Modeling Down syndrome screening performance using first-trimester serum markers.

OBJECTIVE: To evaluate the modeled predictive value of three current screening markers (pregnancy-associated plasma protein-A (PAPP-A), free ß-human chorionic gonadotropin (free ß-hCG), and nuchal translucency (NT)) and four potential screening markers (a disintegrin and metalloprotease 12 (ADAM12), total hCG, placental protein 13 (PP13), and placental growth factor (PlGF)) for Down syndrome using different screening strategies. METHODS: All markers were measured in stored first-trimester serum of 151 Down syndrome cases and 847 controls. All marker levels were expressed as gestational age-specific multiples of the median (MoMs) and comparisons were made using the Mann-Whitney U-test. Detection rates (DRs) for fixed false-positive rates (FPRs) were modeled using different screening strategies. RESULTS: Significantly different median MoMs for Down syndrome cases compared to controls were found for PAPP-A (0.49 vs. 1.00; P < 0.0001), free ß-hCG (1.70 vs. 1.01; P < 0.0001), ADAM12 (0.89 vs. 1.00; P < 0.0001), total hCG (1.28 vs. 1.00; P < 0.0001), PlGF (0.80 vs. 1.00; P < 0.0001) and NT (1.74 vs. 1.01; P < 0.0001). The lower PP13 MoM in Down syndrome cases (0.91 vs. 1.00) was not statistically significant (P = 0.061). Adding the four new markers to the current screening strategy (i.e. first-trimester combined test) led to an increase in DR from 77% to 80% at a 5% FPR. The modeled application of a two-sample screening strategy (with some markers assessed early and others later in the first trimester) increased the DR to 89%. In a two-step contingent screening model, using an intermediate risk range of 1 in 100 to 1 in 2000 at biochemical screening (using all markers), the overall DR was 77%, but it was predicted that only 33% of women would require referral for NT measurement. CONCLUSIONS: First-trimester Down syndrome screening may be improved by adding new markers to the current screening test and by applying different screening strategies. The application of a two-sample screening model resulted in the highest predicted DR, but this should be confirmed in population-based prospective studies.

First-trimester placental protein 13 and placental growth factor: markers for identification of women destined to develop early-onset pre-eclampsia.

OBJECTIVE: To investigate the predictive value of maternal serum pregnancy-associated plasma protein A (PAPP-A), free ß subunit of human chorionic gonadotrophin (fß-hCG), placental protein 13 (PP13), placental growth factor (PlGF) and a desintegrin and metalloproteinase 12 (ADAM12), for first-trimester identification of early-onset pre-eclampsia. DESIGN: Nested case-control study. SETTING: Routine first-trimester screening for trisomy 21 in the Netherlands. POPULATION: Eighty-eight women who developed pre-eclampsia or haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome before 34 weeks of gestation and 480 controls. METHODS: PP13, PlGF and ADAM12 were measured in stored first-trimester serum, previously tested for PAPP-A and fß-hCG. All marker levels were expressed in multiples of the gestation-specific normal median (MoMs). Model predicted detection rates for fixed false-positive rates were obtained for statistically significant markers alone and in combination. MAIN OUTCOME MEASURES: Development of pre-eclampsia or HELLP syndrome. RESULTS: PP13 and PlGF were reduced in women with pre-eclampsia, with medians 0.68 MoM and 0.73 MoM respectively (P < 0.0001 for both). PAPP-A was reduced (median 0.82 MoM, P < 0.02) whereas ADAM12 and fß-hCG did not differ between control women and those with pre-eclampsia. In pre-eclampsia complicated by a small-for-gestational-age fetus, all markers except fß-hCG had lower values, compared with pregnancies involving fetuses of normal weight. The model-predicted pre-eclampsia detection rate for a combination of PP13 and PlGF was 44% and 54%, respectively, for a fixed 5% and 10% false-positive rate. CONCLUSION: This study demonstrates that PP13 and PlGF in the first-trimester might be promising markers in risk assessment for early pre-eclampsia/HELLP syndrome but for an adequate screening test additional characteristics are necessary.

Grade and symmetry of normal fetal cortical development: a longitudinal two- and three-dimensional ultrasound study.

