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PubMed2000

Prenatal genetic testing in Japan.

OBJECTIVE: To examine the use of prenatal diagnosis and maternal serum marker tests (MSMTs) from January 1 to December 31, 1997, in Japan. METHODS: Questionnaires were sent to medical facilities, which represent about 80% of the facilities providing prenatal diagnosis. RESULTS: Prenatal diagnosis was performed in 5,748 women, of whom 5,538 (5,516 amniocenteses and 22 chorionic villus sampling; 96.3%) were screened for chromosomal abnormalities. 89.1% (221/248) of those diagnosed to have fetal abnormalities terminated the pregnancy. Written informed consent signed by both the obstetrician and the pregnant woman undergoing prenatal diagnosis was the policy in 76.5% facilities. A total of 14,682 MSMTs were performed: 8,919 were in pregnant women under 34 years of age and 5,763 were in women aged 35 years or older. Follow-up data were obtained in 10,209; 6,918 women under 34 years were tested; of those 448 had a positive result; 349 underwent amniocentesis and trisomy 21 was diagnosed in 9. 3,291 women aged 35 years or older were tested; of those 634 had a positive result; 607 underwent amniocentesis and trisomy 21 was found in 16 cases. Written informed consent before MSMTs was obtained in 34.5% of the facilities. CONCLUSION: The data showed that only 4% of pregnant women above age 35 years underwent amniocentesis in Japan, and a small proportion of pregnant women were being offered MSMTs. Prenatal testing should be carried out only on a voluntary basis. For this purpose, women must be adequately informed.

Abortion, Eugenic↗
PubMed2003

Prenatally detected trisomy 4 and 6 mosaicism--cytogenetic results and clinical phenotype.

We report on a live-born male with 46,XY/47,XY+4/47,XY,+6 mosaicism. Trisomy 4 mosaicism was detected by karyotyping chorionic villus samples (CVS) and was confirmed by the analysis of 16 metaphases obtained from cultured amniotic fluid cells. Eight metaphases were normal (46,XY), two had trisomy 4 (47,XY,+4), and two had trisomy 6 (47,XY,+6). Two postnatal chromosomal analyses of blood lymphocytes at birth and at the age of one week were normal. Chromosomal analysis of cultured skin fibroblasts from the right inguinal region at the age of 12 months revealed trisomy 4 (47,XY,+4) in 49 metaphases, trisomy 6 (47,XY,+6) in 2 metaphases, and a normal karyotype (46,XY) in 49 cells of the 100 analyzed metaphases, respectively. The main clinical findings consist of prenatal growth retardation, hypoplasia of the right side of the face, a dysplastic and posteriorly rotated right ear, a high vaulted palate, retrognathia, aplasia of the right thumb, hypoplasia of the fingernails, a deep sacral dimple, and patchy skin hypopigmentation of the right leg. When last seen at the age of 14 months, his development was nearly normal. Five patients with trisomy 4 mosaicism have been reported previously, but none with an additional trisomy 6 mosaicism.

Abnormalities, Multiple↗
PubMed1998

Chromosomally abnormal early ongoing pregnancies: correlation of ultrasound and placental histological findings.

The pathophysiology of placental microscopic changes in chromosomally abnormal pregnancies remains poorly understood. We have reviewed the relationship between ultrasound findings and villous histological features in a group of 25 ongoing pregnancies presenting with fetal aneuploidy at 11 to 15 weeks of gestation. The chromosomal abnormalities were diagnosed by chorion villous sampling, and the data were compared with those of a group of 25 chromosomally normal pregnancies undergoing surgical termination and matched for gestational age. The aneuploid group included 10 pregnancies with trisomy 21, nine with trisomy 18, three with triploidy, two with monosomy X, and one with trisomy 13. The overall degree of agreement between the two investigators for the histological diagnosis was good (kappa, 0.64), and the sensitivity of histology ranged between 72.0% and 80.0%. Fetal and placental edema was observed on scan in 10 and 7 cases, respectively, of the aneuploid group and was systematically associated with trophoblastic hypoplasia, stromal edema, or cavitation, reduced vascularization, and ramification of the main villous trunks. Fetoplacental hydrops was not observed in the euploid group. These findings indicate that histological changes observed in the placenta of fetuses from ongoing pregnancies presenting with aneuploidy can be linked with early fetal hydrops. The villous features in these cases are probably secondary to a reduction in the villous circulation due to a cardiovascular defect and leading to generalized stromal edema. The reduced villous branching and trophoblastic hypoplasia could be secondary to the enlargement of all villous types or to a basic defect in placental development.

