitoring and perinatal management; and the postnatal diagnosis group (group PO), who received the CPS diagnosis after birth.Result: There were 13 patients enrolled in group I, 11 babies enrolled in group PR, and 18 cases included in group PO. Integrative management helped to put the timing of PBPV in advance. The age for PBPV in group I was 9.38 ± 5.58 days, and groups PR and PO were 24.54 ± 4.87 and 49.11 ± 9.50 days, respectively. The average peak transvalvular gradient (PGs) of the perinatal management group (group I) and prenatal diagnosis group (group PR) remained at a stable level. However, the average PGs of group PO were progressively elevated during follow-up. Moreover, the follow-up data from group I revealed an advantage in RV development and functional restoration. There was no difference among the three groups in the ratio of reintervention and postoperative moderate pulmonary regurgitation during 1-year follow-up (p >0.05).Conclusion: Prenatal diagnosis helps to improve the outcomes of PBPV. Moreover, perinatal integrative medical management enhances the advantage of prenatal diagnosis. However, this research is still a small-size cohort study, and the limited population number and follow-up duration were the major limitations to expand the conclusions.

Management of patients with placenta accreta spectrum disorders who underwent pregnancy terminations in the second trimester: A retrospective study

PurposeTo analyse the management of patients with placenta accreta spectrum (PAS) disorders who underwent 2nd trimester pregnancy terminations. MethodThe records of patients with PAS disorders who underwent 2nd trimester pregnancy terminations were collected and analysed. ResultsTwenty-eight patients were included; 8 (28.6%) patients received prenatal diagnoses and 20 (71.4%) patients received postnatal diagnoses. In the prenatal diagnosis group, scheduling hysterotomy and placenta removal were performed in 5 patients with complete placenta previa and previous caesarean delivery without hysterectomy or postpartum haemorrhage, and medical termination was performed in 3 patients, 2 of whom retained the placenta in situ. In the postnatal diagnosis group, the placenta remained in situ in 11 patients, and in 13 (46.4%) patients overall, adjuvant treatments were applied to the patients, and the abnormally implanted placenta was passed 43.5 (range: 7–102) days after termination. A complication associated with the placenta left in situ included intrauterine infection in one case. Uterus preservation was achieved in all the patients. ConclusionsFor patients with PAS disorders with complete placenta previa and previous caesarean delivery, hysterotomy is a safe choice for terminating a 2nd trimester pregnancy. When it is impossible to manually remove the placenta, leaving the placenta in situ with the administration of adjuvant treatment is a good choice for uterus preservation.

Prognosis of severe congenital heart diseases: Do we overestimate the impact of prenatal diagnosis?

Prenatal diagnosis of congenital heart disease (CHD) is controversial because of unclear benefits in terms of morbidity and mortality, and issues with healthcare costs and organization. To compare, in children with severe CHD, 1-year morbidity and mortality between prenatal and postnatal diagnosis groups. All pregnancies and children aged<1 year with a diagnosis of severe CHD were collected over a 5-year period from our database. Severe CHDs were defined as lethal cases, cases leading to medical termination of pregnancy, or children requiring surgery and/or interventional catheterization and/or hospitalization during their first year of life. The primary endpoint was 1-year mortality rate among live births. Overall, 322 cases of severe CHD were identified; 200 had a prenatal diagnosis and there were 97 terminations of pregnancy. Of the 225 live births, 34 died before the age of 1 year. The 1-year mortality rate was not significantly different between prenatal and postnatal groups (16.7% vs. 13.9%; p=0.13). In the prenatal group, prostaglandin use was more important and precocious, duration of hospitalization stay was longer, extracardiac complications were less common and cardiac surgery was performed more frequently and later. An association with chromosomal or syndromic anomalies was a risk factor for 1-year mortality. Prenatal diagnosis of severe CHD had an impact on the decision regarding termination of pregnancy, but not on the 1-year prognosis among live births. We should now use large multicentre CHD registries to determine the impact of prenatal diagnosis on postnatal management, neurological prognosis and quality of life.