OBJECTIVES: Recent studies have shown the capability of ultrasound to demonstrate fetal cortical development. For practical application, it would be useful to have more insight into the physiological progress of cortical folding. A longitudinal study was undertaken to grade fetal cortical development and to study physiological asymmetry by means of a simple scoring system. The reproducibility of the scoring system and the differences between two-dimensional (2D) and three-dimensional (3D) ultrasound were also examined. METHODS: A cohort of 28 patients was examined by 2D and 3D ultrasound from 20 to 40 weeks of gestation. The development of selected fissures, sulci and cortical areas were graded from 0 to 5. One examination per week of gestation was randomly selected for evaluation of intraobserver and interobserver variation. RESULTS: Two-hundred and fifteen ultrasound examinations were performed in 28 patients. The development of the different cortical areas is presented. The intraobserver and interobserver agreement for assessment of grade was good. Asymmetry was common between 24 and 28 weeks, especially in female fetuses. The right parieto-occipital fissure tended to be more advanced and the left calcarine and cingulate sulci tended to be more advanced. No clinically or statistically significant differences were found between 2D and 3D ultrasound. CONCLUSIONS: Evaluation of cortical development by means of a simple scoring system is feasible and reproducible. Asymmetrical development of sulci, previously only described in vitro, has now also been demonstrated in vivo. 3D ultrasound was equally accurate and repeatable and no more time consuming than 2D ultrasound.

Role of prenatal ultrasound in predicting survival and mental and motor functioning in children with spina bifida.

OBJECTIVE: To determine which prenatal ultrasound findings can predict survival and mental and motor functioning in children with spina bifida. METHODS: Prenatal ultrasound examinations of all liveborn children who were prenatally diagnosed with spina bifida between 1997 and 2002 at the University Medical Centre, Utrecht (n = 41) were retrospectively reviewed for lesion level, head circumference, ventriculomegaly, scoliosis and talipes. These measures were correlated with postnatal anatomical (as assessed by magnetic resonance imaging (MRI)) and functional lesion levels, survival and motor and mental outcome at 5 years of age. The capacity of prenatal ultrasonography to determine lesion level was also assessed in all fetuses diagnosed with spina bifida from 2006-2007 (n = 18). RESULTS: Nineteen infants died before the age of 5 years. Multivariate regression analysis showed that higher lesion level and head circumference > or = the 90th percentile on prenatal ultrasound examination were independent predictors of demise (P < 0.05 and P = 0.01, respectively). None of the ultrasound features was a predictor of motor or mental functioning. Ultrasound predicted anatomical lesion level within one level of the postnatal findings in 50% of the first cohort and 89% of the second cohort (P < 0.01). The level of the anatomical lesion as assessed by postnatal MRI differed from the functional lesion by as many as six vertebral levels. CONCLUSIONS: Lesion level and head circumference on prenatal ultrasound are predictive of survival in children with spina bifida. No predictors were found for mental or motor function at the age of 5 years.

Quality of nuchal translucency measurements in The Netherlands: a quantitative analysis.

OBJECTIVE: The Dutch Centre for Population Research has specified quality demands for nuchal translucency (NT) measurement in The Netherlands. We performed an analysis of the quality of NT measurement in 2005-2006 and its influence on screening performance. METHODS: This was a retrospective study of records of NT measurements (n = 27,738) obtained between January 2005 and December 2006 retrieved from the Dutch National Institute for Public Health and the Environment (RIVM). The performance of each individual operator was analyzed with regard to the quality standards, which involved calculation of operator-specific median NT-multiples of the median (MoM) values. For the entire population of operators, a curve was determined describing the relationship between crown-rump length and NT. Detection rates (DR) and false-positive rates (FPR) for Down syndrome were modeled with this new curve and compared to those originally obtained using previously published reference data. RESULTS: Only 22% of all operators met the quality requirement of performing more than 150 NT measurements per year. However, no relationship was found between the number of measurements per operator and their median NT-MoM. The mean of all operator-specific median NT-MoM values was 0.94 (target value 1.0). Overall, operators with The Fetal Medicine Foundation certificate measured a significantly higher median NT-MoM (mean of operator-specific medians, 0.98) as compared to the non-certified operators (0.92). During the study period, the monthly median NT-MoM of all operators rose steadily, from 0.86 in January 2005 to 0.96 in December 2006. Recalculation of the risk for Down syndrome after adjusting the reference NT medians using our own data led to a modeled 4% increase in DR at a 5% FPR. CONCLUSION: Improved monitoring of NT measurement put into effect during the study period seems to have led to an improvement in the accuracy of measurements. Strict quality demands, continued monitoring and scrupulous evaluation of individual operators is likely to lead to an even better performance.