Aneuploidy↗
PubMed1995

Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.

We report a case of maternal uniparental disomy of chromosome 10 discovered after chorionic villus sampling (CVS). Direct preparations revealed mosaic trisomy 10, while cultured CVS cells, as well as amniotic fluid cells, showed only a normal 46,XY complement. DNA analysis using microsatellite markers showed both chromosomes 10 to have been inherited from the mother. The pregnancy was complicated by polyhydramnios. A phenotypically normal male infant of appropriate size was delivered by Caesarean section at 41 weeks' gestation. Since only the direct preparations showed trisomy 10, this case illustrates the importance of CVS direct preparations in the detection of pregnancies at risk of uniparental disomy (UPD). Although the increased frequency of confined placental mosaicism (CPM) diagnosed when direct preparations are performed has been viewed negatively, identification of both CPM and UPD may have biological and clinical significance for a pregnancy. Even though only a single case of maternal disomy 10 is reported here, the apparently normal phenotype provides evidence that there are no major imprinted loci on chromosome 10 that affect in utero growth and development. However, other potential effects such as mental retardation will require long-term follow-up of this as well as additional cases.

Adult↗
PubMed2001

[Maternal anxiety induced by prenatal diagnostic techniques: detection and management].

Recent improvement in the screening for chromosomal defects, in particular the widespread use of ultrasonography and maternal biochemistry, is leading to a high number of fetal invasive tests (amniocentesis or chorion villus sampling). An increased level of anxiety in the pregnant women, which may sometimes continue until the postnatal period, is believed to be due to these prenatal diagnosis procedures. Maternal anxiety originates in the doubts related to fetal integrity and pregnancy outcome after information of a positive biochemical screening or visualisation of an ultrasound marker of chromosomal abnormality. Each specialist involved in prenatal care should take special attention to this, because of at least two reasons. First, anxiety may reduce maternal well being during pregnancy. Second, because it could have deleterious effects on parent to infant relationships. Without any intention of lowering the positive aspects of prenatal diagnosis, it appears essential to consider the negative effects anxiety may have on both parents. From our own experience and the conclusion of previous reported studies, we suggest some measures to reduce the level of maternal anxiety related to prenatal diagnosis: (i) improvement in the quality and transparency of information offered to pregnant women; (ii) training and involvement in psychological and emotional care for each member in the medical team; (iii) special and systematic psychological care for the "high risk" pregnant women regarding anxious disorders.

Amniocentesis↗
PubMed1995

Fetal ductus venosus flow velocity waveforms and maternal serum AFP before and after first-trimester transabdominal chorionic villus sampling.

Doppler flow velocity waveform recording in the fetal ductus venosus and umbilical artery as well as maternal blood sampling for serum alpha-fetoprotein (MSAFP) was performed before and after transabdominal chorion villus sampling (TACVS) in 36 women of advanced maternal age (> or = 36 years). Gestational age ranged between 11 and 13 weeks. No chromosomal anomaly was detected. No statistically significant difference was observed in ductus venosus velocity parameters or in the umbilical artery pulsatility index (PI) before and after CVS in 35 women with a normal pregnancy outcome. One case resulted in fetal loss. Post-CVS median MSAFP levels at 12 weeks (25 kIU/l) and 13 weeks (35 kIU/l) were significantly higher than pre-CVS levels. In three cases, post-CVS MSAFP levels were higher than 600 kIU/l, correlating with feto-maternal transfusions of approximately 1.0-1.4 ml, i.e., of around 40 per cent of feto-placental blood volume. One of these cases displayed absence of fetal peripheral blood flow velocities and fetal bradycardia following TACVS, resulting in fetal loss 1 week later. The remaining two cases had a normal pregnancy outcome, but showed a more than 50 per cent reduction in ductus venosus velocity after TACVS, whereas umbilical artery PI remained unchanged. However, similar velocity changes were associated with only small feto-maternal transfusions. Umbilical artery PI values remained unchanged.

