Mortality and morbidity of major congenital heart disease related to general prenatal screening for malformations.

BACKGROUND: Major congenital heart diseases (CHD) often demand intervention in the neonatal period. Prenatal diagnosis may improve mortality by eliminating the diagnostic delay; however, there is controversy concerning its true effect. We aimed to evaluate the effect of general prenatal screening on prognosis by comparing a period without general prenatal screening to a period with general prenatal screening. METHODS: We conducted a nationwide retrospective study including live born children and terminated fetuses diagnosed with major CHD. Prenatal screening was recommended only in high risk pregnancies between 1996 and 2004, whereas general prenatal screening was recommended between 2005 and 2013. We assessed the influence of general prenatal screening on all-cause mortality, cardiac death, preoperative and postoperative 30-day mortality and complication rate. RESULTS: 1-year mortality decreased over both periods, but the decrease was greater in the screening period (Odds ratio 0.92 (CI 0.83-1.00), p = 0.047). Prenatal detection of major CHD was associated with cardiac death in the period without general screening (Hazard Ratio 2.40 (CI 1.72-3.33), p < 0.001), whereas there was no significant association once general screening was implemented. Similarly, the association between prenatal diagnosis and pre- and postoperative mortality found in the period without general screening was insignificant after the implementation of general screening. CONCLUSION: Mortality in major CHD decreased throughout the study, especially in the period with general prenatal screening. However, comparing a prenatally diagnosed group with a postnatally diagnosed group is vulnerable to selection bias and proper interpretation is difficult.

Diagnóstico de factores de riesgo asociados a defectos de pared abdominal a mujeres con descendencia afectada. Provincia Matanzas, enero 2013-enero 2016 / Diagnosis of risk factors associated to abdominal wall defects in women with affected descendants. Province of Matanzas, January 2013-January 2016

Introducción: los defectos de pared abdominal constituyen un espectro de malformaciones anatómicas estructurales de etiología diversa, con severidad y pronóstico variable. Los factores de riesgo son disímiles, muchos modificables. Objetivo: identificar los factores de riesgo asociados a defectos de pared abdominal diagnosticados prenatalmente en la provincia de Matanzas. Materiales y métodos: se realizó una investigación de corte transversal sobre los factores de riesgo en las mujeres con diagnóstico de defectos de pared abdominal en la provincia Matanzas, de enero 2013 a enero 2016, a través de una encuesta, previa prueba piloto para cálculo de confiabilidad (alfa de Cronbach) y validez (regresión lineal). Resultados: el valor de ambos coeficientes fue superior a 0.7, por lo que la encuesta fue confiable y válida. Los factores de riesgo para estos defectos más frecuentes fueron la combinación de factores ambientales, no suplementación periconcepcional de ácido fólico y exposición a sustancias químicas. La necesidad de recibir información preconcepcional de las mujeres fue alta. Conclusiones: los factores de riesgo más frecuentes fueron la combinación de factores ambientales y la no suplementación periconcepcional de ácido fólico (AU).

Introduction: the defects of the abdominal wall are a spectrum of structural anatomic malformations of diverse etiology, with variable severity and prognosis. The risk factors are dissimilar, many of them modifiable. Objective: to identify the risk factors associated to abdominal wall defects diagnosed before birth in the province of Matanzas. Materials and methods: a cross-sectional research was carried out on the risk factors in women with diagnose of defects of the abdominal wall in the province of Matanzas, from January 2013 to January 2016, through an inquiry, after a pilot test to calculate reliability (Crombach alpha), and validity (lineal regression). Results: the value of both coefficients was higher than 0.7, so the inquiry was reliable and valid. The risk factors for these more frequent defects were the combination of environmental factors, the lack of peri conceptional supplementation of folic acid and exposition to chemical substances. The necessity of receiving pre-conceptional information from the part of the women was high. Conclusions: the more frequent risk factors were the combination of environmental factors and the lack of peri conceptional supplementation of folic acid (AU).