ADAM12s as a first-trimester screening marker of trisomy.

OBJECTIVE: To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS: Serum samples were collected between 2004 and 2007 as part of the national program. A total of 218 singleton cases of trisomy 21 (DS), 62 trisomy 18 (Edwards syndrome) and 29 trisomy 13 (Patau syndrome) were identified. All cases were matched with controls for gestation, maternal weight and maternal age. The serum concentration of ADAM12s was determined 'blind' to outcome and expressed in multiples of the gestation-specific median for controls (MoM). RESULTS: The median ADAM12s was 1.00 MoM in controls and in the DS cases at 8, 9, 10, 11, 12, 13 weeks it was 0.45 (n = 3), 0.73 (22), 0.74 (53), 0.85 (37), 0.92 (71), 1.06 (32) MoM, respectively. The median for trisomy 18 was 0.85 MoM and for trisomy 13 0.63 MoM. CONCLUSION: The ADAM12s MoM values were clearly reduced in early first-trimester for all trisomies. However, the screening performance for DS did not greatly improve adding ADAM12s. ADAM12s could be an additional biochemical marker for first-trimester screening for trisomies other than DS.

Transvaginal ultrasound measurement of cervical length in the supine and upright positions versus Bishop score in predicting successful induction of labor at term.

OBJECTIVES: To examine the predictive value of cervical length as measured by transvaginal sonography (TVS) in supine and upright maternal positions for the mode of delivery and induction-to-delivery interval after induction of labor at term, and to compare these measurements with the Bishop score and its predictive value. METHODS: TVS for cervical length measurement in the supine and upright positions and digital examination of the cervix were performed in 68 nulliparous and 34 parous women before induction of labor at term. In assessing the predictive value of the Bishop score and TVS parameters for a vaginal delivery after labor induction only nulliparous women were included in the analysis, since all the parous women delivered vaginally. Both nulliparous and parous women were included in the analysis of the induction-to-delivery interval. The method of labor induction, oxytocin or prostaglandin, was determined on the basis of the pre-induction Bishop score. RESULTS: Logistic regression analysis showed in nulliparous women that only the cervical length measured in the upright position was a significant predictor of the need for Cesarean section (odds ratio 1.14; 95% CI, 1.02-1.27). The areas under the receiver-operating characteristics curve in predicting the need for Cesarean section because of failure to progress were higher for the cervical length, both in supine and upright positions, than for the Bishop score (0.66, 0.68 and 0.46, respectively). Only the Bishop score correlated significantly with the induction-to-delivery interval in both nulliparous and parous women. However, this may have been due to a selection bias, as no significant correlation with Bishop score was found when the oxytocin and prostaglandin induction-to-delivery intervals were analyzed separately. CONCLUSION: Our results suggest that maternal postural change might improve the accuracy of sonographically-measured cervical length for predicting a vaginal delivery after induction of labor at term. However, our results need to be confirmed in a larger and more homogeneous population.

Transperineal versus transvaginal sonographic cervical length measurement in second- and third-trimester pregnancies.

OBJECTIVE: To investigate the reliability of, and patient satisfaction with, transperineal cervical length measurement during the third trimester of pregnancy and to compare these with measurement during the mid-trimester, using transvaginal sonographic imaging of the cervix as a reference. METHODS: Women attending an outpatient clinic for cervical length measurement before 29 weeks or after 35 weeks of gestation were examined by transvaginal and transperineal ultrasound and the results compared. Preference for either method was indicated by both sonographers and patients. RESULTS: Seventy-one patients participated in the study, 23 in the second and 48 in the third trimester of pregnancy. There was failure to obtain a clear image on transperineal ultrasound in 30% of mid-trimester pregnancies, and in 19% of third-trimester cases. Elevation of the patient's hips improved the image in five out of 10 women in whom the scan was repeated following a postural change. Transvaginal cervical length measurements could be obtained in all cases. There was a strong correlation between transvaginal and transperineal measured cervical length (Pearson's correlation coefficient = 0.85). Sonographers preferred transvaginal images of the cervix irrespective of whether they were obtained in the second or third trimester. Transperineal ultrasound was judged as not or mildly painful by most women, but transvaginal ultrasound was preferred. CONCLUSIONS: Transvaginal ultrasound is the least painful, most feasible, and probably most accurate method with which to measure cervical length in the third trimester of pregnancy. Transperineal ultrasound is a feasible alternative, although its application in clinical practice is restricted by the need for an experienced sonographer.

