Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands.

OBJECTIVE: To examine the impact of introduction of the mid-trimester scan on pregnancy outcome in cases of open spina bifida in two regions of The Netherlands. METHODS: This was a retrospective cohort study of 190 cases of open spina bifida diagnosed pre- or postnatally, with an estimated date of delivery between 2003 and 2011. RESULTS: With implementation of the mid-trimester scan the percentage of cases of open spina bifida detected before the 24(th) week of pregnancy increased from 43% to 88%. The rise in prenatal detection rate was associated with a significant increase in the number of terminated pregnancies and a decrease in the rate of perinatal loss; the percentage of children born alive did not change significantly. In the subgroup that underwent a scan between 18 and 24 weeks of pregnancy, cranial signs were present in 94.4% of cases. CONCLUSION: Introduction of the mid-trimester scan has led to an increase in early identification of pregnancies complicated by open spina bifida. Pregnancies previously destined to end in perinatal loss are now terminated whilst pregnancies with a relatively good prognosis are frequently continued; the number of children with open spina bifida who are born alive has not changed significantly. Our study confirms that prenatal diagnosis is usually triggered by visualization of a lemon-shaped skull or a banana-shaped cerebellum.

The association between hypertensive disorders of pregnancy and abnormal second-trimester maternal serum levels of hCG and alpha-fetoprotein.

OBJECTIVE: To examine the association between hypertensive disorders of pregnancy and second-trimester maternal serum alpha-fetoprotein (MSAFP) and hCG levels. METHODS: The proportions of abnormal second-trimester MSAFP and hCG levels in the serum samples from 65 women with true pregnancy-induced hypertension or preeclampsia (cases) were compared to the proportions of abnormal levels in all 1943 women without this disorder in the same cohort in a hospital setting. Maternal serum alpha-fetoprotein and hCG levels of the 65 cases also were compared to those of 325 completely uncomplicated matched control pregnancies, selected from the same cohort. Fisher exact test and Student t test were used for statistical analysis and P < .05 was considered statistically significant. RESULTS: An MSAFP level at least 2.5 multiples of the median (MoM) was found in two of 65 cases (3.1%) and in 27 of 1943 women (1.4%) in the rest of the cohort, a nonsignificant difference (relative risk [RR] = 2.2; P = .24). The statistical power to identify a significant difference for this RR was .27. An hCG level of at least 2.5 MoM was found in six cases (9.2%) and in 89 (4.6%) of women in the rest of the cohort, also a nonsignificant difference (RR = 2.0; P = .12). The statistical power to identify a significant difference for this RR was .38. The mean (+/-standard deviation) logarithms of the MSAFP and hCG MoMs in the 65 cases (0.039 +/- 0.191 and 0.048 +/- 0.265, respectively) were not significantly different from those in the 325 matched controls (0.006 +/- 0.148 and -0.010 +/- 0.244, respectively; P = .12 and .08, respectively). CONCLUSION: Although a weak association cannot be excluded, this study found no clinically important increase in risk of developing subsequent hypertensive disorders of pregnancy among women with abnormal second-trimester levels of MSAFP or hCG.

Perinatal motor behaviour and neurological outcome in spina bifida aperta.

AIM OF THE STUDY: In the present longitudinal study we investigated the relationship between prenatal motor behaviour and the postnatal neurological sequelae of infants with spina bifida aperta. METHODS AND PATIENTS: Prenatal isolated leg movements and general movements of 13 fetuses/infants with spina bifida aperta were assessed by means of ultrasound recordings, and were compared with: 1. the spinal level of morphological defect (meningo-myelocele), 2. the postnatal motor behaviour, 3. the postnatal sensory function, and 4. the final motor outcome. RESULTS: In all 13 cases studied, the spinal defect was either at thoracic (n = 8) or at lumbal (n = 5) level. All fetuses displayed active leg movements corresponding to the functioning of low lumbal myelum segments (L4-5 in two cases or L5-S1 in 11 cases), despite vertebral defects at high localisation. These leg movements were of normal quality (normal in appearance) and endogenously generated, since no external stimulus was exerted to elicit them. This implies that in fetuses with spina bifida aperta active leg movements can be generated at spinal segments which are located at (n = 1), or under (n = 12) the meningo-myelelocele. Postnatally, for a short period of time (mostly during the first few hours), leg movements related to myelum function at (n = 1) or lower than (n = 7) the spinal defect were detected. However, only in two infants these early leg movements were of normal quality and corresponded with the final motor outcome. In contrast to these early neonatal leg movements, early sensory function was strongly related to the spinal defect (r = 0.76; P = 0.005) and to the final motor outcome (sensory function predicted outcome in all infants of whom follow-up was performed). CONCLUSION: These data on fetuses/infants with spina bifida aperta strongly indicate that a discrepancy exists between the occurrence of prenatal leg movements and the spinal localisation of the meningo-myelocele on the one hand, and between the occurrence of pre- and postnatal leg movements on the other hand (quantity and quality).

