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Biomedical subjects

J W Wladimiroff

Publications and source records attributed to J W Wladimiroff.

At least 19 recordsLinked to original sources
PubMed2003

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation.

The outcome of Down syndrome fetuses presenting with sonographic abnormalities in the second or third trimester is unclear. Therefore, we studied 55 pregnancies referred because of sonographically suspected fetal structural anomalies or growth retardation due to trisomy 21. A detailed ultrasound scan was performed in all cases to delineate the structural anomalies. Congenital heart malformations (CHMs) were diagnosed pre- and postnatally in 29 out of 55 Down fetuses (53%), with complete or incomplete atrioventricular septal defects (AVSDs) and ventricular septal defects (VSDs) being the most frequent anomalies. The most frequent noncardiac findings were a short femur (45%) and a small-for-gestational age (SGA) fetus (27%). Termination of pregnancy was carried out in 25 out of 55 pregnancies (45%). Of the 30 continued pregnancies, 10 ended with intrauterine death. The remaining 20 pregnancies resulted in the delivery of a live-born infant whose prognosis was poor, with a 1-year survival of only 60%. Combining intrauterine death and death in the first year indicated that the overall survival rate was only 40%. Fatal outcome was noted in 68% (13/19) in the presence of CHM, in 83% (10/12) in SGA fetuses, in 86% (6/7) in combined CHM and SGA, but only in 17% (1/6) in the absence of CHM and SGA. This study indictes that second- and third-trimester in utero diagnosis of Down syndrome has a poor outcome when associated with CHM and/or SGA. This is important in the genetic counseling of the parents.

Abortion, Induced↗
PubMed2003

EBCOG hospital visiting, a step forward in the quality assessment of training in obstetrics and gynaecology.

Since the start in 1996, over 30 hospital visits have been successfully conducted by the European Board and College of Obstetrics and Gynaecology (EBCOG) in more than 12 European countries. Hospital visiting is an important tool for raising training standards. EBCOG hospital visiting is voluntary, but its ultimate goal is a National Hospital Visiting Programme in each country within Europe. Some countries, following the initial process of visits by EBCOG have introduced their own hospital visiting system successfully, e.g. Norway and Portugal.

Education, Medical, Graduate↗
PubMed2003

Congenital diaphragmatic hernia: an evaluation of the prognostic value of the lung-to-head ratio and other prenatal parameters.

OBJECTIVES: A retrospective analysis of the prognostic significance of the lung-to-head ratio (LHR) and other prenatal parameters on the outcome of fetuses with left-sided congenital diaphragmatic hernia (CDH). METHODS: A total of 26 fetuses with isolated left CDH without chromosomal abnormalities were included. Twenty-one LHR measurements could retrospectively be calculated from the last available ultrasonographic recordings before birth. The relationship between LHR and fetal outcome and the gestational age dependency of this relation was tested. Cutoff levels as previously published were applied to determine their predictive value in this population. The association between other prenatal predictive variables and fetal outcome was also determined. Survival was defined as discharge from the hospital. RESULTS: The overall survival rate was 50%. There was a statistically significant difference between the mean LHR of the survivors compared to the mean LHR of the nonsurvivors (1.78 vs 1.02), whereas the mean gestational age of these two groups did not differ. LHR was not gestational age dependent in the prediction of fetal outcome. The cutoff levels LHR <1, 1-1.4, >1.4 showed a good applicability in the prediction of fetal outcome within the present study population with a 100% survival if LHR >1.4 and a 100% mortality if LHR <1. An intrathoracic position of the stomach, mediastinal shift, polyhydramnios as individual variables and early diagnosis (<25 weeks' gestation) revealed to be poor sonographic predictors for fetal outcome. CONCLUSION: LHR proved to be a good predictor for fetal outcome, independent of gestational age at the time of the measurement. To substantiate our observation, a prospective multicenter study is warranted.

Biometry↗
PubMed2003

Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands.

