Timing of diagnosis affects mortality in critical congenital heart disease.

OBJECTIVE: Screening for critical congenital heart disease (CHD) with prenatal ultrasound or postnatal pulse oximetry has the potential to improve outcome. To guide screening recommendations, this study aimed to identify the proportion and outcome of major CHD diagnosed before (early) or after (late) postnatal discharge prior to the introduction of postnatal oximetry screening. DESIGN: A retrospective, population-based review of all major CHD in New Zealand from 2006 to 2010. The timing of diagnosis relative to discharge and to intervention in critical and non-critical cases with intention to treat was determined, as was the relationship of diagnostic timing to mortality at 1 year of age. RESULTS: Late diagnosis occurred in 20% of critical and 51% of non-critical cases. Mortality occurred in 18% of critical vs 8% of non-critical cases. Mortality was lower with an early diagnosis of critical CHD (early diagnosis 16% vs late diagnosis 27%, p=0.04). Isolated critical CHD benefited most from early diagnosis (mortality, early diagnosis 12% vs late diagnosis 29%, p=0.002). Early diagnosis occurred in >90% critical complex CHD and hypoplastic left heart syndrome, 85% d-transposition of the great arteries (d-TGA) and 53% critical left ventricular outflow tract obstruction (LVOTO). Deaths in d-TGA and LVOTO primarily occurred prior to intervention and for d-TGA most often when birth was distant from the cardiac centre. CONCLUSIONS: Excess mortality occurs following late diagnosis of critical CHD, and for d-TGA even with early diagnosis if intervention is not immediately available. Antenatal detection retains an important role in reducing mortality related to critical CHD.

Comparison of ultrasound and magnetic resonance imaging parameters in predicting survival in isolated left-sided congenital diaphragmatic hernia.

OBJECTIVE: To compare test characteristics of ultrasound- and magnetic resonance imaging (MRI)-derived parameters in predicting newborn survival in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS: This was a retrospective study involving 85 fetuses with an isolated left CDH. All had detailed prenatal evaluation, prenatal care, delivery and postnatal care at a single institution. Ultrasound images were reviewed to allow calculation of the lung-to-head ratio (LHR) and the observed/expected LHR (O/E-LHR), and MRI images were reviewed to determine the observed/expected total lung volume (O/E-TLV) and the percent herniated liver (%HL). Univariable logistic regression was used to evaluate each parameter for its ability to predict survival. Receiver-operating characteristics (ROC) curves were constructed and test characteristics were determined for each parameter as a predictor of survival. RESULTS: The overall survival for all fetuses included was 65%. Pseudo-R(2) values for all parameters were similar and were statistically significant as predictors of survival, with %HL having the highest pseudo-R(2) , of 0.28. ROC curve analysis showed ultrasound-determined parameters (LHR and O/E-LHR) to have a similar area under the curve (AUC), of 0.70, whilst MRI parameters (O/E-TLV and %HL) had AUC values of 0.82 and 0.84, respectively. At ROC-curve-determined cut-off values, MRI parameters had better test characteristics than did ultrasound parameters. At a standardized 5% false-positive rate, %HL performed best, with a sensitivity of 0.54 and a specificity of 0.95. At clinically employed cut-off values, sensitivity was similar for all parameters but MRI parameters provided the best combination of sensitivity and specificity, as evidenced by better likelihood ratios. CONCLUSIONS: A variety of measures have been proposed as antenatal predictors of survival in CDH. Ultrasound parameters function at a similar level, whereas MRI-determined parameters appear to offer better predictive value.