Outcome and Associated Findings in Individuals with Pre- and Postnatal Diagnosis of Tetralogy of Fallot (TOF) and Prediction ofEarly Postnatal Intervention.

The aim of our retrospective evaluation was to compare the outcome of patients with prenatal and postnatal diagnosis of Tetralogy of Fallot (TOF) and to analyze prenatal echocardiographic parameters predicting intervention within 30 days postnatal. We evaluated 142 patients in our pediatric heart center and prenatal diagnosis center and prenatal practice Praenatal plus in Cologne between 01/08-06/16. Within the prenatal diagnosis group, 6/74 fetuses (8.1 %) had TOF with pulmonary atresia (TOF-PA), and 6 (8.1 %) had absent pulmonary valve syndrome (TOF-APVS). 14 (18.9 %) had an abnormal karyotype including 9/14 (64.3 %) with microdeletion 22q11.2. 25 (33.8 %) had extracardiac malformation. 4 (5.4 %) had agenesis of ductus arteriosus (DA), 22 (29.7 %) had right aortic arch (RAA) and 9 (12.2 %) had major aortopulmonary collateral arteries (MAPCAs). Within the postnatal diagnosis group, no patient had TOF-PA, 4/68 (5.9 %) had TOF-APVS. 12 (17.6 %) had extracardiac malformations, 9 (13.2 %) had an abnormal karyotype including 2/9 with microdeletion 22q11.2. 10 (14.7 %) had RAA, 9 (13.2 %) had MAPCAs. There were no cases with agenesis of DA. Increasing z-score values of the left/right pulmonary artery (LPA/RPA) prenatally were associated with a lower probability for early postnatal intervention (RPA: p = 0.017; LPA: p = 0.013). Within the prenatal diagnosis group, 12 of 41 (29.3 %) live-born patients with follow-up and intention to treat needed early intervention versus 7 (10.3 %) in the postnatal diagnosis group (p = 0.02). Within the postnatal diagnosis group, there were no deaths, while 2 (4.9 %) post-intervention deaths occurred in the prenatal diagnosis group. There are no significant differences concerning post-intervention survival in the prenatal diagnosis group versus the postnatal diagnosis group. Complex cases may be underrepresented in the postnatal diagnosis group. Smaller RPA/LPA values prenatally seem to be associated with early postnatal intervention.

Does prenatal diagnosis of critical congenital heart diseases influence the prereferral mortality in a center without surgical intervention?

Background: Prenatal diagnosis ameliorates some preoperative and postoperative outcomes in critical congenital heart disease (CHD). Despite large variability among anatomical defect types, nearly half of them are diagnosed antenatally. We aimed to investigate the effect of the antenatal diagnosis on prereferral mortality of infants with critical CHD in a center without cardiovascular surgery clinic.Methods: Medical records of the neonates who were diagnosed with critical CHD between the years 2010 and 2016 in Zekai Tahir Burak Women’s health Education and Research Hospital were retrospectively reviewed for the study. Patients were divided in two groups as prenatal and postnatal regarding the time of diagnosis. Groups were compared in terms of demographical, clinical characteristics, and prereferral mortality rates.Results: Seventy seven neonates were included in the study. Of those, 39 (50%) infants had prenatal diagnosis. Most common types of CHD were tetralogy of Fallot (TOF) with pulmonary atresia, hypoplastic left heart syndrome (HLHS), and transposition of the great arteries (TGA), respectively. Demographical and clinical characteristics were similar between the groups. Minor congenital anomalies were more common in the patients with prenatal diagnosis (41 versus 18%, p = .021). Blood gas parameters were similar except pCO2 levels, which were slightly lower in the postnatal diagnosis group (p = .048). There was no difference with regard to prereferral mortality between prenatal and postnatal diagnosed infants.Conclusions: Prenatal diagnosis may not be always associated with improved survival in critical CHD in a center without immediate surgical intervention opportunity.

