Outcome of pregnancies complicated by oligohydramnios or anhydramnios of renal origin.

OBJECTIVE: To evaluate the outcome of fetuses with oligohydramnios due to kidney anomalies. METHODS: A retrospective study was performed of all pregnancies diagnosed with oligohydramnios and associated kidney anomalies during the period 2000-2008. Outcome included pregnancy outcome, mortality, and morbidity. Morbidity included renal function based on the glomerular filtration rate (GFR) during follow-up. RESULTS: A total of 71 pregnancies were evaluated; 36 fetuses presented on ultrasound with cystic dysplasia, 15 with polycystic kidney disease (PKD) and 20 with hydronephrosis. Twenty-three (32%) had associated anomalies. In 49 fetuses (69%), the diagnosis had been made before 24 weeks of gestational age (GA); 41 of those pregnancies were terminated. Twenty-five neonates were live born: 10 survived, 15 died. Prognostic factors for survival included GA at diagnosis (32.2 weeks for survivors vs 28.1 weeks for non-survivors; P = 0.02), diagnosis of hydronephrosis (7 in the survivors vs 4 in the non-survivors: P = 0.05), isolated anomaly (9 in the survivors vs 7 in the non-survivors: P = 0.04). Severity of oligohydramnios (1 case of anhydramnios in the survivors vs 7 in the non-survivors: P = 0.08) was not significant. The 1-year GFR was below 50 mL/min.1.73 m(2) in four of the ten survivors. CONCLUSION: The prognosis of early onset renal oligohydramnios is poor. Predictive determinants of survival are: GA at diagnosis, nature of renal anomaly (hydronephrosis vs other), and presence of associated anomalies.

Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula.

OBJECTIVES: Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolated versus nonisolated EA. METHODS: In a retrospective data analysis, ultrasound characteristics, maternal and neonatal variables as well as clinical outcome were compared for fetuses/neonates with prenatal (n = 30) or postnatal (n = 49) diagnosis of EA. Clinical outcome in terms of morbidity and mortality of isolated EA was compared with that of EA complicated by chromosomal or structural anomalies. RESULTS: Prenatally diagnosed children were born 2 weeks earlier than postnatally diagnosed children (36.4 weeks vs 38.2 weeks; P = 0.02). The former had higher mortality rates (30 vs 12%; P = 0.05) and more associated anomalies (80 vs 59%; P = 0.04). In both subsets, there was a high morbidity rate in the survivors (not significant). Nonisolated EA was associated with greater occurrence of polyhydramnios (53 vs 27%; P = 0.04) and higher mortality rate (28 vs 0%; P = 0.002). CONCLUSIONS: Mortality was significantly higher in prenatally diagnosed infants and in infants with additional congenital anomalies. Isolated EA is associated with good outcome.

Cornelia de lange syndrome: a recognizable fetal phenotype.

We describe a fetus with Cornelia de Lange syndrome diagnosed after termination of pregnancy at 21 weeks. Prenatally, growth retardation, diaphragmatic hernia, cystic hygroma and a right hand with only three rays were diagnosed by ultrasound in the second trimester of pregnancy. Postnatal magnetic resonance imaging confirmed the prenatal findings, and the presence of the typical dysmorphic features led to the diagnosis of Cornelia de Lange syndrome. The diagnosis was confirmed by the finding of a truncating mutation in the NIPBL gene. This case illustrates that the diagnosis Cornelia the Lange syndrome can be suspected prenatally in the second trimester, and can be diagnosed in fetuses after induction or newborns at birth as the typical phenotype is present early.

[Sonomarkers: subtle ultrasound findings in the 20-week ultrasound examination, which have a low association with some chromosomal and non-chromosomal abnormalities in the fetus]. / Sonomarkers: subtiele echoscopische bevindingen op de 20-wekenecho, die zwak correleren met enkele chromosomale en niet-chromosomale afwijkingen bij de foetus.

