Prenatal diagnosis and treatment planning of congenital heart defects-possibilities and limits

BACKGROUND: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation. DATA SOURCES: PubMed database was searched with terms of "congenital heart defects", "fetal echocardiography" and "neonatal cardiac surgery". RESULTS: At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-95% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases. CONCLUSION: The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedures.

Fetal cystoscopy for severe lower urinary tract obstruction-initial experience of a single center

Objective To report the experience with fetal cystoscopy and laser fulguration of posterior urethral values (PUV) for severe lower urinary tract obstruction (LUTO). Methods Between July 2006 and December 2008, fetal cystoscopy was offered to 23 patients whose fetuses presented with severe LUTO. favorable urinary analysis and gestational age <26 weeks. Fetal urinary biochemistry was evaluated before and after cystoscopy. All infants were followed 6-12 months after birth. Abnormal renal function was defined when serum creatinine higher than 50 mu mol/L (2 Standard Deviation) or the necessity of dialysis or renal transplantation. Autopsy was always performed whenever fetal or neonatal deaths occurred. Results Eleven patients decided to undergo fetal therapy and 12 elected to continue with expectant observation. There was no difference between both groups in gestation age at diagnosis and referral examinations. Urethral atresia was diagnosed in 4/11 (36.4%) fetuses by fetal cystoscopy. At 26 weeks, fetuses that were managed expectantly presented with worse urinary biochemistry results (p < 0.05). Survival rates and percentage of infants with normal renal function were significantly higher in the cystoscopic group than in the expectant group (P < 0.05). Conclusions Percutaneous fetal cystoscopy is feasible using a thinner special cannula for prenatal diagnosis and therapy of LUTO. Prenatal laser ablation of the PUV under cystoscopy may prevent renal function deterioration improving postnatal outcome. Copyright (C) 2009 John Wiley & Sons, Ltd.

Partner relationships during pregnancy in anxious and depressed women and men

To assess anxiety, depression and relationship satisfaction in both women and men during pregnancy, the State Anxiety Inventory (STAI), The Center for Epidemiological Studies-Depression Scale (CES-D) and The Relationship Questionnaire (RQ) were administered during the second trimester to a sample of 59 pregnant women and their partners. Anxious pregnant women rated their relationships as less positive. Depressed pregnant women also rated their relationships as less positive. The women’s anxiety scores were predictive of their positive and negative relationship scores. The women and their partners’ negative relationship scores were also predictive of each others’ negative relationship scores. These results highlight the importance of targeting anxiety as well as depression, and pregnant women as well as their partners in prenatal intervention programs.

Pre- and postnatal therapy of lower urinary tract obstruction - an experience of 18 years

With prenatal detection of hydronephrosis and technological advances in surgical equipment, the management of lower urinary tract obstruction has evolved to include prenatal surgical intervention. Surgical intervention, was based upon the rationale that restoring amniotic fluid to normal levels by shunting fetal urine from the obstructed urinary system to the amniotic space would prevent lung hypoplasia and, thus, improve neonatal survival. Inaddition, relief of the obstruction would also reduce back pressure and reduce injury to the developing nephron, thus improving long-term renal function postnatally. However, this remains investigational, and the vast majority of affected infants are treated soon after birth. We have experience since 1991 with prenatal treatment of megacystis. In 23 cases of 50 detected megacystis with oligohydramnion in male and without other abnormalities a prenatal intervention by bladderpunction and in 12 cases additional vesicoamniotic shunt placement was performed. The prognosis of megacystis with oligohydramnion is stated with a survival rate of 10-30%. In our group 54% (13 children) survived. Also we want present 56 cases of urethral valves with a postnatal transurethral intervention. With a follow up time from 8.6 (3 to 15) years we attend 34 children (60%) with normal renal function, 21% (12) with mild or moderate renal insufficiency and there was a kidney transplantation in 6 cases necessary. With our multidisciplinary presentation we want to discuss the indication, interdisciplinary aspects,risks and the follow up of pre- and postnatal intervention in such cases.

