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Biomedical subjects

A Mantingh

Publications and source records attributed to A Mantingh.

At least 37 records · Page 2Linked to original sources

First-trimester maternal serum immunoreactive inhibin in chromosomally normal and abnormal pregnancies. Dutch Working Party on Prenatal Diagnosis.

OBJECTIVE: To investigate the maternal serum immunoreactive inhibin level in chromosomally normal and abnormal pregnancies in the first trimester. METHODS: This was a retrospective study under the auspices of the Dutch Working Party on Prenatal Diagnosis. Maternal serum samples were taken before prenatal diagnosis. Forty-eight maternal serum samples from chromosomally abnormal pregnancies, including 23 with Down syndrome, were available for analysis; 284 samples from chromosomally normal pregnancies were used to establish reference ranges. RESULTS: The median value of maternal serum immunoreactive inhibin in the 23 Down syndrome pregnancies was 1.3 multiples of the normal median (95% confidence interval 0.8-2.1). No significant difference was found between the distributions of the inhibin concentrations in the normal and the Down syndrome pregnancies or in the normal and the other chromosomally abnormal pregnancies. CONCLUSION: In contrast to the second trimester of pregnancy, the level of maternal serum immunoreactive inhibin in the first trimester is not related to fetal chromosomal abnormalities and therefore is not useful as a biochemical screening index.

Adult

[Serum screening of pregnant women for fetal neural tube defects and Down syndrome; initial experiences in The Netherlands].

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.

Adolescent

[How women cope with the results of maternal serum screening for fetal neural tube defects and Down syndrome].

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.

Adaptation, Psychological

Women's opinions on the offer and use of maternal serum screening.

We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether. A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well-considered individual choice can be achieved.

Decision Making

Maternal serum CA 125 levels in pregnancies with chromosomally-normal and -abnormal fetuses. Dutch Working Party on Prenatal Diagnosis.

We measured the maternal serum cancer antigen 125 (MS-CA 125) levels in 98 nonpregnant women, 765 first- and second-trimester pregnancies with chromosomally-normal fetuses, and 54 chromosomally-abnormal pregnancies. To determine the MS-CA 125 concentration, we used a new automated microparticle enzyme immunoassay with low inter-assay variability. The median MS-CA 125 level decreased from the first to the second trimester of pregnancy and was higher than that in non-pregnant women. We found no difference between normal and Down's syndrome (n = 29) pregnancies (t-test: t = 0.57, p > 0.5). The MS-CA 125 levels in pregnancies with other chromosomal abnormalities showed no difference either, compared with the normals. We conclude that MS-CA 125 is not a useful marker for fetal Down's syndrome, nor for other chromosomal disorders in pregnancy.

Abortion, Spontaneous

Increased maternal serum alpha-fetoprotein and human chorionic gonadotropin in compromised pregnancies other than for neural tube defects or Down syndrome.

Intrauterine fetal death occurred in four women who were 'screen-positive' in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore, we evaluated all 'screen-positive' women in whom both of these markers were greater than or equal to 2.0 multiples of the median. The cases fulfilling these criteria totalled 11, and only one of them had no complications. High concentrations of both MSAFP and MShCG in a number of these cases might have been caused by an increased placental volume, which, in turn, might have been induced by decreased perfusion of the placenta. We conclude that screening programmes wrongly determine a high risk of fetal NTD or DS if the concentrations of both these parameters are very high. Invasive diagnostic procedures should be avoided in these cases, particularly in view of the increased risk of an adverse pregnancy outcome.

Adult

Second-trimester maternal serum immunoreactive inhibin as a marker for fetal Down's syndrome.

We measured immunoreactive inhibin in the maternal serum of 80 pregnancies with a chromosomally normal fetus and ten Down's syndrome pregnancies in the second trimester. The inhibin level in all Down's syndrome pregnancies was above the normal median; the multiple of the normal median (MoM) was 1.9. We found a statistically significant difference between the levels of inhibin in unaffected and affected pregnancies (Kolmogorov-Smirnov test: p < 0.002). Using an arbitrarily chosen cut-off of 2.4 MoM, 40 per cent of Down's syndrome and 5 per cent of the normal pregnancies were found. We conclude that immunoreactive inhibin may be useful as a marker for fetal Down's syndrome.

Biomarkers

Fetal heart rate in early pregnancy and chromosomal disorders.

OBJECTIVE: To investigate normal fetal heart rate in early pregnancy and assess the hypothesis that abnormal fetal heart rate is associated with fetal chromosomal abnormalities. DESIGN: Prospective descriptive cross-sectional study. SETTING: Antenatal clinic associated to the University Clinic of Obstetrics, University Hospital Groningen, The Netherlands. SUBJECTS: 424 pregnant women who attended for prenatal counselling. INTERVENTIONS: Measurements of fetal heart rate from 6-16 weeks gestation, cross-sectional study. MAIN OUTCOME MEASURES: Fetal heart rate expressed as beats/min. RESULTS: Karyotyping showed a normal chromosomal pattern in 414 fetuses. The median fetal heart rate increased from 138 beats/min at 6 weeks to 177 beats/min at 9 weeks, thereafter, fetal heart rate gradually decreased to 150 beats/min at 16 weeks. Karyotyping showed 10 abnormalities: five trisomies 21, three trisomies 18, and two mosaic patterns in chorionic villi. Fetal heart rate of the trisomic fetuses was distributed around the median with that of all Down's syndrome fetuses within the normal range. In one fetus with trisomy 18, the heart rate exceeded the 90th centile, in another it fell under the 10th centile. The two fetuses with a mosaic pattern in chorionic villi had heart rates outside the normal range. CONCLUSION: Fetal heart rate in chromosomally abnormal fetuses in early pregnancy do not appear to be consistently different from that in normal fetuses. The use of a single measurement of fetal heart rate is not valuable for screening purposes. Chromosomal mosaicism in chorionic villi may be associated with abnormal fetal heart rate.

Chromosome Aberrations

[Opinion of primiparae on the possibility of sex selection].

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.

Abortion, Induced

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS.

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.

Abortion, Spontaneous

Alpha-fetoprotein in fetal serum, amniotic fluid, and maternal serum.

In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second-trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.

Amniotic Fluid

Women's opinions on the offer and use of prenatal diagnosis.

We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedures, especially if treatable abnormalities can be detected. Younger women and women with a high level of education were less inclined to make use of prenatal diagnosis. If tests were made more widely available, this might lead to a significant increase in the use of prenatal diagnosis.

Adult

The predictive value of cytogenetic diagnosis after CVS: 1500 cases.

The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 samples, 58 (3.9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue- and chromosome-specific selection mechanism is postulated.

Chorionic Villi Sampling

Pelvimetry by magnetic resonance imaging in breech presentation.

Evaluation of the pelvis by pelvimetry plays an important role in selecting patients with term breech presentation for possible vaginal delivery. X-ray pelvimetry involves the disadvantage of fetal exposure to ionizing radiation. Computed tomography reduces the amount of radiation markedly, but there is still a risk. Ten patients with breech presentation at term underwent antepartum pelvimetry with magnetic resonance imaging, following by postpartum magnetic resonance pelvimetry and x-ray pelvimetry. Measurements with magnetic resonance imaging are as reliable as those obtained with x-ray pelvimetry and the contrast of the magnetic resonance images is even better. The advantages of magnetic resonance pelvimetry are clear: no ionizing radiation and reliable pelvimetry results in cases of term breech presentation in which a normal pelvis is a prerequisite for safe vaginal delivery.

Breech Presentation