OBJECTIVE: To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. METHODS: A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was carried out in three university hospitals. The data were collected from databases and clinical records of the departments of prenatal diagnosis, obstetrics, neonatology, child neurology and neurosurgery of the three centers. RESULTS: Between January 1996 and December 1999, 88 cases of isolated open spina bifida were diagnosed prenatally by ultrasound investigation. Thirty-eight cases (43%) were diagnosed before the 24th week of gestation. Of these, 35 (92%) ended in termination of the pregnancy at the parents' request. Of the remaining 50 cases (57%) diagnosed after the 24th week of gestation, eight (16%) pregnancies were terminated beyond the legal limit for termination due to the severity of the condition. Of the 88 cases of isolated spina bifida, 25 infants (28%) were still alive at the age of 4 years. In the same audit period 112 newborn infants with isolated open spina bifida were admitted to the neonatology, child neurology, or neurosurgery ward of the three centers. Of these cases, 47 (42%) had been diagnosed prenatally and 65 (58%) were an unexpected finding at birth. In 24 infants (21%) surgical treatment was withheld because of the severity of the condition and predicted poor outcome, whereas the remaining 88 infants (79%) underwent surgical repair. CONCLUSION: The current practice in The Netherlands of offering ultrasound screening to high-risk patients only leads to the early detection of a minority of cases of spina bifida. Most cases are diagnosed either after the 24th week of gestation or they remain undiagnosed until after birth. When spina bifida is diagnosed before the 24th week of gestation the vast majority of parents opt for termination. In order to reduce the birth prevalence of spina bifida in The Netherlands the introduction of a policy of routine ultrasound screening should be considered.

Child, Preschool↗
PubMed2003

Fetal brain/liver volume ratio and umbilical volume flow parameters relative to normal and abnormal human development.

OBJECTIVES: To estimate fetal brain volume from head circumference and published postmortem data; to determine normal values for the fetal brain/liver volume ratio relative to gestational age; to establish the relationship between the brain/liver volume ratio and fetal circulatory parameters during normal and restricted (SGA) fetal growth. PATIENTS AND METHOD: This was a cross-sectional study involving a total of 47 uncomplicated pregnancies appropriate-for-gestational age (AGA) and 23 pregnancies resulting in the delivery of a SGA fetus. At enrollment gestational age ranged between 20 and 36 weeks in both groups. Umbilical venous cross-sectional area and time-averaged velocity for calculation of volume flow as well as velocity waveforms from the umbilical artery, middle cerebral artery and ductus venosus, were recorded. Fetal liver volume measurements were obtained using three-dimensional ultrasound. Fetal brain volume was estimated from fetal head volume following comparison with published postmortem data on fetal brain weight. RESULTS: A significant correlation was observed between prenatally estimated fetal head volume and postmortem fetal brain volume. Fetal brain volume was approximately half that of fetal head volume. The normal fetal brain/liver volume ratio demonstrated a significant reduction with gestational age (R = -0.54; P < 0.001). The normal mean +/- standard deviation (SD) fetal brain/liver volume ratio (3.4 +/- 0.7) was significantly different (P < 0.001) from the mean fetal brain/liver volume ratio in the SGA group (n = 23) (5.9 +/- 1.9). A significant difference existed for mean umbilical venous volume flow between AGA (104.7 +/- 26.9 mL/min/kg) and SGA (59.6 +/- 22.7 mL/min/kg) fetuses. In the SGA fetus, there was a significant inverse relationship (P < 0.001) between fetal weight-related umbilical venous volume flow and fetal brain/liver volume ratio. In a subset of 16 SGA and 16 AGA fetuses matched for gestational age, a significant difference existed for umbilical artery pulsatility index (2.30 +/- 1.52 vs. 0.99 +/- 0.19), fetal middle cerebral artery pulsatility index (1.3 +/- 0.4 vs. 2.1 +/- 0.3) and late diastolic flow velocity in the fetal ductus venosus (6.9 +/- 14.2 cm/s vs. 23.9 +/- 8.8 cm/s), but not for peak systolic, early diastolic and time-averaged velocity in the ductus venosus. CONCLUSION: Sonographic estimates of fetal brain volume can be obtained. The fetal brain/liver volume ratio is a predictor of fetal outcome in the growth-restricted fetus. An inverse relationship exists in SGA fetuses between brain/liver volume ratio and fetal weight-related umbilical venous blood flow.