Perinatal outcomes of congenital heart disease after emergent neonatal cardiac procedures

Purpose: We compared outcome of neonates with prenatal and post-natal diagnosis of congenital heart disease presenting in our paediatric heart centre between March 2005 and May 2015 who underwent an emergent intervention within 48 h post-partum.Materials and methods: In 52/111 (46.8%) with emergent intervention, congenital heart disease was diagnosed prenatally, in 59/111 (53.2%) with no specialized foetal echocardiography, diagnosis was made post-natally. In 98/111 (88.2%), 30-day outcome was known.Results: Regarding the entire cohort, 30-day survival did not differ significantly in prenatal and post-natal diagnosis group (71.2 vs. 72.9%; p > .1). Infants with prenatal diagnosis were more likely to be born by caesarean section (59.6% vs. 33.9%, p = .01). Those with post-natal diagnosis had a higher need for intubation (32.7% vs. 52.5%; p < .05). Subgroup analysis of HLH/HLHC (hypoplastic left heart/hypoplastic left heart complex) patients revealed higher number of deaths within 30 days of life in the post-natal diagnosis group, although the difference did not reach statistical significance (5/7, 71.4% vs. 5/20, 25.0%; p = .075).Conclusion: For newborns who require emergent neonatal cardiac procedures, our results point towards a lower death rate after prenatal diagnosis of HLH/HLHC.

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.

The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases

Objective Prenatal genetic analysis in primary immunodeficiency diseases (PIDs) can decrease morbidity and mortality.Methods We compared the postnatal prognoses of index cases and their subsequent sibling-fetuses using prenatal genetic analysis.Results From 2007 to 2014, 14 sibling-fetuses receiving a prenatal diagnosis born to four mothers with WAS, three with X-CGD, and one each with IPEX, XLA and severe combined immunodeficiency [RAG2-SCID] were recruited. There were six affected, two carriers, and six wild types. Among the six affected, four [3X-CGD and 1RAG2-SCID] were terminated and two [1WAS and 1X-CGD] with early prophylactics underwent successful hematopoietic stem cell transplantation (HSCT) without infection. In the 12 index cases with a postnatal diagnosis, eight died (five due to infections and one each due to refractory bleeding, severe diarrhea, and post-transplant pneumothorax), two X-CGD underwent reconstituted HSCT after recurrent life-threatening infections, one WAS developed malignancy, and another WAS developed autoimmune disorders despite the administration of prophylactics and regular immunoglobulin infusion.Conclusion Instead of recurrent life-threatening infections leading to mortality in the postnatal diagnosis group, the severe PIDs who received early prophylactics were cured by HSCT, and all of mortality were terminations in the prenatal diagnosis group. Further large-scale studies are needed to validate this beneficial effect.Key messagePrenatal genetic analysis in fetuses born to PIDs carrier mothers allows for the affected fetuses to receive optimal management including prophylactics against infections and HSCT if indicated.Patients with PIDs diagnosed postnatally who are prone to severe infections have higher rates of morbidity and mortality than their subsequent siblings who have a prenatal genetic diagnosis.

Cystic Enteric Duplication: Prenatally and Postnatally Diagnostic Group

Purpose: The duplication of gastrointestinal tract has been known to be a rare condition and two different forms, cystic and tubular type. This study was conducted to examine its clinical characteristics, especially cystic enteric duplication which was detected antenatally or postnatally. Methods: There were 13 patients, who confirmed as cystic enteric duplication after operation between July 1996 and June 2015. Clinical data, including a gender, age at operation, presenting symptoms, diagnostic modalities, locations of lesion, and results of surgical treatment, were reviewed retrospectively according to cases detected antenatally and postnatally. Results: Five cases were included in antenatal diagnosis group and 8 cases in postnatal diagnosis group. Both groups show slightly common in female and the lesion most common in ileum. Antenatal diagnosis group shows 2 males and 3 females and the mean age at operation was 12±52 days (range, 5 to 90 days). They received operation regardless of symptom. Postnatal group shows 3 males and 5 females and the mean age at operation was 462.5±777.0 days (range, 4 days to 6 years). Moreover, 6 patients (75.0%) were age before 2 years. They usually presented abdominal pain with vomiting. Conclusion: Cystic enteric duplication could present symptoms at any time during childhood, mainly before 2 years old, and so a proper management should be considered when suspect it. Although it is uncommon, surgical management including a minimal invasive procedure could be attempted despite the neonatal period.