Sonographic longitudinal cervical length measurements in nulliparous women at term: prediction of spontaneous onset of labor.

OBJECTIVE: The aim of this study was to predict spontaneous onset of labor by serial transvaginal ultrasound measurement of cervical length (CL) in a homogeneous population of nulliparous women at term. METHODS: 162 nulliparous women with singleton fetuses in cephalic presentation were examined at weekly intervals from 36 weeks' gestation to delivery. CL was measured by transvaginal ultrasound in the supine and upright positions. RESULTS: There was a significant decrease in CL in the last 12 days prior to delivery. However, this decrease was small with substantial variation between individuals. Women with spontaneous onset of labor could be divided into three different groups: those with unchanged CL before delivery; those with a fall in CL in the last 2 weeks prior to delivery; and those with a gradual change in CL starting before the last 2 weeks prior to delivery. A single CL measurement below 30 mm between 37 and 38 weeks of gestation predicted spontaneous onset of labor before 41 weeks' gestation with a sensitivity of 46%, specificity of 78%, positive predictive value (PPV) of 82%, negative predictive value (NPV) of 40% in the supine position; and sensitivity of 53%, specificity of 72%, PPV of 81%, NPV of 40% in the upright position. CONCLUSION: Between 37 and 38 weeks' gestation, spontaneous onset of labor before 41 weeks can be predicted by a CL measurement, but with low sensitivity and NPV. Inter-individual variations in CL and in CL changes are large, which hampers the value of single and repeated CL measurements for the prediction of spontaneous onset of labor at term.

Lack of standardization in determining gestational age for prenatal screening.

OBJECTIVES: To determine whether estimation of gestational age (GA) in the context of first-trimester Down syndrome screening is standardized in the Netherlands. METHODS: This was a retrospective study, carried out between January 2005 and December 2006, of women who underwent first-trimester Down syndrome screening (n = 40,730) based on GA, maternal serum analysis and nuchal translucency (NT) measurement. Date of the last menstrual period (LMP), dating scan information including measurement of crown-rump length (CRL), NT thickness and name of the sonographer were recorded for all pregnancies. The accuracy of estimation of GA was evaluated by comparing the GA based on the LMP with that estimated from the CRL, using relevant subsets of the database. A survey of 104 sonographers was performed to further investigate the findings of the preceding analysis. RESULTS: In 44% of all first-trimester combined tests the estimation of GA was based on the dating scan; the method of determination of GA was unknown in 23%. In 15% of all cases a dating scan was recorded but was not used to provide the estimation of GA at blood sampling. Detailed analysis showed that a consistent methodology for the estimation of GA from CRL was not maintained within hospitals and obstetric practices. For a single CRL, the reported GA differed by up to 10 days. Finally, it was demonstrated that individual sonographers reported different GAs for a given CRL. CONCLUSIONS: Currently, estimation of GA in the first trimester in the Netherlands is not standardized. To improve the performance of prenatal screening for Down syndrome, estimation of GA should be based on ultrasound examination, with one nationally accepted CRL curve.

Aortico-right ventricular tunnel: prenatal diagnosis leading to neonatal survival.

In the 36th week of gestation a large aortico-right ventricular tunnel with an otherwise structurally normal heart was diagnosed by fetal echocardiography. This report describes for the first time the impact of the timely prenatal diagnosis of an aortico-right ventricular tunnel followed by successful management in early infancy.

Concomitant anomalies in 100 children with unilateral multicystic kidney.