Blood Flow Velocity↗
PubMed2002

Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.

The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484-489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation.

Abnormalities, Multiple↗
PubMed2002

[Centenary of the Health Council of the Netherlands. III. Hospital care and research].

In 1983 a ministerial decree based on Section 18 of the Hospital Provisions Act came into force, under which a number of top clinical centres could only give certain specialised care if they obtained a permit from the minister of Health, Welfare and Sport. Following the Health Council's report 'The Limits of Care' published in 1986, the government instructed the Health Council in 1989 to develop a policy for regularly reporting the status of certain section-18-activities and to put forward proposals for investigative medical research. This led to the Health Council's so-called annual reports, which have played a pivotal role in the balanced introduction and dissemination of special provisions. In 1995 the Health Council stopped issuing its annual report due to the ambiguity which arose concerning the implementation of a number of proposals it had made. In 1997 all top clinical activities were made subject to section 2 of the Specific Medical Procedures Act. This meant that there was no longer a statutory obligation to advise the government. However, under the Specific Medical Procedures Act, the Health Council has been able to continue its important advisory role. For example, the Health Council's advice was taken into consideration when the practice of in-vitro fertilisation was evaluated and during the drafting of the Embryo Act.

Decision Making↗
PubMed2002

Unilateral multicystic dysplastic kidney: a combined pre- and postnatal assessment.

OBJECTIVE: To review the prenatal assessment of associated renal pathology, non-renal pathology and renal biometry, fetal outcome and postnatal urological management in the presence of unilateral fetal multicystic dysplastic kidney. METHODS: A total of 38 singleton pregnancies with fetal unilateral multicystic dysplastic kidney was studied over a 13-year period. Prenatally, fetal biometry, including head and abdominal circumferences and largest longitudinal diameter of the affected and contralateral kidneys, was performed. The amount of amniotic fluid was assessed. Fetal karyotyping was offered in cases of contralateral renal or non-renal pathology. A MAG 3 scan and voiding cystogram was performed approximately 4 weeks after delivery to establish renal function and to exclude urinary reflux. RESULTS: Unilateral fetal multicystic dysplastic kidney was left-sided in 53% and right-sided in 47% of cases. The fetus was male in 63% and female in 37% of cases. Associated renal and non-renal pathology existed in 21% and 5% of cases, respectively. The fetal karyotype in these subsets was always normal. The longitudinal diameter of the multicystic dysplastic kidney was above the 95th centile in 87%. There was polyhydramnios in three cases and oligohydramnios in two cases. The prematurity rate was 16%. Postnatal examination revealed a non-functional multicystic kidney in 87% (33/38) of cases. Following surgical removal of the affected kidney, these infants progressed normally. Of the remaining five infants, four died because of associated anomalies and one infant developed normally without surgery. CONCLUSIONS: Fetal outcome is determined by associated renal and/or non-renal structural pathology and not by the size/location of the unilateral multicystic dysplastic kidney or amniotic fluid volume.

Amniotic Fluid↗
PubMed2002

Early fetal anomaly scanning in a population at increased risk of abnormalities.