Diagnóstico de factores de riesgo asociados a defectos de pared abdominal a mujeres con descendencia afectada. Provincia Matanzas, enero 2013-enero 2016 / Diagnosis of risk factors associated to abdominal wall defects in women with affected descendants. Province of Matanzas, January 2013-January 2016

Introducción: los defectos de pared abdominal constituyen un espectro de malformaciones anatómicas estructurales de etiología diversa, con severidad y pronóstico variable. Los factores de riesgo son disímiles, muchos modificables. Objetivo: identificar los factores de riesgo asociados a defectos de pared abdominal diagnosticados prenatalmente en la provincia de Matanzas. Materiales y métodos: se realizó una investigación de corte transversal sobre los factores de riesgo en las mujeres con diagnóstico de defectos de pared abdominal en la provincia Matanzas, de enero 2013 a enero 2016, a través de una encuesta, previa prueba piloto para cálculo de confiabilidad (alfa de Cronbach) y validez (regresión lineal). Resultados: el valor de ambos coeficientes fue superior a 0.7, por lo que la encuesta fue confiable y válida. Los factores de riesgo para estos defectos más frecuentes fueron la combinación de factores ambientales, no suplementación periconcepcional de ácido fólico y exposición a sustancias químicas. La necesidad de recibir información preconcepcional de las mujeres fue alta. Conclusiones: los factores de riesgo más frecuentes fueron la combinación de factores ambientales y la no suplementación periconcepcional de ácido fólico (AU).

Introduction: the defects of the abdominal wall are a spectrum of structural anatomic malformations of diverse etiology, with variable severity and prognosis. The risk factors are dissimilar, many of them modifiable. Objective: to identify the risk factors associated to abdominal wall defects diagnosed before birth in the province of Matanzas. Materials and methods: a cross-sectional research was carried out on the risk factors in women with diagnose of defects of the abdominal wall in the province of Matanzas, from January 2013 to January 2016, through an inquiry, after a pilot test to calculate reliability (Crombach alpha), and validity (lineal regression). Results: the value of both coefficients was higher than 0.7, so the inquiry was reliable and valid. The risk factors for these more frequent defects were the combination of environmental factors, the lack of peri conceptional supplementation of folic acid and exposition to chemical substances. The necessity of receiving pre-conceptional information from the part of the women was high. Conclusions: the more frequent risk factors were the combination of environmental factors and the lack of peri conceptional supplementation of folic acid (AU).

[Preliminary analysis of the cause for the failure of non-invasive prenatal testing using cell-free fetal DNA derived from peripheral maternal blood].

OBJECTIVE: To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood. METHODS: A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up. RESULTS: Among the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14.1%) still yielded no effective results. This gave rise for a total failure rate of 0.088%. Of the 28 cases, 11 (39.2%) were due to high content of total free DNA and could not be sequenced, 17 (60.7%) were found to have the fetal DNA content of less than 4%. Among the 171 cases which have obtained a valid result, NIPT showed that there were 4 patients with high risk of trisomy 21, 18 cases with high risk of 18 trisomy and 1 case with high risk of 13 trisomy. Karyotyping analysis of the amniocytic chromosomes has identified 3 cases with 47,XN,+21, 1 case with 46,XN,rob(21;21), 1 case with 47,XN,+18, while the 13 trisomy case was found to be false positive. For the 28 cases with failed NIPT retest, 14 had normal delivery, with no anomaly noticed in the neonates. Nine patients had opted for artificial abortion during middle or late pregnancy due to maternal factors (4 cases) or fetal factors (5 cases). Four patients developed complications of pregnancy. One case was in good condition upon follow-up. Four cases were lost during follow-up. Of the 11 pregnant women who had failed the NIPT test due to high content of total free DNA, 6 (54.5%) had opted for artificial abortion during midterm pregnancy, which was significantly higher than that of pregnant women with low free DNA content (17.6%). CONCLUSION: Failure of NIPT testing should attract attention from researchers. Failure of single NIPT test should not be regarded as a high risk signal for fetal chromosomal aneuploidies. For those where the test has failed again, genetic counseling and strengthened perinatal care should be provided for the pregnant women.

Cancer related maternal mortality and delay in diagnosis and treatment: a case series on 26 cases.

BACKGROUND: Cancer during pregnancy is relatively rare but may lead to maternal mortality. We aimed to assess the incidence of cancer related maternal mortality and the neonatal outcome in these patients. Also, doctor- and patient-related delay in cancer diagnosis and therapy among patients with cancer related maternal mortality is assessed. METHODS: Maternal mortality was defined as death during pregnancy or within 1 year after delivery. Data of the Dutch Maternal Mortality Committee was used to calculate the cancer related maternal mortality rate and to assess neonatal outcome in the Netherlands. Delay was scored by ten medical specialist based on case descriptions. RESULTS: Cancer related maternal mortality rate was 1.23 per 100,000 live births. Delay in either diagnosis or treatment occurred in 65%. Delay in diagnosis was more frequent then delay in treatment, and was mainly caused by health care providers. Only 77% of pregnancies were ongoing, and 65% ended preterm of which 85% was induced. CONCLUSIONS: Avoiding delay in diagnosis and therapy in case of pregnancy related cancer could potentially improve maternal and neonatal outcome. It is therefore essential to increase awareness among health care providers about the occurrence and recurrence of cancer in pregnancy and the possibilities of diagnostic and therapeutic interventions in these women.