Blood Flow Velocity↗
PubMed1989

Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies.

Data from 1,550 consecutive pregnancies after first-trimester prenatal diagnosis by transcervical chorionic villus sampling (TC-CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5-100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X-linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (greater than or equal to 36 years) against 3.1 per cent in the younger age group. In 1,376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non-genetic congenital anomalies was 0.9 per cent. The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 per cent of women again requested CVS in a subsequent pregnancy.

Abortion, Induced↗
PubMed1996

Correlation between nuchal thickness and abnormal karyotype in first trimester fetuses.

OBJECTIVE: To evaluate the accuracy of ultrasound measurement of nuchal thickness in first trimester fetuses for predicting fetal karyotype. DESIGN: A prospective study of the nuchal thickness of fetuses measured during an ultrasound examination in all women undergoing first trimester chorionic villus sampling (CVS). SETTING: Two major public hospitals and two associated private practices between 7 September 1993 and 6 September 1994. PARTICIPANTS: Pregnant women with various indications for CVS (in 82% because of maternal age). RESULTS: 1306 women underwent CVS, including 11 with twin pregnancies: 1317 fetuses were tested. Karyotype results were obtained for 1312 fetuses: 41 (3.1%) had an abnormal karyotype, and 20 of these (49%) had a nuchal thickness measurement of 3 mm or more, compared with 44 (3.5%) of the 1271 fetuses with a normal karyotype. Of the 21 fetuses shown to have trisomy 21, 12 would have been detected if a nuchal thickness of 3 mm or more had been used as an indicator, giving a sensitivity of 57%. Nuchal thickness measurements of 1 or 2 mm excluded trisomy 21 with a negative predictive value of 99.3%. Fetuses with moderate nuchal thickening, normal karyotype and no other problems noted on the initial ultrasound scan had neonatal outcomes similar to those in the general obstetric population. CONCLUSION: Nuchal thickening in the first trimester (10 weeks on) of pregnancy in a high risk population is a powerful indicator of increased risk of aneuploidy.

Adult↗
PubMed1995

Attitudes to prenatal screening, diagnosis and research among pregnant women who accept or decline an alpha-fetoprotein test.

The aim of the study was to describe the opinion of pregnant women who had accepted or declined an alpha-fetoprotein (AFP) test, not only on AFP screening in general, but also on whether every pregnant woman should be offered amniocentesis (AC)/chorionic villus sampling (CVS) and an ultrasound scan for fetal malformations. An additional aim was to describe pregnant women's attitudes concerning continued research in the prenatal field. The study was performed as a questionnaire study in two regions over a 1-year period from 1 October 1988 to 30 September 1989. Results are based on answers from 3331 women who had taken an AFP test and 336 women who had declined the offer of a test. A total of 79 per cent of the women thought that an AFP test, 70 per cent that an ultrasound scan for fetal malformations, and 26 per cent that AC or CVS should be offered to all pregnant women. Fifty-nine per cent of the women were positive towards continued research in the prenatal field. Women who had had an AFP test were generally much more positive towards screening and research than women who had declined, who were generally against. Women who had left school without a high school degree were on average more positive towards the screening issues that women who had this degree. In conclusion, the results obtained in this study strongly suggest that women's attitudes are very dependent on how the prenatal screening programme is already organized in their local area.

Amniocentesis↗
PubMed1998

An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

OBJECTIVE: To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. METHODS: A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. RESULTS: First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. CONCLUSION: The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

Adult↗
PubMed1994

Amniocentesis performed at 14 weeks' gestation or earlier: comparison with first-trimester transabdominal chorionic villus sampling.