The double uterus associated with an obstructed hemivagina and ipsilateral renal agenesis.

Two patients are presented with a uterus didelphys with an obstructed hemivagina and an ipsilateral renal agenesis. Short remarks are made about the embryologic relationships between uterus and kidneys and the necessity therefore of examining the genital system when there is an anomaly in the renal system and vice versa. The therapy is excision and marsupialization of the vaginal septum.

[Ultrasonic prenatal diagnosis of congenital anomalies: the impact on medical management during pregnancy]. / Echoscopisch gediagnosticeerde congenitale afwijkingen: impact op de zwangerschapsbegeleiding.

Three women, aged 30, 18 and 37 years respectively, were diagnosed during the course of their pregnancies with congenital anomalies that carry a high risk of mortality and morbidity, namely a neural tube defect, gastroschisis and trisomy 22. All 3 women chose to continue their pregnancy and received various forms of counselling concerning the differences between the estimated prognoses. For the first patient, the emphasis was explaining the consequences of the disease for the unborn child and the parents and how the resulting handicaps could be minimised by medical treatment. For the second patient, the treatment plan was deliberately curative, and regrettably this failed. For the third patient, the attending physician guided the parents through their future loss and supported them during their period of mourning.

[Serum screening for fetal Down syndrome in pregnant women with an indication for prenatal diagnosis because of age: fewer amniocenteses]. / Serumscreening op foetaal Down-syndroom bij zwangeren met een leeftijdsindicatie voor prenatale diagnostiek: minder amniocentesen.

OBJECTIVE: To examine the influence of maternal serum screening for foetal Down's syndrome (DS) on the number of amniocenteses in women with an indication for prenatal diagnosis because of age > or = 36 years. DESIGN: Longitudinal descriptive study. SETTING: Department of Obstetrics and Gynaecology, University Hospital Groningen. METHOD: Between October 1, 1990 and March 31, 1994, sera from 693 women, 36 years or older with a singleton pregnancy, were tested (alpha-foetoprotein and human chorionic gonadotrophin) to calculate the likelihood of their having a foetus with DS. RESULTS: 195 pregnant women (28%) were screen-positive (risk of having a foetus with DS > or = 1:250); 105 of these (54%) chose to have an amniocentesis. Of the remaining 498 (screen-negative) women, 22 (4%) chose to have an amniocentesis. All 7 cases of DS were in the screen-positive group. CONCLUSION: Maternal serum screening in women aged > or = 36 years can markedly reduce the number of invasive prenatal diagnostic procedures, with a minimal reduction in the detection of DS foetuses. It is advisable to offer this form of screening to all women in this age group.

[Opinion of primiparae on the possibility of sex selection]. / Oordeel van primiparae over de mogelijkheid van sekseselectie.

Recent medical-technological developments such as chorionic villi sampling and in vitro fertilization make sex selection in principle possible. The literature and our own experiences suggest an increasing demand for it. We interviewed a selected group of 180 women regarding sex selection, of whom 127 responded. More than 80% of these rejected a selection based on sex. The legitimacy of withholding information about the sex of the foetus is questionable. The existence of a demand, however small, should prompt professionals to take a stand about its acceptability.

[Epidemiology of prenatal diagnosis and selective pregnancy termination because of fetal neural tube defects in The Netherlands in comparison to other European countries]. / Epidemiologie van prenatale diagnostiek en selective zwangerschapsafbreking vanwege foetale neuralebuisdefecten in Nederland in vergelijking met andere Europese landen.