Survey of Congenital Diaphragmatic Hernia (2006-2009)

Aim: To analyze the outcome of foetuses and neonates with congenital diaphragmatic hernia(CDH).Methods: All foetuses and neonates diagnosed with CDH were obtained from CAROBB(Congenital anomalies register for Oxfordshire, Buckinghamshire and Berkshire, Jan 2006 - Dec 2009), SEND(South East Neonatal Database) and PICU(Paediatric Intensive Care Unit) admissions(Aug 2006 - Dec 2009). The foetal and neonatal outcomes were analyzed.Results: 51 were identified from CAROBB database(pre & postnatal diagnoses). 29(75%) were born alive, 14(27%) terminated after prenatal diagnosis(5 isolated CDH and 6 chromosomal abnormalities), 2 stillbirths(24 & 33 weeks) and 1 spontaneous abortion(23 weeks). 5 patients' details were unknown. Among 29 livebirths, 22(76%) survived, 6(21%)died before surgery(4h to 4days) and 1 died at 7 months(surgery at 3days).20 case notes with CDH were reviewed from SEND and PICU admissions. 13(65%) were antenatally diagnosed(AND) and 7(35%) diagnosed postnatally. In the AND group 8(62%) survived. Among 5 deaths, one was a 25 weeker, 3 had liver in the chest(2 preterm) and the last died(34 weeks) due to antenatally inserted tracheal balloon being too far down the bronchus to be deflated. All survived in the post natal diagnosis group. The AND group needed higher inspiratory pressures compared to postnatal diagnosis group(20-26 vs 17-24), delayed surgery(D3-8 vs D1-2) and prolonged postoperative ventilation(5-19 vs 1-3 days).Conclusion: Overall survival for prenatally diagnosed CDH is 62% if survive to be born alive. Our data supports the previous data that prematurity and liver in the chest are poor prognostic signs. Postnatal diagnosis has a better outcome.

Major congenital heart disease: antenatal detection, patient characteristics and outcomes

Objective. To determine the antenatal detection rate in Northern Ireland (NI) for major congenital heart disease (CHD) between 1st January 2002 and 31st December 2006. To compare characteristics and prognosis of antenatal versus postnatal groups.Methods. Data were obtained from fetal, neonatal and post-mortem records. Variables recorded: antenatal diagnosis, karyotype, referral indication, type of defect and neonatal outcome.Results. Twenty-seven per cent (73/272) of patients with major CHD were diagnosed antenatally. Forty-one per cent (30/73) of these died before 28 days. Eighty-two per cent (60/73) of the antenatal diagnosis group were referred with suspected cardiac abnormality on obstetric screening. There were more lethal trisomies amongst the antenatal diagnosis group (15%, 11/73) than the postnatal diagnosis group (2%, 4/191) p < 0.001. Significantly more of the antenatal group had functionally univentricular hearts than the postnatal/post-mortem group (47%vs. 7%). Eighty-nine per cent (65/73) of defects diagnosed antenatally were ‘four chamber view’ defects. 11% (8/73) were ‘outflow tract view’ defects.Conclusions. Antenatal detection in NI is around the European average. Those with an antenatal diagnosis have more complex CHD, higher risk of karyotype abnormality and poorer neonatal outcomes. Screening is responsible for the majority of antenatal diagnoses of major CHD. A regional training programme for obstetric sonographers has now been delivered.

Impact of prenatal diagnosis on choledochal cysts and the benefits of early excision

To evaluate the clinical outcomes of patients with prenatally diagnosed choledochal cysts compared with those diagnosed after birth and the optimal timing of definitive treatment. Retrospective review of all patients who underwent primary choledochal cyst excision and Roux-en-Y hepaticojejunostomy from 1996 to 2006 at a single institution. A total of 45 patients were included. Ten (22.2%) of the patients had prior prenatal diagnosis. The mean age at operation for this group was 4.4 months and mean follow up was 55.9 months. There was no operative complication or late morbidity. For the post-natal diagnosis group, the mean age at operation was 5.7 years (P < 0.000) and mean follow up period was 69 months. The most common presentation in this group was abdominal pain (31.4%), followed by pancreatitis (28.6%) and symptoms of cholestasis (25.7%). Early post-operative morbidities occurred in two (5.7%) patients. On long-term follow up, two (5.7%) further patients in the post-natal group developed complications. Prenatal diagnosis of choledochal cysts results in earlier definitive surgery. More adverse complications were seen in those who had surgery at an older age. We therefore recommend early excision of choledochal cysts.