OBJECTIVES: To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies. DESIGN: A prospective study in a tertiary center of 101 consecutive fetuses at risk of congenital anomalies at 11-14 weeks of gestation. RESULTS: The principal (93/101 = 92%) reason for referral was having a previously affected infant. Nine (9/101 = 9%) fetuses were shown to have structural anomalies at the 11-14-week scan. In five of nine structurally affected fetuses, the nature of the anomalies was similar to that established in a previously affected pregnancy, four of which had a recurrence of an autosomal recessive syndrome. In two fetuses with a normal 11-14-week scan, anomalies were detected at the 18-21-week (arthrogryposis) or 30-week (cardiomyopathy) scans. CONCLUSIONS: The majority of fetal anomalies can be diagnosed in the late first/early second trimesters of pregnancy. This will be of particular advantage to those women who are at high risk of having affected offspring. However, as fetal anomalies may present at varying gestational ages, the standard 18-21-week scan cannot be abandoned. The effectiveness of the early pregnancy scan depends on the natural history of anomalies (gestational age at onset) and the variable phenotypic expression of anomalies/syndromes.

Congenital Abnormalities↗
PubMed2002

Umbilical venous volume flow in the normally developing and growth-restricted human fetus.

OBJECTIVE: To determine the reproducibility of measurement of umbilical venous volume flow components and to calculate umbilical venous volume flow in normal and growth-restricted (small-for-gestational age) fetuses in a cross-sectional study. METHOD: Using Labview and Imaq-vision software, the cross-sectional inner area of the umbilical vein was traced. Vessel area (mm2) and Doppler-derived time-averaged flow velocity (mm/s) were multiplied to calculate volume flow (mL/min) including flow per kg fetal weight. The coefficient of variation for vessel area and flow velocity scans and tracings were determined (n = 13; 26-35 weeks). Normal charts for components and volume flow were constructed (n = 100; 20-36 weeks) and related to data from growth restricted fetuses (birth weight < 5th centile) (n = 33; 22-36 weeks). In growth-restricted fetuses the umbilical artery pulsatility index was also obtained. RESULTS: Reproducibility: The coefficient of variation was 5.4% (vessel area) and 7.3% (time-averaged velocity) for scans and 6.6% and 10.5% for measurements, resulting in a coefficient of variation of 8.1% (scans) and 11.9% (measurements) for volume flow. A gestational age-related increase exists for vessel area, time-averaged flow velocity and umbilical venous volume flow from 33.2 (SD, 15.2) mL/min at 20 weeks to 221.0 (SD, 32.8) mL/min at 36 weeks of gestation, but there is a reduction from 117.5 (SD, 33.6) mL/min to 78.3 (SD, 12.4) mL/min for volume flow per kg fetal weight. In small-for-gestational age fetuses, the values were below the normal range in 31 of 33 cases for volume flow and in 21 of 33 cases for volume flow per kg fetal weight. Umbilical artery pulsatility index was significantly different between the subsets with normal and those with reduced volume flow per kg fetal weight. CONCLUSIONS: Measurements of umbilical venous vessel area and time-averaged velocity resulted in acceptable reproducibility of volume flow calculations, which show a seven-fold increase at 20-36 weeks of gestation. In growth-restricted fetuses, volume flow is significantly reduced. When calculated per kg/fetus, the values were reduced in 21 (63.6%) out of 33 cases.

Adolescent↗
PubMed2002

Cardiac ventricular performance in the appropriate- for-gestational age and small-for-gestational age fetus: relation to regional cardiac non-uniformity and peripheral resistance.