Prenatal screening for congenital toxoplasmosis in Campania: preliminary report on activities and results

By 1997, an open cohort of 1,652 live newborn of 1,637 mothers with gestational toxoplasmosis had been recruited in the Campania region to monitor the burden of congenital toxoplasmosis (CT). Of the 1,556 mother-child pairs that completed the follow up, 92 definite cases were detected, yielding a 5.9% (4.8-7.1 95% CI) transmission rate. The onset was patent for 43% of patients and sensorineural complications were shown for a further 15% of subclinical onset patients later than two years of age. The overall prevalence of toxoplasmosis during gestation was 2.46 of 1,000 deliveries, while the prevalence of definite CT was 1.38 of 10,000 live newborns. However, there is still room for intervention, as only 23% of the maternal diagnoses were proven through seroconversion, 63 of the late-gestation seroconverters remained untreated, and six probable CT diagnoses were made following referrals due to patent sequelae and born during the study period. There was a positive secular trend on the rates of infant referral and definite CT diagnosis, according to the live birth rate (Ç2 for trend < 0.001). Extension of this surveillance system across the country could help to define a future strategy for prevention.

Congenital diaphragmatic hernia : a European population-based study of epidemiology, prenatal diagnosis and mortality

Aim: To study the epidemiology and the impact of prenatal diagnosis on mortality and morbidity in infants with isolated congenital diaphragmatic hernia (CDH). Methods: Cases were identified in eight population-based registries of congenital malformations (Eurocat) in Europe. Results: A total of 183 live births were included in the study. Sixty per cent died and 67% of all deaths were during the first day of life. CDH was diagnosed prenatally in 39% of cases. Both mortality and morbidity were significantly higher for infants diagnosed prenatally compared to those diagnosed postnatally. The Apgar score was a very sensitive indicator for survival. Gestational age at birth was significantly lower for infants diagnosed prenatally compared to those diagnosed postnatally (37.6 weeks vs. 38.8 weeks, p < 0.01). At the end of follow-up, half of the survivors were leading a normal life. The most frequently reported health problems were respiratory and gastrointestinal symptoms. Conclusions: In this population-based study, mortality for infants with CDH was high (60%) and early prenatal diagnosis was a risk factor for survival. Intervention at the time of birth seems too late for the majority of newborn infants with CDH.

Intervention éducative pour soutenir le développement d’un sentiment de maîtrise du rôle paternel chez des futurs pères

Rapport de stage présenté à la Faculté des sciences infirmières en vue de l’obtention du grade de Maître ès sciences (M.Sc.), sciences infirmières option expertise-conseil en soins infirmiers

Video laparoscopic intervention for an interstitial pregnancy after failure of clinical treatment

CONTEXT: Interstitial pregnancy is a rare form of ectopic pregnancy for which the best therapeutic course of action has yet to be determined. Surgical intervention entails a high risk of hemorrhage due to the great vascularization of the cornual region of the uterus. Case descriptions facilitate the analysis of results and aid clinicians in determining the most appropriate course of action in these situations. CASE REPORT: In a patient with an ultrasound diagnosis of interstitial pregnancy, clinical treatment using methotrexate was chosen. However, after one week, there was a marked decline in the serum level of the β subunit of chorionic gonadotropin hormone, although an ultrasound examination revealed embryonic cardiac activity. A second dose of the chemotherapy was administered. Embryonic cardiac activity persisted 48 hours later. Video laparoscopy was performed to achieve right-side cornual resection, which resulted in satisfactory resolution of the case.