Currently all pregnant women residing in the Netherlands are offered second trimester ultrasound screening for the detection of fetal congenital structural abnormalities. This routine ultrasound examination takes place at 18 to 22 weeks' gestation. The ultrasound examination may yield soft markers, which are characterized by subtle morphological changes that are often transient and have little or no pathological significance. Soft markers are of interest because of their association with fetal congenital anomalies, in particular aneuploidy. This may create uncertainty for the pregnant woman and the care provider. Information can be found in the literature about the strength of the association of soft markers, when detected as an isolated finding, and the presence of fetal abnormalities. One or more soft markers are detected during routine ultrasound in approximately 5% of pregnant women. 4 markers (echogenic intracardiac focus, echogenic bowel, mild ventriculomegaly and shortened femur) are associated with Down syndrome. Given the low prevalence of Down syndrome in the general population and the relatively low strength of association with the syndrome, the positive predictive value of these markers is very low. The same is true for choroid plexus cysts, which are associated with trisomy 18. Apart from chromosomal abnormalities, some soft markers (echogenic bowel, mild ventriculomegaly and shortened femur) are also associated with non-chromosomal fetal abnormalities. Renal pyelectasis and the 2-vessel (instead of 3-vessel) umbilical cord are associated with non-chromosomal abnormalities only. It is recommended that pregnant women be informed about the nature and implications of these findings before the examination.

Isolated or non-isolated duodenal obstruction: perinatal outcome following prenatal or postnatal diagnosis.

OBJECTIVES: To determine whether the pre- or postnatal diagnosis of either isolated or non-isolated duodenal obstruction (DO) is associated with different outcomes. METHODS: A single-center retrospective analysis was carried out of 91 cases diagnosed with a DO between January 1991 and June 2003. Data on the diagnosis, treatment and outcomes of the cases were gathered, and differences between the groups were analyzed. RESULTS: Twenty-eight cases of DO were diagnosed before and 63 after birth. Of 15 presumed isolated cases in the prenatally diagnosed group, four revealed associated or chromosomal anomalies after birth. The types of obstruction present were significantly different between the prenatally (n = 11) and postnatally (n = 27) detected subsets of isolated DO. The prenatally detected subset displayed a lower median gestational age at delivery, lower median birth weight and a higher prematurity rate (8/11 vs. 8/27). The diagnosis of DO occurred significantly later in the postnatally detected subset than the postnatal confirmation of the diagnosis in the prenatally detected cases. In the non-isolated cases of DO, no difference was found in the type of chromosomal or associated anomaly or the type of obstruction between the prenatally detected (n = 17) and postnatally detected subsets (n = 36). Trisomy 21 was present in 7/17 (41%) vs. 22/36 (61%) cases, respectively. Two terminations and three intrauterine deaths occurred in the prenatal non-isolated subset. The liveborn infants from the prenatally detected non-isolated subset (n = 12) showed a significantly higher prematurity rate (9/12 vs.14/36), lower median birth weight and earlier confirmation of diagnosis after delivery. After surgery, outcome was similar between both subsets of isolated and non-isolated DO. All the infants with an isolated DO survived. Neonatal death occurred in three prenatally and five postnatally diagnosed cases with non-isolated DO. CONCLUSIONS: The outcome of prenatally and postnatally diagnosed DO is not essentially different despite more prematurity and a lower birth weight in the former. Of the prenatally detected cases of DO assumed to be isolated, 25% revealed additional chromosomal or associated anomalies after delivery, which influenced outcome.

Three-dimensional sonography of prenatal skull base development.

OBJECTIVE: To explore longitudinally the development of the fetal skull base using three-dimensional (3D) sonography. METHODS: Serial 3D sonographic measurements of anterior skull base length, posterior cranial fossa length and skull base angle were made in 126 normal singleton pregnancies at 18-34 weeks of gestation. In a sub-study of 22 pregnancies, intraobserver variability was determined. Regression analysis for repeated measurements was performed by means of the random coefficients model. Results from an earlier publication on brain volume were extended to the total patient cohort. RESULTS: Measurements were technically successful in 69-94% of cases. The coefficient of variation for differences between repeated tests within women was 3.5-7.6% and between repeated analyses of the same recorded volume it was 3.0-5.1%. A statistically significant gestational age-related increase was established for both the anterior skull base length and the posterior cranial fossa length and the skull base angle showed a small but significant flexion of about 6 degrees . A higher increment in posterior cranial fossa length relative to anterior skull base angle was established. A significant quadratic relationship could be established for both anterior skull base length (P < 0.0001) and posterior cranial fossa length (P < 0.0001) but not for skull base angle, relative to brain volume. CONCLUSION: The reproducibility was acceptable for all fetal skull base measurements. The more pronounced growth in posterior cranial fossa length relative to anterior skull base length is influenced by brain growth. The small flexion of the skull base angle, however, may be caused by other factors. Published by John Wiley & Sons, Ltd.

Congenital talipes equinovarus: comparison of outcome between a prenatal diagnosis and a diagnosis after delivery.