Gestação gemelar com mola hidatiforme completa e feto vivo / Twin pregnancy with a complete hydatidiform mole and live fetus

A gestação gemelar com mola hidatiforme completa que coexiste com feto vivo (GGMC) é uma entidade rara. Embora as recomendações sejam de conduta expectante, são descritas diversas complicações maternas e fetais, como o aumento da incidência de abortamento espontâneo, de parto prematuro, de sangramento vaginal, de pré-eclampsia grave e de doença trofoblástica persistente, entre outras complicações. Neste trabalho, descrevemos a evolução clínica de um caso de GGMC que evoluiu para crise tireotóxica, pré-eclâmpsia grave, interrupção da gestação e necessidade de cuidados intensivos maternos. A necropsia fetal evidenciou feto do sexo feminino, sem malformações aparentes, com alterações placentárias que favorecem cromossomopatia. A avaliação dos restos ovulares evidenciou vilosidades com hiperplasia do trofoblasto e vesículas, achados compatíveis com mola hidatiforme completa. Atualmente, após 15 meses de seguimento, a paciente permanece assintomática e com níveis indetectáveis de gonadotrofina coriônica.

Twin pregnancy with complete hydatidiform mole coexisting with a live fetus is a rare entity, and although the recommendations are expectant management of various maternal and fetal complications are described, such as increasing the number of spontaneous abortion, premature delivery, vaginal bleeding, pre-eclampsia and severe persistent trophoblastic disease, among other complications. In this paper, we describe the clinical course of a case of GGMC who developed thyrotoxic crisis, preeclampsia severe, termination of pregnancy and maternal need for intensive care. Fetal autopsy showed a female fetus with no apparent defects; with placental changes favoring chromosomal disorders. The evaluationof ovular remains showed villi with trophoblastic hyperplasia and vesicles, suggestive of complete mole. Currently, after 15 months of follow up, the patient remains asymptomatic with undetectable levels of chorionic gonadotropin.

Prognostic value of a hernia sac in congenital diaphragmatic hernia.

OBJECTIVE: To investigate the prognostic value of a hernia sac in isolated congenital diaphragmatic hernia (CDH). METHODS: Our database was searched to identify all consecutive cases of CDH referred to our fetal medicine unit between January 2004 and August 2011. Presence or absence of a hernia sac was assessed in liveborn cases using surgery or postnatal autopsy reports. We studied the correlation between the presence of a hernia sac and prenatal findings and perinatal morbidity and mortality. RESULTS: Over the study period, there were 70 cases with isolated CDH born alive in which either a surgery or autopsy report was available. Neonatal death, either preoperative or postoperative, occurred in 1/18 (5.6%) infants with a hernia sac and in 17/52 (32.7%) cases without a hernia sac (P = 0.03). Patients with a hernia sac had a significantly higher observed to expected pulmonary volume on prenatal magnetic resonance imaging (51.9 vs 39.3%, P = 0.01). Neonatal morbidity in surviving infants was lower in the group with a hernia sac, although not significantly. CONCLUSION: The presence of a hernia sac is associated with a higher pulmonary volume and a better overall prognosis for CDH.

Maternal mortality attributable to vascular dissection and rupture in the Netherlands: a nationwide confidential enquiry.

OBJECTIVE: To determine the incidence of maternal deaths attributable to vascular dissection and rupture in the Netherlands, and to assess clinical features, risk factors and the frequency of substandard care in the cases identified. DESIGN: Confidential enquiry into the causes of maternal deaths. SETTING: Nationwide in the Netherlands. POPULATION: A total of 3,108,235 live births. METHODS: Data analysis of all cases of maternal death from vascular dissection and rupture in the period 1993-2008. A literature review was also performed. MAIN OUTCOME MEASURES: Incidence, clinical features, risk factors and frequency of substandard care. RESULTS: A total of 23 maternal deaths attributable to vascular dissection and rupture were reported. In most cases the location was aortic (n=13), followed by coronary (n=4) and splenic (n=3) arteries. Clinical features were various, but most women presented with sudden unexplainable pain. Risk factors were present in 14 cases (61%), with hypertension being most frequently reported in ten cases (43%). Substandard care was determined to have been received in 13 cases (56%), inadequate assessment of complaints and a delay in diagnosis being the most frequent problems identified. CONCLUSIONS: Vascular dissection and rupture in pregnancy, although rare, carry a high risk of maternal and fetal morbidity and mortality. Because of the rarity of this condition and its variety in presentation, diagnosis is easily missed. A high index of suspicion when a woman presents with suggestive complaints, leading to an early diagnosis, may improve the prognosis for the woman and her child.