OBJECTIVES: To determine the incidence and type of associated urogenital anomalies in children with a unilateral multicystic kidney and to assess in children with nephrectomy the additional diagnostic value of cystoscopy and, in girls, of colposcopy. METHODS: This was a follow-up study of 100 fetuses with antenatally detected unilateral multicystic kidneys. After ultrasound confirmation of the diagnosis within a few days after birth voiding cystourethrography and isotope scan were performed in 83 of the surviving children to exclude vesicoureteral reflux and to establish renal function. Eighty-one children underwent nephrectomy and, prior to surgery, all underwent cystoscopy and girls also underwent colposcopy. RESULTS: Seventy-five children had one or more additional urogenital anomalies: 39 had anomalies of the contralateral kidney, 40 had anomalies of the ipsilateral kidney and 30 had one or more anomalies of the lower urogenital tract. With cystoscopy 54 anomalies of the genitourinary tract were detected in 48 children and with colposcopy three anomalies were detected in 35 girls. Eighty-one children had a nephrectomy or heminephrectomy and 33 of them needed other urological intervention. Thirteen fetuses died (mostly from agenesis of the contralateral kidney) and six infants had no surgery at all. CONCLUSION: Children with a unilateral multicystic kidney are at considerable risk of having other urogenital anomalies. When cystoscopy and colposcopy are added to routine investigations the rate of detection of anomalies is 75%, twice that reported in the literature.

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.

Treatment of fetal heart block with maternal steroid therapy: case report and review of the literature.

The presence of maternal autoantibodies to SS-A/Ro and/or SS-B/La is associated with the development of fetal heart block. There are data suggesting that maternal treatment with steroids might reverse heart block. We report on a pregnancy in a mother with secondary Sjögren syndrome and systemic lupus erythematosus with presence of autoantibodies to SS-A/Ro and SS-B/La, which was complicated by the development of incomplete fetal heart block. Oral dexamethasone treatment could not prevent progression to complete heart block and was associated with a number of complications.A review of the literature revealed 19 studies (including ours) in which 93 cases of fetal heart block were treated with maternal steroid therapy. Complete heart block proved irreversible in all cases; and of 13 fetuses with incomplete heart block which received maternal steroid therapy, three had a reduction in their degree of block and one reverted to sinus rhythm. Maternal steroid therapy, initiated early in pregnancy and potentially preventing the onset of heart block, did not decrease the incidence of heart block in nine studies with 43 cases. Furthermore, the literature review revealed numerous serious side effects of maternal steroid administration during pregnancy. Data on these potential side effects are lacking in the 28 studies discussed in this review. Maternal dexamethasone therapy to prevent or treat fetal heart block remains, in our opinion, a questionable intervention and can as yet not be recommended in the clinical situation.

Neurological outcome of children who were treated for fetal tachycardia complicated by hydrops.

OBJECTIVE: Fetal tachycardia is a condition associated with congestive heart failure and development of fetal hydrops, which may result in neurological morbidity and mortality. The aim of this study was to investigate the long-term outcome of hydropic fetuses. METHODS: This was a retrospective study on cognitive and neurological functioning of 11 infants, aged 6 months to 12 years, who experienced fetal tachycardia complicated by hydrops. RESULTS: Seven fetuses had supraventricular tachycardia (SVT), three had atrial flutter (AF) and one had ventricular tachycardia (VT). Nine fetuses converted to sinus rhythm within a mean time of 8.2 days of presentation; resolution of hydrops was achieved in six of these patients in a mean time of 8.8 days. Mean gestational age (GA) at birth was 35 + 4 weeks. Neonatal cranial ultrasound was normal in seven infants and all but one of these were normal at follow-up: one infant who initially had no abnormalities developed multiple cerebral lesions as a result of a malignant long QT syndrome (LQTS) and died at the age of 2 years. Three infants had periventricular echogenicity (PVE) on neonatal cranial ultrasound, associated with a pseudocyst in one infant. The remaining infant showed a parenchymal hemorrhage of antenatal onset, seen as a porencephalic cyst at birth. One of these infants was normal at follow-up, one died 2 days after birth and two infants had neurological abnormalities at follow-up, consisting of mild hemiplegia with normal cognitive function in one, and a cognitive developmental delay in the other. CONCLUSIONS: In this study, neurological outcome was good in eight out of 11 infants. Initiation of therapy should not be withheld or delayed on the assumption of poor neurological outcome.

Persistent junctional reciprocating tachycardia in the fetus.