OBJECTIVE: To compare our initial experiences with early amniocentesis and transabdominal chorionic villus sampling (CVS). METHODS: We compared the diagnostic and pregnancy outcomes of our initial 250 patients undergoing early amniocentesis (at or before the 14th completed week of gestation) or transabdominal CVS (performed between 9.5-12.9 weeks' gestation). In both groups, the indication for prenatal diagnosis was advanced maternal age (35 years or older at estimated date of delivery). RESULTS: No diagnostic errors were made using either technique, and the culture failure rate for both methods was 0.8% (two of 250). Seven cytogenetic abnormalities in the early amniocentesis group and seven in the transabdominal CVS group were detected. Nine of the 250 women undergoing early amniocentesis reported spontaneous miscarriages following the procedure, compared to five in the transabdominal CVS group. The loss rates were 3.8% in the early amniocentesis group and 2.1% in the transabdominal CVS group among continuing pregnancies. Frequencies of premature delivery, small for gestational age infants, and associated structural defects in both groups were comparable. CONCLUSIONS: At this time, early amniocentesis cannot be assumed to be equal to conventional transabdominal CVS or amniocentesis with regard to safety or accuracy; only a large cohort randomized study will adequately determine the safety and efficacy of early amniocentesis.

Abdomen↗
PubMed1992

Chorionic villus sampling: transabdominal versus transcervical approach in more than 4000 cases.

OBJECTIVE: To address the evolving trends in the choice of transabdominal or transcervical chorionic villus sampling (CVS) at a teaching hospital and to evaluate the influence of gestational age on the approach chosen. METHODS: We analyzed our CVS data base, which contained information from 1986-1991. The proportions of transabdominal and transcervical CVS were tabulated for each year. In addition, the distribution of the CVS approaches over the various gestational ages was examined. RESULTS: During the study period, 4290 CVS procedures were performed. The rate of the transabdominal technique was stable at about 15% per year except for the first 2 years, when essentially all procedures were transcervical. Use of transabdominal CVS increased with advancing gestational age, from 3.6% at less than 10 weeks' gestation to 97.6% at greater than 14 weeks (chi 2 = 120, P less than .001; r = 0.791). CONCLUSIONS: The choice between the transabdominal and transcervical approach to CVS largely reflects the route emphasized during the physician's training. When choice is based strictly on technical limitations due to placental position, the overall transabdominal CVS rate is approximately 15%. A shift from transcervical to transabdominal CVS occurs with increasing gestational age as the placenta gains bulk and moves away from the cervix. After 14 weeks' gestation, most procedures are performed transabdominally.

Chorionic Villi Sampling↗
PubMed1996

The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells.

Cytogenetic findings and outcome of pregnancy are reported in 108 cases in which confined placental mosaicism (CPM, n = 101) or generalized mosaicism (n = 7) was found at or after first-trimester chorionic villus sampling. In all samples, a (semi)direct cytogenetic analysis of cytotrophoblast cells was performed. Two pregnancies with CPM ended in a spontaneous abortion before 28 weeks (1.9 per cent). In 15 cases the pregnancy was terminated: eight cases were shown to be examples of CPM; seven cases can be considered as examples of generalized mosaicism. A normal cytogenetic result was obtained after follow-up amniocentesis in 88 of the remaining 91 cases. In three cases, no amniocentesis was performed but confirmation of a normal karyotype was obtained in other cells. One of the 91 pregnancies was nevertheless terminated for psychosocial reasons. One child died perinatally and another on the seventh day after birth. The birth weight is known for 89 children; the curve shows a normal distribution. In 11 of these children (12.3 per cent), the birth weight was found to be below the tenth centile. The outcome in a subgroup of eight pregnancies with CPM and involvement of chromosome 13, 16, or 22, however, revealed two fetal losses and four children with a birth weight below the tenth centile (75 per cent).

Abortion, Induced↗
PubMed1992

Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age.

The effect of advancing maternal age on the risk of death of fetuses with certain chromosome abnormalities has been tested by comparing their frequency at the time of chorionic villus sampling (CVS) with that at amniocentesis. The frequency of chromosome abnormalities among women whose sole risk factor for a chromosome abnormality was advanced maternal age (> or = 35 years old) was determined in a pooled group of 15,147 CVS cases, of whom > 1/3 were from the initial 7,500 CVS cases at the University of California, San Francisco, and compared with a pooled group of 74,851 amniocentesis cases collected from the literature. The frequency of trisomy 21 not only increased with advancing maternal age as expected, but the slope of the increase was about 25% greater in the CVS group than in the amniocentesis group (P = 0.08 for the difference in slopes by a logistic statistical model and P = 0.04 by a normit model). Similar patterns were seen for trisomies 18 and 13, but the P values for the differences in slopes were much higher. These results suggest that the miscarriage rate of trisomy 21 during the gestational interval studied is selectively greater with advancing maternal age. The basis for the enhanced selective loss of trisomy 21 with maternal age may be a reduced ability of the ageing "maternal compartment" to compensate for abnormal conceptuses.