Socioeconomic inequalities in outcome of pregnancy and neonatal mortality associated with congenital anomalies: population based study.

OBJECTIVES: To investigate socioeconomic inequalities in outcome of pregnancy and neonatal mortality associated with congenital anomalies. DESIGN: Retrospective population based registry study. SETTING: East Midlands and South Yorkshire regions of England (representing about 10% of births in England and Wales). PARTICIPANTS: All registered cases of nine selected congenital anomalies with poor prognostic outcome audited as part of the United Kingdom's fetal anomaly screening programme with an end of pregnancy date between 1 January 1998 and 31 December 2007. MAIN OUTCOME MEASURES: Socioeconomic variation in the risk of selected congenital anomalies; outcome of pregnancy; incidence of live birth and neonatal mortality over time. Deprivation measured with the index of multiple deprivation 2004 at super output area level. RESULTS: There were 1579 fetuses registered with one of the nine selected congenital anomalies. There was no evidence of variation in the overall risk of these anomalies with deprivation (rate ratio for the most deprived 10th with the least deprived 10th: 1.05, 95% confidence interval 0.89 to 1.23). The rate ratio varied with type of anomaly and maternal age (deprivation rate ratio adjusted for maternal age: 1.43 (1.17 to 1.74) for non-chromosomal anomalies; 0.85 (0.63 to 1.15) for chromosomal anomalies). Of the nine anomalies, 86% were detected in the antenatal period, and there was no evidence that this varied with deprivation (rate ratio 0.99, 0.84 to 1.17). The rate of termination after antenatal diagnosis of a congenital anomaly was lower in the most deprived areas compared with the least deprived areas (63% v 79%; rate ratio 0.80, 0.65 to 0.97). Consequently there were significant socioeconomic inequalities in the rate of live birth and neonatal mortality associated with the presence of any of these nine anomalies. Compared with the least deprived areas, the most deprived areas had a 61% higher rate of live births (1.61, 1.21 to 2.15) and a 98% higher neonatal mortality rate (1.98, 1.20 to 3.27) associated with a congenital anomaly. CONCLUSIONS: Antenatal screening for congenital anomalies has reduced neonatal mortality through termination of pregnancy. Socioeconomic variation in decisions regarding termination of pregnancy after antenatal detection, however, has resulted in wide socioeconomic inequalities in liveborn infants with a congenital anomaly and subsequent neonatal mortality.

Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit.

OBJECTIVE: To determine the perinatal outcomes of the first 1057 cases seen at a fetal management unit (FMU). METHODS: Record linkage of FMU data with the Victorian Birth data and the Victorian Births Defects Register (BDR). RESULTS: Ninety-nine percent of cases were followed up with 811 (77%) linked to the BDR and 202 (22%) linked to the birth data. Almost two-thirds of cases with birth defects (528) were live births surviving 28 days, 52 (6%) were neonatal deaths, 26 (3%) were stillbirths and 205 (25%) were terminations. The birth defects most prevalent were of the heart/circulatory system (31%). Cases that resulted in a termination were significantly more likely to have multiple birth defects [OR 2.43 (95% CI 1.70, 3.48)], a chromosomal birth defect [OR 3.30 (95% CI 1.96, 5.57)], a lethal birth defect [OR 1.32 (95% CI 1.25, 1.38)], or a syndrome [OR 4.81 (95% CI 2.54, 9.11)]. In this setting, 61% of cases of Down syndrome resulted in a live birth. CONCLUSION: Over three-quarters of cases referred to the FMU were confirmed with a birth defect and notified to the BDR. Notably, two-thirds of the cases (with or without a birth defect) were live births surviving 28 days.

The diagnostic accuracy of external pelvimetry and maternal height to predict dystocia in nulliparous women: a study in Cameroon.

