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Biomedical subjects

T E Cohen-Overbeek

Publications and source records attributed to T E Cohen-Overbeek.

At least 19 recordsLinked to original sources
PubMed2006

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.

Abnormalities, Multiple↗
PubMed2005

Mild renal pyelectasis in the second trimester: determination of cut-off levels for postnatal referral.

OBJECTIVE: To establish guidelines for postnatal referral of fetuses presenting with mild pyelectasis in the second trimester of pregnancy. METHODS: In a retrospective study, 87 fetuses with a renal pelvis anteroposterior (RPAP) diameter of > or = 4 mm and < or = 10 mm before 28 weeks of gestation were included. All patients had a third-trimester scan and fetuses with an RPAP diameter of > or = 10 mm at that stage were referred for postnatal assessment. The family practitioner of all infants with an RPAP of < 10 mm in the third trimester was contacted for follow-up information. The RPAP diameter most predictive of renal pathology was determined with receiver-operating characteristics (ROC) curve analysis for both the first and second scans. RESULTS: In 36 of 87 infants, 49 abnormal kidneys were diagnosed. Seven infants required surgery on eight renal tracts. The ROC curves of the first scan, second scan and differences between scans resulted in an area under the curve of 0.60, 0.87 and 0.85, respectively. The sensitivities and specificities for a cut-off level of 8, 9 and 10 mm at the second scan were 80%, 71% and 61% and 79%, 90% and 93%, respectively. At a cut-off level of 10 mm, only cases of insignificant minimal dilatation and a case of vesicoureteric reflux (VUR) requiring surgery were not detected. CONCLUSION: After establishing a diagnosis of mild pyelectasis before 28 weeks, a second scan is mandatory to determine which infants need postnatal evaluation. A cut-off level of 8 mm has a low specificity but includes most cases of pathology. A cut-off level of 10 mm detects most significant pathology; however, VUR may not be detected.

Adult↗
PubMed2003

[Twenty years of experience in advanced ultrasound scanning for fetal anomalies in Rotterdam].

At the Rotterdam Fetal Medicine Unit over a period of 20 years, scanning for foetal anomalies has been performed in more than 24,000 pregnancies at risk of a foetal congenital anomaly. In pregnancies where there was prior knowledge of increased risk of a foetal anomaly (group I), the incidence of foetal pathology was 2-5%. In pregnancies in which a foetal anomaly was suspected on clinical or sonographic grounds (group II), the incidence of foetal pathology was 32-57%. For reasons of good-image quality, group I pregnancies were nearly always referred for a foetal-anomaly scan at 18-21 weeks of gestation. Group II pregnancies were often referred after 24 weeks of gestation, which is the upper legal limit for termination of pregnancy in the Netherlands. The detection rate was 94.7% (2000 and 2001). An abnormal chromosome pattern was established in 18% of all affected pregnancies, the great majority of these patterns (83%) being numerical. Approximately 18% of affected pregnancies were discussed in a multidisciplinary setting to ensure correct diagnosis, prognosis and management. Depending on the nature and severity of the foetal anomaly, standard obstetric management was advised in two thirds of cases. In the remaining one third termination of pregnancy was carried out at the request of the parents or a policy of obstetric non-intervention was adopted. In a subgroup comprising 460 pregnant women with both indications for referral, who were investigated at 12-14 weeks gestation, the detection rate for a number of congenital abnormalities was 89.5%.

Congenital Abnormalities↗
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↗
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

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↗
PubMed1999

[Parvovirus B19 infection in pregnancy: a cause of non-immune hydrops fetalis].