Impact of prenatal diagnosis of transposition of the great arteries on obstetric and early postnatal management

Objectives A growing percentage of cases of transposition of the great arteries (TGA) are being diagnosed prenatally. A decrease in the percentage of spontaneous deliveries has been reported, but the rate of cesarean section (c-section) in this population has never been studied. Our goal was to determine whether prenatal diagnosis affects delivery and immediate neonatal management of TGA neonates. Study design A series of 121 TGA arterial switch candidates were included over a 6-year period. Variables on delivery, clinical status at ICU admission, arrival time and atrial septostomy were recorded retrospectively. Comparisons between the two groups were made by Student's t or Chi-squared test. Results A cohort of 121 patients was enrolled (48 prenatal and 73 postnatal diagnoses). Induced delivery and c-section were more frequent in the prenatal (54.1% and 31%) than in the postnatal diagnosis group (19.4% and 8%; p < 0.0002 and p < 0.001, respectively). The mean interval between birth and ICU admission was 2 h 30 min in the prenatal compared to 26 h in the postnatal diagnosis group ( p < 0.001). Arrival times were similar in both groups. Atrial septostomy by umbilical route was more often feasible in the prenatal (81%) than in the postnatal diagnosis group (51%; p < 0.001), with a higher rate of failure in the latter. Conclusion Prenatal awareness of TGA was associated with a higher percentage of induced deliveries and a major increase in the rate of c-section, without any impact on the newborn except easier umbilical atrial septostomy and earlier ICU admission.

Parental Understanding of Neonatal Congenital Heart Disease

This study aimed to evaluate the impact of prenatal diagnosis on parental understanding of congenital heart disease (CHD) in newborns. Consenting parents of newborns with CHD answered questions about the cardiac lesion, surgical repair, follow-up management, risk for CHD in future children, and maternal education before neonatal intensive care unit (NICU) discharge. A total understanding score was calculated (0-10) as the sum of five subscores: physician score, CHD score, surgery score, follow-up score, and reproduction score. Each category was scored as 0 (none correct), 1 (some correct), or 2 (all correct). The prenatal and postnatal diagnoses scores were compared. From June 2006 to November 2006, 50 families completed the questionnaire. Of these 50 families, 26 reported a prenatal diagnosis. The mean infant age when the parents were approached was 17.3 +/- 13.3 days. The summary understanding score for the entire group was 6.3 +/- 2.4 of 10. Multivariate regression analysis demonstrated a difference in scores between prenatal and postnatal diagnosis groups (p = 0.02) when control was used for maternal education. Prenatal diagnosis and maternal education (p < 0.01) had independent effects on the score. Prenatal diagnosis increases parental understanding of neonatal CHD. Nevertheless, parental understanding remains suboptimal.

Effect of Prenatal Diagnosis on Outcome in Patients With Congenital Heart Disease