Controversies of fetal cardiac intervention

Remarkable advances in ultrasound imaging technology have made it possible to diagnose fetal cardiovascular lesions as early as 12-14 weeks of gestation and to assess their physiological relevance by echocardiography. Moreover, invasive techniques have been developed and refined to relieve significant congenital heart disease (CHD), such as critical aortic and pulmonary stenoses in the pediatric population including neonates. Recognition of the fact that certain CHDs can evolve in utero, and early intervention may improve the outcome by altering the natural history of such conditions has led to the evolution of a new fetal therapy, i.e. fetal cardiac intervention. Two entities, pulmonary valvar atresia and intact ventricular septum (PA/IVS) and hypoplastic left heart syndrome (HLHS), are associated with significant morbidity and mortality even with postnatal surgical therapy. These cases are believed to occur due to restricted blood flow, leading to impaired growth and function of the right or left ventricle. Therefore, several centers started the approach of antenatal intervention with the primary goal of improving the blood flow through the stenotic/atretic valve orifices to allow growth of cardiac structures. Even though centers with a reasonable number of cases seem to have improved the technique and the immediate outcome of fetal interventions, the field is challenged by ethical issues as the intervention puts both the mother and the fetus at risk. Moreover, the perceived benefits of prenatal treatment have to be weighed against steadily improving postnatal surgical and hybrid procedures, which have been shown to reduce morbidity and mortality for these complex heart defects. This review is an attempt to provide a balanced opinion and an update on fetal cardiac intervention.

Correlates of prenatal care initiation among low -income Hispanic women

Because Hispanic women are even less likely than women of other ethnic groups to receive early prenatal care, the purpose of this study was to identify factors that may influence these women to initiate care. After giving consent, 300 Hispanic women (100 who initiated first trimester care, 100 who initiated second trimester care, and 100 who initiated third trimester care or received no care) were interviewed in the post partum unit of a local public hospital. The interview included recollection of events leading to the first prenatal appointment, including first physical indicators of pregnancy, confirmation of pregnancy, feelings about the pregnancy, appointment making behavior, and system barriers encountered. The Health Belief Model was used as the theoretical framework for determining psychosocial variables. Using this model, perceived susceptibility to problems during pregnancy, perceived seriousness of possible problems, perceived benefits of prenatal care, perceived barriers to care, and cues to action were assessed. Time of entry into prenatal care was assessed by interview.^ In this sample of low-income Hispanic women, a higher perception of barriers to care was associated with later initiation of care and non-use of care, higher perceived benefits of care for the baby were associated with earlier care, especially in women without a card to access hospital district services, and having a card to access hospital district services was associated with earlier care. Several barriers to care were mentioned by women on open-ended questioning including long waiting times, embarrassment, and lack of transportation.^ Recommendations for practice included decreasing the number of visits for low-risk women while increasing the time spent with the provider, decreasing the number of vaginal exams for low-risk women, increasing the use of midwives, training lay workers to do risk assessment, giving specific messages about benefits of care to baby, and increasing general health motivation through community intervention methods. More research on the psychosocial and cultural factors associated with initiation of care is needed. In the meantime, the recommendations for practice can be implemented now to increase the use of prenatal care by low-income Hispanic women. ^

Behavioral decision making and the levels of change: An application of the transtheoretical model to prenatal smoking in low -income women

Despite continued research and public health efforts to reduce smoking during pregnancy, prenatal cessation rates in the United States have decreased and the incidence of low birth weight has increased from 1985 to 1991. Lower socioeconomic status women who are at increased risk for poor pregnancy outcomes may be resistant to current intervention efforts during pregnancy. The purpose of this dissertation was to investigate the determinants of continued smoking and quitting among low-income pregnant women.^ Using data from cross-sectional surveys of 323 low-income pregnant smokers, the first study developed and tested measures of the pros and cons of smoking during pregnancy. The original decisional balance measure for smoking was compared with a new measure that added items thought to be more salient to the target population. Confirmatory factor analysis using structural equation modeling showed neither the original nor new measure fit the data adequately. Using behavioral science theory, content from interviews with the population, and statistical evidence, two 7-item scales representing the pros and cons were developed from a portion (n = 215) of the sample and successfully cross-validated on the remainder of the sample (n = 108). Logistic regression found only pros were significantly associated with continued smoking. In a discriminant function analysis, stage of change was significantly associated with pros and cons of smoking.^ The second study examined the structural relationships between psychosocial constructs representing some of the levels of and the pros and cons of smoking. The cross-sectional design mandates that statements made regarding prediction do not prove causation or directionality from the data or methods analysis. Structural equation modeling found the following: more stressors and family criticism were significantly more predictive of negative affect than social support; a bi-directional relationship was found between negative affect and current nicotine addiction; and negative affect, addiction, stressors, and family criticism were significant predictors of pros of smoking.^ The findings imply reversing the trend of decreasing smoking cessation during pregnancy may require supplementing current interventions for this population of pregnant smokers with programs addressing nicotine addiction, negative affect, and other psychosocial factors such as family functioning and stressors. ^

Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis

INTRODUCTION: Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease. MATERIAL AND METHODS: Retrospective study of complex congenital heart disease patients of our Hospital, born between 2007 and 2012. RESULTS: There were 126 patients born with complex congenital heart disease. In 95%, pregnancy was followed since the first trimester, with prenatal diagnosis in 42%. There was a statistically significant relation between birth place and prenatal diagnosis. Transposition of great arteries was the most frequent complex congenital heart disease (45.2%), followed by pulmonary atresia with ventricular septal defect (17.5%) and hypoplastic left ventricle (9.5%). Eighty-two patients (65.1%) had prostaglandin infusion and 38 (30.2%)were ventilated before an intervention. Surgery took place in the neonatal period in 73%. Actuarial survival rate at 30 days, 12 and 24 months was 85%, 80% and 75%, respectively. There was no statistically significant relation between prenatal diagnosis and mortality. DISCUSSION: Most patients with complex congenital heart disease did not have prenatal diagnosis. All cases with prenatal diagnosis were born in a tertiary center. Prenatal diagnosis did not influence significantly neonatal mortality, as already described in other studies with heterogeneous complex heart disease. CONCLUSION: prenatal diagnosis of complex congenital heart disease allowed an adequate referral. Most patients with complex congenital heart disease were not diagnosed prenatally. This data should be considered when planning prenatal diagnosis of congenital heart disease.

Preschoolers’ Executive Control and Diurnal Cortisol as Mediators of the Relations of Prenatal Stress to Child Adjustment

Thesis (Ph.D.)--University of Washington, 2016-08

Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?

International audience

Postnatal Evaluation and Outcome of Prenatal Hydronephrosis

Background: Prenatal hydronephrosis (PNH) is dilation in urinary collecting system and is the most frequent neonatal urinary tract abnormality with an incidence of 1% to 5% of all pregnancies. PNH is defined as anteroposterior diameter (APD) of renal pelvis ≥ 4 mm at gestational age (GA) of < 33 weeks and APD ≥ 7 mm at GA of ≥ 33 weeks to 2 months after birth. All patients need to be evaluated after birth by postnatal renal ultrasonography (US). In the vast majority of cases, watchful waiting is the only thing to do; others need medical or surgical therapy. Objectives: There is a direct relationship between APD of renal pelvis and outcome of PNH. Therefore we were to find the best cutoff point APD of renal pelvis which leads to surgical outcome. Patients and Methods: In this retrospective cohort study we followed 200 patients 1 to 60 days old with diagnosis of PNH based on before or after birth ultrasonography; as a prenatal or postnatal detected, respectively. These patients were referred to the nephrology clinic in Zahedan Iran during 2011 to 2013. The first step of investigation was a postnatal renal US, by the same expert radiologist and classifying the patients into 3 groups; normal, mild/moderate and severe. The second step was to perform voiding cystourethrogram (VCUG) for mild/moderate to severe cases at 4 - 6 weeks of life. Tc-diethylene triamine-pentaacetic acid (DTPA) was the last step and for those with normal VCUG who did not show improvement in follow-up examination, US to evaluate obstruction and renal function. Finally all patients with mild/moderate to severe PNH received conservative therapy and surgery was preserved only for progressive cases, obstruction or renal function ≤35%. All patients’ data and radiologic information was recorded in separate data forms, and then analyzed by SPSS (version 22). Results: 200 screened PNH patients with male to female ratio 3.5:1 underwent first postnatal control US, of whom 65% had normal, 18% mild/moderate and 17% severe hydronephrosis. 167 patients had VCUG of whom 20.82% with VUR. 112 patients performed DTPA with following results: 50 patients had obstruction and 62 patients showed no obstructive finding. Finally 54% of 200 patients recovered by conservative therapy, 12.5% by surgery and remaining improved without any surgical intervention. Conclusions: The best cutoff point of anteroposterior renal pelvis diameter that led to surgery was 15 mm, with sensitivity 88% and specificity 74%.