Four pregnancies, in two women aged 39 and two women aged 34 years respectively, were complicated by foetal parvovirus B19 infection. First-trimester intrauterine death resulting from multiple congenital anomalies was diagnosed in one patient with proven foetal parvovirus B19 infection. In three patients foetal hydrops was found in the second trimester with variable clinical course. In one of them, foetal hydrops resulted in second-trimester foetal death; in another, foetal hydrops resolved following intrauterine blood transfusion and in a third foetal hydrops resolved spontaneously. Foetal parvovirus B19 infection was diagnosed by polymerase chain reaction (PCR) using foetal cells obtained by amnioscentesis. It is concluded that maternal parvovirus B19 infection is mostly asymptomatic. However, the clinical impact of maternal infection on the foetus is diverse, i.e. infection may result in foetal death or--transient--foetal morbidity, in particular foetal anaemia. In mothers with proven foetal parvovirus B19 infection close monitoring of the foetus by ultrasound is warranted. Occasionally intrauterine transfusion is required. From the literature to date, the estimated incidence of maternal parvovirus B19 infection in pregnancy is 3-7%. The vertical transmission rate approximates 30%. When pregnancy is complicated by foetal hydrops foetal parvovirus B19 infection should be kept in mind.

Adult↗
PubMed1998

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks.

Among 3499 cytogenetically investigated semi-direct chorionic villus samples, 219 (6.3 per cent) abnormal karyotypes were encountered. The karyotypes were considered certainly abnormal (generalized abnormal with high probability) in 109 cases (3.1 per cent), and in 110 cases (3.1 per cent) uncertainly abnormal (potentially confined to the placenta), requiring further investigation. Of these 110 uncertain abnormalities, the cytogenetic result turned out to be finally abnormal representing generalized abnormality in 36 cases (32.7 per cent), finally normal representing confined placental mosaicism (CPM) in 69 cases (62.7 per cent), and remained undetermined in 5 instances (4.5 per cent). The rate of the numbers of certainly abnormal and all (certainly + uncertainly) abnormal results, the certainty rate, and that of generalized abnormalities and all abnormalities (generalized abnormalities + CPM cases), the predictive value, are strongly correlated with the cytogenetic risk. Therefore, we advise chorionic villus sampling for cytogenetic investigation only in women with a cytogenetic risk equal to or exceeding that of a 40-year-old pregnant woman. Because of the high rate of prenatal follow-up investigations after the finding of uncertain results in semi-direct villi, semi-direct and cultured villi should be karyotyped simultaneously.

Adult↗
PubMed1998

Hypoxic-ischemic fetal insult resulting from maternal aortic root replacement, with normal fetal heart rate at term.

A patient with Marfan's syndrome was seen at 29 weeks' gestation with acute aortic dissection. She underwent aortic root replacement under deep hypothermia and circulatory arrest. The fetal heart rate was ominous during surgery but recovered later. Serial ultrasonographic examinations showed progressive fetal brain atrophy. The patient was delivered at 38 weeks' gestation of a girl weighing 2305 g, in whom severe spastic tetraplegia, absent psychomotor development, and therapy-resistant epilepsy developed. This is the first case to document progressive fetal brain atrophy after cardiac surgery in pregnancy.

Adult↗
PubMed1998

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.

In most reported cases of uniparental disomy (UPD) associated with confined placental mosaicism (CPM), a high level of mosaicism or a full trisomy was found in chorionic villi. At the time that we started our investigations, it was not quite clear whether fetal UPD also existed in the more frequently occurring low levels of mosaicism. During a 4-year period, a follow-up amniocentesis was performed in all cases of mosaic or non-mosaic trisomy detected in chorionic villus (CV) semi-direct preparations and suspected to be confined to the placenta. We performed fluorescent in situ hybridization (FISH) on uncultured amniotic fluid cells to differentiate between generalized mosaicism and CPM. We found 29 cases of CPM and we determined the incidence of UPD in 23 of these cases. Normal biparental chromosome contributions were found in 22 cases. In one case, we detected a maternal heterodisomy for chromosome 16. UPD appeared to be a rare phenomenon in the cases of CPM (type I and/or type III) that we encountered in 3958 consecutively investigated CV samples, and is not the cause of the pregnancy complications found in seven out of 23 cases with CPM.

Amniocentesis↗
PubMed1996

A case of early intrauterine parvovirus B19 infection.