OBJECTIVE: To describe the epidemiological impact of prenatal diagnosis and selective abortion on the frequency of neural tube defects (NTD) in the period 1980-1992 in the Northern Netherlands in comparison with data from other European regions. DESIGN: Descriptive. SETTING: 17 'European registration of congenital anomalies' (EUROCAT) registrations, localized in 10 European countries. METHOD: Data were collected actively and retrospectively from multiple sources fed by voluntary registration of congenital anomalies in live births, stillbirths and pregnancies terminated because of congenital anomalies. RESULTS: In Europe the total birth prevalence of NTD in the period 1980-1992 ranged from 5.3 per 10,000 in Switzerland to 29.0 per 10,000 in Glasgow, a difference of a factor 5.5. In live births the difference was ninefold: ranging from 2.0 per 10,000 in Paris to 18.8 per 10,000 in Dublin. The Netherlands had a conspicuously high prevalence among live births, higher than in other regions in continental Europe. For spina bifida the live birth prevalence both in other continental regions and in Glasgow was also lower than in the Netherlands. In Glasgow serum alpha-foetoprotein screening apparently led to frequent early prenatal diagnosis of NTD and to frequent termination of pregnancy. In Paris the use of ultrasound screening appears to lead to frequent later prenatal diagnosis, as well as frequent termination of pregnancy. CONCLUSION: In the Netherlands the impact of prenatal diagnosis and selective abortion is limited, so that primary prevention (periconceptional use of folic acid) is more important than in some other European countries.

[Serum screening of pregnant women for fetal neural tube defects and Down syndrome; initial experiences in The Netherlands]. / Serumscreening van zwangeren op foetale neurale-buisdefecten èn Down-syndroom; eerste ervaringen in Nederland.

OBJECTIVE: To examine if, and if so, in what way, the maternal serum screening for fetal neural tube defects (NTD) and Down's syndrome (DS) in the Dutch decentralized obstetrical organization would be feasible and effective. DESIGN: Prospective. SETTING: University Hospital Groningen. METHOD: Between October 1st 1990 and December 1st 1991 we determined the likelihood of a baby with a NTD and/or DS in 2580 pregnant women, at 15 to 20 weeks gestation, by serum screening. RESULTS: Five foetuses with DS were detected, as well as two with a NTD, one foetus with an omphalocele, and one with Turner's syndrome. One infant with a NTD and one with DS were not found prenatally. Of all 98 women of 36 years or older, 68 declined amniocentesis because their risk was lower than the age related risk. CONCLUSIONS: Maternal serum screening for NTD and DS is feasible and effective in principle. In a decentralized prenatal care system, special attention has to be paid to the time needed to report the results and to the completion of the follow-up. The detection rate of DS in pregnant women of 36 years or older remains almost the same, but a significant number of them decline prenatal diagnosis. An increased risk of foetal DS, determined by serum screening, should be added to the official list of indications for prenatal diagnosis in the Netherlands.

[How women cope with the results of maternal serum screening for fetal neural tube defects and Down syndrome]. / Hoe vrouwen omgaan met de uitslag van maternale-serumscreening op foetale neurale-buisdefecten en Down-syndroom.

At the University Hospital of Groningen maternal serum screening for fetal neural tube defects and Down's syndrome is available to pregnant women on their request. We have inquired into the reasons why women apply for serum screening and how this affects them. We did so by means of questionnaires sent to 200 women and by interviewing 20 women whose screening result indicated an increased chance of giving birth to a Down's syndrome child. The response percentage was 52.5. It appeared that opting for serum screening is seen as a self evident choice rather than a conscious one. In general, at the time of the decision, the women only saw the advantages of the test while possible consequences were often not taken into account. More than 70% of the women said they would apply for amniocentesis if they were told that they had an increased risk of having a baby with Down's syndrome. The confrontation with an increased risk of Down's syndrome then came unexpectedly and caused much distress. How to deal with the risk assessment results proved to be very difficult for these women. The difference in scale of the risk factor as established by the screening test compared with the original risk factor based on maternal age was interpreted by them as being of more significance than the statistical implication of the factor itself.