OBJECTIVE: To investigate the relationship between parameters of diastolic function, loading conditions and remodeling of the left ventricle in the appropriate-for-gestational age and small-for-gestational age fetus. METHODS: Two-dimensional echocardiographic left ventricular images were digitized in 24 appropriate-for-gestational age and 14 small-for-gestational age fetuses. The maximal short axis and long axis were measured. The left ventricular contour was divided into 12 segments. The changes in whole left ventricular cavity area were calculated for ventricular global area change assessment. The coefficient of variation for segmental fractional area change was calculated for the evaluation of left ventricular regional wall motion non-uniformity. RESULTS: Mean left ventricular long axis/short axis ratio in the small-for-gestational age fetus (1.11 +/- 0.08) was smaller (P < 0.01) than in the appropriate-for-gestational age fetus (1.75 +/- 0.26). Mean fractional area change in the small-for-gestational age fetus was larger (P < 0.01) than in the appropriate-for-gestational age fetus (37.8 +/- 17.6% vs. 21.1 +/- 9.9%). Mean left ventricular global area change in the small-for-gestational age fetus was smaller (P < 0.05) than in the appropriate-for-gestational age fetus (53.2 +/- 7.4% vs. 61.5 +/- 10.3%). Mean ventricular isovolumic relaxation time in the appropriate-for-gestational age fetus was shorter (P = 0.03) than in the small-for-gestational age fetus (37 +/- 6 ms vs. 57 +/- 9 ms). Mean transmitral E-wave/A-wave ratio in the small-for-gestational age fetus was smaller (P < 0.01) than in the appropriate-for-gestational age fetus (0.69 +/- 0.08 vs. 0.80 +/- 0.08). A negative correlation (P < 0.05) was demonstrated between: (i) fractional area change and global area change in both small-for-gestational age (r = -0.62) and appropriate-for-gestational age fetuses (r = -0.58); (ii) umbilical artery systolic/diastolic ratio and transmitral E-wave/A-wave ratio in both appropriate-for-gestational age (r =-0.58) and small-for-gestational age (r = -0.60) fetuses. A positive correlation existed between fractional area change and isovolumic relaxation time in the small-for-gestational age fetus (r = +0.72; P < 0.01). CONCLUSIONS: The changes in ventricular shape, wall motion, spatial non-uniformity and diastolic function in the small-for-gestational age fetus could be considered as adaptive changes, known as ventricular remodeling. It is proposed that the leading cause of ventricular remodeling in the small-for-gestational age fetus is chronic pressure overload due to increased placental vascular resistance.

Female↗
PubMed2001

Significantly higher number of fetal cells in the maternal circulation of women with pre-eclampsia.

Although the pathophysiology of pre-eclampsia is unknown, several studies have indicated that abnormal placentation early in pregnancy might play a key role. It has recently been suggested that this abnormal placentation may result in transfusion of fetal cells (feto-maternal transfusion) in women with pre-eclampsia. In the present study, fetal nucleated red blood cells were isolated from 20 women with pre-eclampsia and 20 controls using a very efficient magnetic activated cell sorting (MACS) protocol. The number of male cells was determined using two-color fluorescence in situ hybridization (FISH) for X and Y chromosomes. Significantly more XY cells could be detected in women with pre-eclampsia (0.61+/-1.2 XY cells/ml blood) compared to women with uncomplicated pregnancies (0.02+/-0.04 XY cells/ml blood) (Mann-Whitney U-test, p<0.001). These results suggest that fetal cell trafficking is enhanced in women with pre-eclampsia, and this finding may contribute to the understanding of the pathophysiology of the disease.

Adult↗
PubMed2001

Dorsal aortic flow velocity in chick embryos of stage 16 to 28.

The objective of this study was to evaluate two Doppler frequency-detection methods to measure blood flow velocity in the developing chick embryo. We compared the commonly used directional zero-crossing counter and a customized digital bidirectional spectrum analyzer. At development stages 16 up to 28 (2.5 to 6 days incubation), a reversed flow component in the dorsal aorta was demonstrated using the bidirectional spectrum analyzer. Dorsal aortic velocities obtained with the directional zero-crossing counter were significantly lower than with the bidirectional spectrum analyzer in stages 16, 20 and 28. In addition to the differences in the absolute velocity values, there was also a remarkable discrepancy in the velocity waveform shape using the two Doppler frequency processors. The calculated heart rate using the two Doppler frequency processors was identical. It is concluded that a Doppler velocity detector based on spectral analysis is superior to the hitherto used zero-crossing counter in the chick embryo. With the customized digital bidirectional spectrum analyzer, we can accurately measure the hemodynamics of the developing chick embryo.