Abortion, Spontaneous↗
PubMed1995

New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population.

Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36-52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13,139 having no test. Smoothed regression estimates of age-specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age-related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.

Adult↗
PubMed1998

The role of physician preferences in the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing.

Our objective was to determine the effect of physician preferences, as well as physician demographic, obstetric, and practice-related factors, on the choice of prenatal test made by their patients. We studied preferences for prenatal outcomes for 372 pregnant women who either chose amniocentesis (AMN) (n = 288) or chorionic villus sampling (CVS) (n = 84) for the indication of maternal age. We also studied preferences for these outcomes for the 92 physicians that referred them for testing. Preferences were assessed using written scenarios and were measured on linear rating scales. According to patients, the choice of prenatal test was made entirely or mostly by the physician in 14% of cases and was shared equally between patient and physician in 37% of cases. After adjustment for patient preferences, physician concern about spontaneous abortion of a normal fetus after CVS (odds ratio 0.71; CI, 0.48-1.05; p = 0.08), and a limb reduction (LRD) birth after CVS (odds ratio 0.85; CI, 0.68-1.05; p = 0.12), tended to decrease their patients' odds of choosing CVS, but the results were not statistically significant. No other physician preference, and no physician demographic, obstetric, or practice-related factor, influenced patient test choice. We conclude that after taking patient preferences into account, physician preferences and practice-related factors did not emerge as significant determinants of the choice of prenatal test made by their patients. It remains possible, however, that physician concern about spontaneous abortion and about LRD increase the likelihood of their patients choosing AMN over CVS.

Abortion, Spontaneous↗
PubMed1990

DNA polymorphism and globin chain analysis in the prenatal diagnosis of beta-thalassaemia major in Taiwan.

Thirty-six pregnancies in 25 families at risk of beta-thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the beta-globin gene cluster: epsilon-HincII, G gamma-HindIII, A gamma-HindIII, phi beta-HincII, 3' phi beta-HincII, beta-AvaII, and 3' beta-BamHI. beta-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, beta-thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound-guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea-acetic acid-Triton X-100-12 per cent polyacrylamide gel electrophoresis. beta-Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which beta-thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old. DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of beta-thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.

Chorionic Villi Sampling↗
PubMed2006

Multiplex short tandem repeat DNA analysis confirms the accuracy of p57(KIP2) immunostaining in the diagnosis of complete hydatidiform mole.

Detailed histopathologic examination remains to be the basis for the diagnosis of hydatidiform mole (HM). However, poor sampling, necrosis, and earlier uterine evacuation can lead to uncertainty in the diagnosis. Also, the criteria are subjective, resulting in considerable interobserver variability. The p57(KIP2) gene is paternally imprinted and maternally expressed, and the presence of its protein product serves as a surrogate marker for the nuclear maternal genome. Because a complete HM (CHM) is the only type of conceptus lacking a maternal contribution, p57(KIP2) immunostaining is correspondingly absent, whereas it is present in CHM mimics. Although analysis of DNA microsatellite polymorphisms is a reliable method for the diagnosis and classification of HM, it is not universally available. To assess the relative accuracy of p57(KIP2) immunostaining and molecular diagnosis by nuclear DNA microsatellite polymorphisms in discriminating CHM from its mimics, we analyzed archival tissue from 33 case patients (7 with a definitive diagnosis of CHM, 16 with a possible diagnosis of HM, and 10 with normal placentas) by both methods. Concordant results were obtained in all cases, and p57(KIP2) immunostaining accurately identified all cases of CHM from the groups with a definitive or possible diagnosis of HM. p57(KIP2) immunohistochemistry is a time- and cost-effective means of distinguishing CHM from its mimics in challenging cases.

Alleles↗