Factores clínicos y ultrasonograficos com predictores del éxito en la inducción del trabajo del parto / Clinical and ultrasound parameters to predict the efficacy of induction of labor and delivery

Antecedentes: La inducción del trabajo del parto ha cobrado mucha importancia actualmente en la práctica obstétrica. Existen diversos factores que deben ser tomados en cuenta al momento de iniciar una inducción, dentro de los factores más utilizados como predictores del desenlace de la inducción del trabajo de parto se incluyen: la medición cervical por ultrasonido y el test de Bishop. Pacientes y Método: Se trata de un estudio prospectivo observacional en el cual se evaluaron dos grupos: Grupo A: pacientes a quienes se les inició inducción del trabajo de parto, evaluadas a través de medición ultrasonográfica transvaginal del cérvix y el Grupo B: pacientes que se les inició inducción del trabajo de parto, evaluadas únicamente a través del test de Bishop. Resultados: Se captó un total de 66 pacientes, asignadas al azar a los grupos A (33 pacientes) y grupo B (33 pacientes). El 78.2% de las pacientes del grupo A tuvieron una duración del trabajo de parto mayor de 12 horas y 60.6 % del grupo B una duración entre 6 -12 horas. En el grupo A el 91.3 % de las pacientes tuvieron parto vía vaginal y 78 % del grupo B. Conclusión: A pesar de que diferentes estudios reportan que la ultasonografía cervical es el mejor factor predictor pronóstico para la inducción del trabajo de parto, esto no fue evidenciado en este estudio, por lo que se debería valorar más el uso de métodos clínicos, como el test de Bishop o tomar en cuenta varios factores predictores pronósticos a la vez, al momento de iniciar la inducción del trabajo de parto, para disminuir la morbi-mortalidad materno fetal...

The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.

OBJECTIVE: To describe the sensitivity of fetal anomaly scanning at detecting transposition of the great arteries (TGA) and to investigate whether prenatal detection improves survival. DESIGN: Retrospective review of survival by comparing those who had an antenatal diagnosis with those who did not. SETTING: Population-based study in Wessex region over 13 years. POPULATION: Babies with isolated TGA and an intact ventricular septum. METHODS: Review of outcomes by comparing those who had an antenatal diagnosis with those who did not. MAIN OUTCOME MEASURES: Mortality rates in each group. RESULTS: TGA occurred more commonly in boys than in girls. Using the existing national screening policy, the antenatal detection rate of TGA was only 6.9% over the study period, improving to 25% in the last 4 years. This contrasts with a 40% detection rate when TGA was associated with a ventricular septal defect (VSD). All the babies who had TGA diagnosed antenatally survived through surgery. Of those who were not diagnosed antenatally, two were stillborn, five died before the diagnosis was made and four died after surgery. Although the difference in survival rates between those who were antenatally diagnosed and those who were not is not statistically significant (chi(2)= 3.9; P = 0.11), some of these deaths could have been prevented if a prenatal diagnosis had been made. CONCLUSIONS: Improved antenatal diagnosis could lead to a significant reduction in the mortality associated with TGA. The current low detection rate of TGA in the UK could be improved by the inclusion of outflow tract views in routine fetal anomaly scans, and we believe that the extra workload is justified.

Congenital renal tract anomalies: outcome and follow-up of 402 cases detected antenatally between 1986 and 2001.

OBJECTIVE: To determine the long-term prognosis of antenatally detected renal tract anomalies in order to optimize parental counseling. METHODS: This was a follow-up study of all renal tract abnormalities detected antenatally in a Level 3 ultrasound department between 1986 and 2001. Follow-up data (median age, 8 years) were retrieved from the records of the Paediatric Urology Department or the attending pediatrician. RESULTS: A urinary tract anomaly was detected in 408 fetuses. There were four false-positive diagnoses. From two children follow-up data were incomplete, leaving 402 cases for analysis. A chromosomal abnormality was present in 7/81 (8.6%) fetuses that had karyotyping. Termination of pregnancy was performed in 55 (13.7%) cases and a further 66 (16.4%) children died during the perinatal period and up to 1 year of age. In 106/121 (26.4% of all fetuses) deceased children the cause of death was directly related to the renal tract anomaly. In the 281 surviving children a total of 545 renal tract anomalies were diagnosed postnatally, requiring a total of 381 surgical interventions in 156 infants. Outcome in survivors was generally good, with impaired renal function in nine infants and hypertension in three (4% of the survivors). CONCLUSIONS: Congenital renal tract anomalies are associated with a high mortality rate, especially when they are structural developmental anomalies of the kidneys. Survivors require multiple operations, but the outcome is generally favorable. Ultrasound diagnosis, especially when made early, of non-lethal urinary tract anomalies may prevent additional renal damage by timing of delivery and early postnatal treatment.