We present a case of parvovirus B19 infection in the first trimester, confirmed by polymerase chain reaction (PCR) in amniotic fluid and cord blood, that caused myocarditis, severe intrauterine growth retardation, and probably glomerulonephritis. Eventually a small-for-dates neonate was born, without any signs of the infection.

Adult↗
PubMed1996

Serum lipids in early pregnancy and risk of pre-eclampsia.

OBJECTIVE: To determine whether first and late second trimester serum total and high density lipoprotein cholesterol are associated with blood pressure, uterine artery pulsatility index and pregnancy outcome. DESIGN: A prospective cohort study. Data were analysed using multiple linear and logistic regression analysis. PARTICIPANTS: Three hundred and ninety-three pregnant women requesting chorionic villus sampling because of advanced maternal age (36 years and older). MAIN OUTCOME MEASURES: Serum total cholesterol and high density lipoprotein cholesterol were measured by an automated enzymatic method. Uterine artery flow velocity waveforms were recorded using continuous Doppler ultrasound. Pregnancy outcome was assessed by questionnaire. RESULTS: First trimester serum total cholesterol was significantly associated with the risk of pre-eclampsia, with the adjusted relative risk exceeding 5 for women with serum total cholesterol levels above 6.0 mmol/1 when compared with women with a cholesterol level below 5.0 mmol/1. First trimester serum total cholesterol also showed a significant relationship with diastolic blood pressure (coefficient of linear regression = 0.02 (mmol/1)/mm Hg, 95% CI = 0.01 to 0.03), and the change in both diastolic and systolic blood pressure from the first to the late second trimester was associated with linear changes in serum total cholesterol and high density lipoprotein cholesterol. CONCLUSIONS: These data suggest a relation between serum lipids in early pregnancy and the development of pre-eclampsia.

Adult↗
PubMed1995

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses.

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turner syndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18 = 77.5 per cent).

Adult↗
PubMed1995

The ultrasonic detection of an isolated craniosynostosis.

The prenatal detection of scaphocephaly, an isolated form of craniosynostosis, is presented. The diagnosis was made at 34 weeks of gestation in a woman with polyhydramnios. The ultrasound appearance and postnatal follow-up are presented.

Adult↗
PubMed1995

Intracranial teratoma with multiple fetuses: pre- and post-natal appearance.

An intracranial teratoma in which six distinct dysmorphic fetuses were included was studied at autopsy. Karyotopic studies showed a normal chromosomal number in the child and the same karyotype in the three tumoral parts were examined. This is the second tumor of this type reported.

Abnormalities, Multiple↗
PubMed1995

Early uterine artery Doppler velocimetry and the outcome of pregnancy in women aged 35 years and older.

The objective of this paper was to determine whether first- and second-trimester uterine artery Doppler velocimetry are associated with pregnancy complications in women of advanced maternal age. A prospective cohort study of 352 women aged 35 years and older was studied. The pulsatility index (PI) values at 12-13 weeks of gestation were significantly associated with development of hypertensive disorders, a small-for-gestational-age infant and gestational diabetes, with a relative risk exceeding 4, 2 and 8, respectively for women with PI values in the highest quartile (> 1.67) of the PI distribution when compared with the lowest quartile of the PI distribution (< 1.24). At 23-27 weeks' gestation, uterine artery PI values were found to be associated with preterm delivery with a gestational age-adjusted risk of 10.6 for women with PI values in the highest quartile of PI (> 1.24) when compared with PI values in the lowest quartile of the PI distribution (< 1.09). No associations existed between uterine artery PI, antepartum hemorrhage and Cesarean section rate. The risk estimates for any of the outcome parameters were not affected by maternal age. Results indicate that hemodynamic changes detectable in the uterine artery as early as the first trimester of pregnancy are associated with an increased risk of hypertensive disorders, a small-for-gestational-age infant and gestational diabetes. A similar association exists in the late second trimester of pregnancy, with an increased risk of preterm delivery.

Adult↗