After completing this article, readers should be able to: 1. List the most frequent prenatally diagnosed forms of congenital heart disease. 2. List the fetal indications for echocardiography. 3. List the maternal indications for echocardiography. 4. Review the findings of studies comparing the outcome of prenatally versus postnatally diagnosed newborns who have congenital heart disease. 5. List the advantages of prenatal diagnosis of congenital heart disease. Congenital heart disease (CHD) continues to be a major source of neonatal mortality. Since the development of echocardiographic screening for fetal cardiac anatomy in the 1980s, an increasing number of affected newborns are identified prior to delivery. (1) A recent study in a population that had risk factors for CHD found that the sensitivity of fetal echocardiography was 38%, with a false-positive rate of only 0.05%. (2) However, when performed by skilled operators viewing outflow tracts in addition to the four-chamber view, an accuracy as high as 96% has been reported. (3) These prenatal diagnoses are heavily skewed toward more severe CHD, with disorders of the atrioventricular junction (endocardial cushion defects), univentricular hearts, and hypoplastic left heart syndrome (HLHS) being the most common (Table 1). | Diagnosis | Proportion of All Fetal Diagnoses | Proportion of CHD in Newborns in Study | |:-------------------------------------------:| --------------------------------- | -------------------------------------- | | Hypoplastic left heart syndrome | 31% | 15% | | Atrioventricular septal defect | 30% | 25% | | Univentricular heart | 20% | 9% | | Pulmonary atresia intact ventricular septum | 8% | 5% | | Total anomalous pulmonary venous return | 0.3% | 1% | | Tetralogy of Fallot | 9% | 28% | | Transposition of the great arteries | 1.7% | 17% | Table 1. Relative Frequencies of Congenital Heart Defects (CHD) at Fetal Diagnosis and Seen At Birth* The ability to identify the most severe forms of CHD prior to delivery has changed the population of liveborn infants who have CHD. Prenatal diagnosis allows for extensive parental counseling and coordination of care. The fetal diagnosis of CHD prompts genetic testing to identify chromosomal abnormalities, which are found in 10% of cases, and a detailed anatomic evaluation to assess associated extracardiac anomalies, which coincide in 15% of cases. (1) In cases of poor prognosis, early prenatal diagnosis gives the parents the option of terminating …

The effect of antenatal diagnosis on the management of small bowel atresia

The aim of this study was to determine whether babies with small bowel atresia (SBA) diagnosed antenatally followed a different course from those diagnosed postnatally. We reviewed the records of neonates admitted to a single institution between 1985 and 2000 with a diagnosis of SBA. Thirty-nine neonates presented with SBA, with antenatal diagnosis (AND) being made in 12 (31%). There was no difference between the AND and postnatal diagnosis (PND) groups in terms of gestational age at birth, but the AND group had a lower mean birth weight. The babies in the AND group were operated on more quickly than those in the PND group. Ten out of 12 (83%) AND patients required parenteral nutrition compared with 12 out of 27 (44%) in the PND group, and the AND group had a significantly longer mean length of stay and spent a longer time on parenteral nutrition than the PND group.

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

ObjectivesWe reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. Study designWe reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. ResultsTwenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4±6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n=4) or surgical intervention (n=3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. ConclusionsCardiac rhabdomyomas are benign from the cardiovascular standpoint in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.

Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally

We sought to determine the impact of prenatal diagnosis on the perioperative outcome of newborns with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA). All neonates with HLHS or TGA encountered at Children’s Hospital, Boston, Massachusetts, from January 1988 to May 1996 were identified and outcomes documented. Birth characteristics, preoperative, operative, and postoperative variables of term newborns with a prenatal diagnosis of HLHS or TGA who underwent a Norwood operation (n = 27) or arterial switch operation (n = 14), respectively, were compared with newborns with a postnatal diagnosis of HLHS (n = 47) or TGA (n = 28) who had undergone surgery. Of 217 neonates with HLHS and 422 with TGA, 39 and 16, respectively, had a prenatal diagnosis. The preoperative mortality among neonates aggressively managed did not differ between the prenatal and postnatal diagnosis groups for either HLHS or TGA (p >0.05). Neonates with a prenatal diagnosis who underwent surgery had objective indicators of lower severity of illness preoperatively, including a higher lowest recorded pH (p = 0.03), lower maximum blood urea nitrogen (p = 0.002), and creatinine (p = 0.03) among newborns with HLHS, and a tendency toward higher minimum of partial pressure of arterial oxygen in the TGA group (p = 0.06). Prenatal diagnosis was not associated with an improved postoperative course or operative mortality (p <0.05) within a diagnostic group. Thus, a prenatal diagnosis improves the preoperative condition of neonates with HLHS and TGA, but may not significantly improve preoperative mortality or early postoperative outcome among neonates managed at a tertiary care center.