Animals↗
PubMed2001

Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.

Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal condition. We describe the prenatal sonographic diagnosis of Jeune syndrome at 14 weeks of gestation in a fetus at risk for this condition, and the development of the syndrome throughout the pregnancy.

Anthropometry↗
PubMed2001

Fetal transcerebellar diameter and chromosomal abnormalities.

OBJECTIVE: To evaluate the association between chromosomal abnormalities and fetal cerebellar size. DESIGN: A retrospective cross-sectional study. METHODS: Ultrasound measurements of transcerebellar diameter, head and upper-abdominal circumference from 88 fetuses with chromosomal abnormalities were analyzed. Abnormalities included trisomy 21 ( n = 23), trisomy 18 ( n = 17), 'other numerical chromosomal abnormalities' ( n = 9), sex chromosomal abnormalities ( n = 9), mosaicism ( n = 12), balanced translocations ( n = 9) and unbalanced translocations ( n = 9). Multiple regression analysis was performed to compare transcerebellar diameters between the reference group and each of the subsets of chromosomal abnormalities and between trisomies 18 and 21. Also, in the latter two subsets, comparison of the transcerebellar diameter before and after 25 weeks of gestation was carried out. RESULTS: Fetal transcerebellar diameter was reduced in relation to gestational age but was normal when control was made for fetal size in all chromosomal subsets, except for balanced translocations. The transcerebellar diameter in trisomy 18 was significantly smaller than that in trisomy 21. No difference in cerebellar size was found when comparing the gestational age period before and after 25 weeks in each of these two subsets. CONCLUSIONS: A reduction in fetal transcerebellar diameter was demonstrated in all chromosomal abnormalities with imbalance of genetic material. Cerebellar hypoplasia was more severe in trisomy 18 than in trisomy 21. The degree of reduction in fetal transcerebellar diameter in these subsets seems to be independent of the time period during which the transcerebellar diameter measurement was performed.

Adult↗
PubMed2001

Power spectrum analysis of heart rate and blood flow velocity variability measured in the umbilical and uterine arteries in early pregnancy: a comparative study.

OBJECTIVE: To compare power spectral derived variability parameters from the fetal side of the placental circulation with those from the maternal side of the placental circulation, during early pregnancy. METHODS: Doppler velocity waveforms were obtained from both the umbilical and the uterine arteries in a study group of 40 pregnant women between 10 and 14 (n = 25) and 15 and 20 (n = 15) weeks of gestation. The coefficient of variation of both the beat-to-beat heart rate variability and the blood flow velocity variability was determined. The ratio of the integrated low-frequency components (< 0.2 Hz) and the integrated high-frequency components (> 0.2 Hz) from normalized power spectrum analysis (LH-ratio) was established, to reflect sympathovagal balance. RESULTS: The coefficient of variation and LH-ratio of fetal heart rate variability constitute only a fraction of the same maternal heart rate variability parameters. Nevertheless a highly significant increase (P < 0.001) in LH-ratio was demonstrated with advancing gestational age. The coefficient of variation and LH-ratio of blood flow velocity variability were significantly lower in the fetal umbilical artery only in the 10-14-weeks' gestation group. Due to a decrease of the maternal uterine blood flow velocity variability parameters with advancing gestational age, statistically equal fetal and maternal values for coefficient of variation and LH-ratio were found in the 15-20 weeks' gestation group. CONCLUSIONS: The increase in LH-ratio of fetal heart rate variability indicates functional development of the fetal autonomic nervous system at 15-20 weeks' gestation. The umbilical blood flow velocity variability may be secondary to maternal uterine arterial flow variability rather than due to primary changes in fetal cardiovascular function.

Blood Flow Velocity↗
PubMed2001

Prenatal diagnosis of type A1 brachydactyly.

Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies. In isolated type A1 brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fetus with type A1 brachydactyly inherited from the mother and grandmother.

Adult↗