Outcome of staged reconstructive surgery for hypoplastic left heart syndrome following antenatal diagnosis.

BACKGROUND AND AIMS: Staged reconstructive surgery has radically altered the prognosis of hypoplastic left heart syndrome (HLHS). Antenatal diagnosis allows for appropriate counselling, and time to consider treatment options. We report outcome from a centre where most cases are antenatally diagnosed and delivered on site. METHODS: Information was collated on 188 consecutive cases of HLHS between 1995 and 2000, including timing of diagnosis, outcome of pregnancy, and age and outcome at each stage of surgery. At Guy's Hospital, 174 cases were diagnosed antenatally, of whom 50 underwent surgery. Fourteen others (five diagnosed antenatally at other centres, and nine diagnosed postnatally) also underwent surgery. RESULTS: Survival after stage I (the Norwood operation) was 52% (33/64). Postoperative survival after stage II (the hemi-Fontan operation, performed in 29), and stage III (the Fontan operation, performed in 10), was 100%. Two late deaths occurred 3 and 10 months after stage II, giving overall survival of 48% (31/64). At follow up, three children have neurological impairment, and one had poor right ventricular function necessitating cardiac transplantation. CONCLUSIONS: Antenatal diagnosis allows informed decisions about treatment options, and facilitates preoperative care. Mortality following stage I is high, irrespective of timing of diagnosis, but medium term outcome for survivors is good.

Different policies on prenatal ultrasound screening programmes and induced abortions explain regional variations in infant mortality with congenital malformations.

OBJECTIVE: To compare the impact of induced abortions (IA) on the mortality of infants with congenital malformations in four European regions with different policies on IA and prenatal ultrasound screening for congenital malformations. METHODS: A registry-based collection of data on congenital malformations in four different countries: Ireland (Dublin), Denmark (Funen County), Austria (Styria), and France (Strasbourg). RESULTS: The proportion of infant deaths with malformations ranged from 23 to 44% of all infant deaths with the highest proportion in Dublin, where IA is not allowed and prenatal ultrasound screening not performed. There were highly significant differences in the prevalences of IA (p < 0.001), fetal deaths (p < 0.01), and deaths in infants with congenital malformations (p < 0.001) between the four regions. The differences in total mortality with congenital malformations (IA + fetal deaths + infant deaths) between regions decreased, and only Strasbourg differs significantly from the other three regions. CONCLUSION: Prenatal ultrasound screening programmes have only a minor impact on total mortality with congenital malformations from 2nd trimester of pregnancy to 1 year of age, but seem to change the time of death which may be important for both the parents and the community.

Outcome of the prenatally diagnosed congenital cystic adenomatoid lung malformation: a Canadian experience.

UNLABELLED: Congenital cystic adenomatoid malformation of the lung (CCAM) is diagnosed by prenatal ultrasonography with an increasing frequency but controversy persists as to its prognosis and prenatal management. METHOD: A multi-institutional study of cases of CCAM diagnosed antenatally identified by ultrasonographers and by a review of hospital charts. RESULTS: We obtained 48 cases from five centers. We estimate the incidence of CCAM at 1:25,000 to 1:35,000 pregnancies. The incidence of voluntary abortions was 15% (7/48), of spontaneous abortions 2% (1/41) and of postnatal death 10% (4/40). One of the postnatal deaths was from trisomy 18. Of the 7 aborted fetuses, 2 had multiple malformations and 1 had severe hydrops and oligohydramnios; the other 4 had a large mass with mediastinal displacement but without hydrops. When pregnancy was allowed to continue, 56% of the lesions regressed spontaneously, even though one third of these had initial progression. In 17 cases (42%) the mediastinal shift corrected itself, sometimes by simple growth of the fetus but most often by a decrease in the size of the lung mass. In 1 fetus, repeated needle decompressions followed by double-pigtail catheter drainage of large cysts allowed regression of hydrops. Despite this, neonatal death occurred from pulmonary hypoplasia. CONCLUSION: CCAM can lead to fetal or neonatal demise from hydrops, lung hypoplasia, prematurity or severe associated malformations, but has a good prognosis in the majority of cases.