OBJECTIVE: In many developing countries, most women deliver at home or in facilities without operative capability. Identification before labour of women at risk of dystocia and timely referral to a district hospital for delivery is one strategy to reduce maternal and perinatal mortality and morbidity. Our objective was to assess the prediction of dystocia by the combination of maternal height with external pelvimetry, and with foot length and symphysis-fundus height. DESIGN: A prospective cohort study. SETTING: Three maternity units in Yaoundé, Cameroon. POPULATION: A total of 807 consecutive nulliparous women at term who completed a trial of labour and delivered a single fetus in vertex presentation. METHODS: Anthropometric measurements were recorded at the antenatal visit by a researcher and concealed from the staff managing labour. After delivery, the accuracy of individual and combined measurements in the prediction of dystocia was analysed. MAIN OUTCOME MEASURES: Dystocia, defined as caesarean section for dystocia; vacuum or forceps delivery after a prolonged labour (>12 hours); or spontaneous delivery after a prolonged labour associated with intrapartum death. RESULTS: Ninety-eight women (12.1%) had dystocia. The combination of a maternal height less than or equal to the 5th percentile or a transverse diagonal of the Michaelis sacral rhomboid area less than or equal to the 10th percentile resulted in a sensitivity of 53.1% (95% CI 42.7-63.2), a specificity of 92.0% (95% CI 89.7-93.9), a positive predictive value of 47.7% (95% CI 38.0-57.5) and a positive likelihood ratio of 6.6 (95% CI 4.8-9.0), with 13.5% of all women presumed to be at risk. Other combinations resulted in inferior prediction. CONCLUSION: The combination of the maternal height with the transverse diagonal of the Michaelis sacral rhomboid area could identify, before labour, more than half of the cases of dystocia in nulliparous women.

Influence of prenatal diagnosis and pregnancy termination of fetuses with birth defects on the perinatal mortality rate in Victoria, Australia.

Historical data show that in Victoria birth defects have accounted for approximately 25% of all perinatal deaths. Terminations of pregnancies (TOPs) for birth defects occurring at > or =20 weeks gestation are included in the population-based perinatal data collection. These are classified as stillbirths or neonatal deaths. Some would have survived the perinatal period if no termination had taken place, and as a result they have the effect of increasing the perinatal mortality rate (PMR). Conversely, TOPs <20 weeks gestation, of fetuses with lethal birth defects that would have resulted in a perinatal death, are not included in the statistics and therefore reduce the PMR. The aim of this study was to examine the effect on the PMR of TOPs following the prenatal detection of birth defects, taking into account the severity or 'lethality' of the birth defects. Data on live births, stillbirths, neonatal deaths and TOPs carried out because of a birth defect were collected from the Victorian Birth Defects Register (BDR) for 1989-2000. Birth defects were categorised into three groups, according to the estimated likelihood of a baby with that condition dying in the perinatal period: a 'lethal' birth defect was one where there was >50% likelihood of death, 'possibly lethal' 15-50% and 'non-lethal' less than 15%. Based on these 'lethality' groups and associated assumptions about average survival rates beyond the neonatal period, the PMR was recalculated. TOPs for 'non-lethal' birth defects at > or =20 weeks gestation increased the PMR by 3.8%. TOPs for 'lethal' birth defects <20 weeks decreased the PMR by 14.4%. The net effect on the overall PMR from TOPs for birth defects was a 10.6% decrease.

Outcome in prenatally diagnosed fetal agenesis of the corpus callosum.

This study of the outcome and prognostic factors in prenatally diagnosed agenesis of the corpus callosum (ACC) was undertaken to see if there are any differences between subgroups, what relationship they have to neurodevelopmental outcome and whether this information aids the counselling of parents of fetuses with the condition. The outcome of 14 prenatally diagnosed fetuses with ACC and 61 postnatally diagnosed patients was assessed in terms of clinical problems, developmental milestones and neurological signs; each patient was then given a score out of 10, 0 being a normal outcome and 10 being the worst outcome, i.e. death or termination of pregnancy. Comparing patients diagnosed pre- and postnatally, several similarities were found indicating that the postnatal group can provide useful information about the prenatal group. There was a higher incidence of ACC in males than females. In the prenatally diagnosed patients complete ACC was more common than partial ACC, although this might be because partial ACC was easily missed. Complete ACC has a worse prognosis than partial ACC (p = 0.001), and when associated with other anomalies, especially of the central nervous system, the outcome is very bad (p < 0.01). The only neurodevelopmentally normal patients were in the isolated partial ACC group. This study highlights the need to perform a detailed review of fetal anatomy and the desirability of determining the karyotype of the fetus in all newly diagnosed cases of ACC so that as much information as possible is available before parents are counselled about the likely outcome.