OBJECTIVES: To establish the impact on outcome of prenatally versus postnatally detected talipes equinovarus (TEV). METHODS: The prenatal group was represented by pregnancies with sonographically detected TEV of which 18 were isolated and 39 were complex. The postnatal group contained 64 infants with an isolated and 10 infants with a complex TEV detected at birth. Treatment consisted of redressement followed by surgical postero-lateral or postero-medial release at the University Paediatric Orthopaedic Centre. The postnatal isolated TEV group underwent redressement treatment at the University Centre (subset A, n = 39) or at a regional general hospital (subset B, n = 25). RESULTS: For isolated TEV, statistically significant difference existed for the surgical procedure (p < 0.001), age at surgery (p < 0.01) and admission time (p < 0.001) between the prenatal and postnatal subset B and between the postnatal subsets A and B. For the complex TEV, no significant difference was found for these variables between the six surviving infants of the prenatal group and the postnatal group. CONCLUSION: Prenatal detection of isolated TEV results in earlier and less complicated postnatal surgery and a shorter admission time, provided treatment is arranged at a paediatric orthopaedic centre. After prenatal detection of a complex TEV, survival is low and determined by associated anomalies.

[Prenatal investigations for Down's syndrome: medical-technical considerations and dilemmas arising from current screening methods]. / Prenataal onderzoek naar downsyndroom: medisch-technische overwegingen en dilemma's voortkomend uit de huidige toepassingsmogelijkheden.

Prenatal investigations can be divided into specific diagnostic investigations i.e. chorionic villus sampling, amniocentesis and selective ultrasonography for the detection of fetal abnormality, and screening tests which estimate the chances of the condition being present. These include routine ultrasonography and tests based on biochemical and echoscopic markers. Amniocentesis is the most reliable test to detect chromosomal anomalies, but is associated with a low risk of miscarriage and the results are known only relatively late in pregnancy. Implementing the prenatal screening tests will enable the better identification of those women with an increased risk of chromosomal anomalies, and consequently to fewer invasive diagnostic procedures. The choice whether to have prenatal screening should always be made by the parents after they have been told of the advantages and disadvantages of these investigations.

Long-term mortality of chest pain patients managed according to a decision scheme that aims to avoid inappropriate hospitalisations.

OBJECTIVE: A triage decision scheme was developed to avoid unnecessary hospitalisations for suspected acute coronary syndromes. The current investigation aimed at evaluating the long-term survival of patients who were managed according to this scheme. SUBJECTS: Patients (n=964) with symptoms suggestive of acute cardiac pathology, who were seen by a general practitioner, and for whom a pre-hospital ECG was recorded by the ambulance service in 1993-1994. METHODS: During the year 2000 a follow-up of the entire cohort was performed, and the vital status of patients was determined via the civil registry office. Cox's multivariable regression analyses were performed to evaluate the relation between final (hospital discharge) diagnosis and long-term outcome. RESULTS: The median follow-up was 6.0 years (4.6-6.6). Six-year mortality of the entire cohort was 30%. Long-term mortality was significantly lower in patients identified to be at low risk, who are not hospitalised, than in hospitalised patients (six-year mortality 7.5% versus 33.1%; p<0.0001). Longterm outcome was strongly associated with the final hospital discharge diagnosis. CONCLUSION: Our data support the usefulness and appropriateness of the applied diagnostic scheme that aims to avoid unjustified hospital and CCU admissions in patients with acute chest pain.

[Indications for in vitro fertilization: comparison of the Dutch guidelines with the published evidence]. / Indicaties voor in-vitrofertilisatie: vergelijking van de Nederlandse richtlijnen met de gepubliceerde onderzoeksresultaten.

The guideline 'Indications for in vitro fertilisation (IVF)' of the Dutch Society for Obstetrics and Gynaecology (Dutch acronym: NVOG) reports limited international evidence on this subject. A review of the published studies of effectiveness and cost-effectiveness shows that the possibilities to compare the studies and to translate the results to the diagnostic indications according to the Dutch guideline are indeed limited. This is due to differences in the study-populations, different outcome measures and differences in the severity of the underlying pathology. The results of foreign cost-effectiveness studies cannot easily be generalised to the Dutch situation due to differences in the consumption of medical care, the policy as to indications and the price-structure. For the indications inoperable tubal pathology and, to a lesser extent, severe male subfertility there is sufficient evidence-based support for the (cost-)effectiveness of IVF or intracytoplasmic sperm injection (ICSI) in comparison to waiting for spontaneous pregnancy to occur. There is insufficient current literature to support recommendations for the other causes of infertility as given in the Dutch guideline.