BACKGROUND: Persistent junctional reciprocating tachycardia (PJRT) tends to be a persistent arrhythmia and requires aggressive therapeutic management. Diagnosis and management of this infrequently occurring tachycardia in the fetus at an early stage is of importance for the prevention of congestive heart failure (CHF). METHODS: A retrospective study of four fetuses with supraventricular tachycardia (SVT) of the PJRT type was performed. RESULTS: All had sustained SVT (mean of 228 beats/min) at a mean gestational age of 34 + 5 weeks, with CHF present in two. Three fetuses had prenatal characteristics of PJRT on M-mode echocardiography with a ventriculoatrial (VA)/atrioventricular ratio of > 1 on M-mode echocardiography suggesting a slow conducting accessory pathway. All four fetuses had postnatal confirmation of the diagnosis. Transplacental treatment with flecainide was effective in one patient; sotalol as a single drug or in combination with digoxin was partially effective in the remaining three. Two developed sinus rhythm, with short intermittent periods of tachycardia and decreasing signs of CHF; one case showed a minimal decrease in heart rate. Oral propranolol therapy converted two patients postnatally; in the remaining two patients radiofrequency ablation was performed at the age of 5 months and 6 years. CONCLUSIONS: The characteristics of our prenatal PJRT cases included a sustained heart rate not exceeding 240 beats/min with a long VA interval, the presence of CHF and therapy resistance. Transplacental treatment should be initiated, possibly with a combination of sotalol and digoxin in non-hydropic cases, or flecainide, especially in case of fetal hydrops. Pharmacological therapy is to be preferred postnatally, but radiofrequency ablation seems to be indicated in therapy-resistant cases with CHF, even in the first months of life.

[Correlation between prenatal ultrasound diagnosis and findings from autopsies or neonatal operations due to structural congenital heart defects; a retrospective analysis]. / Samenhang van prenatale echografische diagnosen en bevindingen bij obductie of bij neonatale operatie wegens structurele congenitale hartafwijkingen; retrospectieve analyse.

OBJECTIVE: To determine the contribution of the prenatal ultrasound diagnosis of structural congenital heart defects to the care of patients requiring surgery for their condition in the neonatal period. DESIGN: Retrospective. METHOD: During the period January 1991-June 1999, data were collected from two groups of children. One group had a structural heart defect diagnosed prenatally and the other underwent a neonatal operation due to a heart defect. In the prenatal group, the management and follow-up were analysed, whilst in the surgery group, the extent to which ultrasound investigation had been performed and whether there was a relationship between prenatal diagnosis and the severity of acidosis were analysed. RESULTS: A structural heart defect was found through prenatal ultrasound in 170 children and 64% of these prenatally diagnosed patients died before or immediately after birth, or the pregnancy was aborted. 14% underwent surgery within 31 days post partum. This last category formed an overlap with the surgery group. The surgery group contained 191 patients, who required surgery in the neonatal period, including 24 from the prenatal group. In total, 87% had no prenatal diagnosis. In the group with a prenatal diagnosis pre-operative lactate values were significantly lower. CONCLUSION: The heart defect was only diagnosed prenatally in 13% of the patients from the surgery group, although this would have been technically feasible in 46%. Better prenatal diagnosis of heart disease could contribute to a better counselling of parents in their choice between abortion, conservative treatment or emergency surgery. In the case of emergency surgery, prenatal detection might lead to a decrease in morbidity and mortality.

Lactacidosis in the neonate is minimized by prenatal detection of congenital heart disease.

OBJECTIVES: To investigate the impact of prenatal detection of congenital heart disease on preventing severe preoperative lactacidosis. DESIGN: Patients operated upon for congenital heart disease during the first 31 days of life (n = 209) were studied retrospectively, 21 were diagnosed prenatally and 188 patients had not been diagnosed prenatally. Preoperative lactate, pH and base excess were evaluated. RESULTS: Differences were noted in preoperative pH (7.28 +/- 0.03 vs. 7.24 +/- 0.01, P = 0.29), base excess (-5.83 +/- 0.64 vs. -6.93 +/- 0.46 mmol/L, P = 0.10) and lactate (3.05 +/- 0.35 vs. 6.08 +/- 0.45 mmol/L, P < 0.001), indicating a significant difference in blood lactate values in favor of the prenatally diagnosed group. CONCLUSIONS: Prenatal diagnosis of congenital heart disease and the resulting immediate postnatal care prevent lactate increase in the preoperative period of these patients. This may decrease the risk of cerebral damage and result in the patient being in better condition at surgery.