Showing papers on "Amniocentesis published in 1989"

The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities

Abstract: Chorionic villus sampling is a method of prenatal diagnosis in the first trimester of pregnancy in which tissue for genetic study is aspirated from the developing placenta by means of a catheter inserted transcervically under the guidance of ultrasonography. In this seven-center study, we compared the safety and efficacy of chorionic villus sampling in 2278 women with those of amniocentesis at 16 weeks' gestation in 671 women. Both groups were made up primarily of well-educated private patients; they were recruited in the first trimester of pregnancy and had viable pregnancies verified by ultrasound examination. Cytogenetic diagnoses resulted from 97.8 percent of the chorionic villus sampling procedures and 99.4 percent of the amniocenteses (P less than 0.05); aneuploidy was found in 1.8 and 1.4 percent, respectively, of the cases in which diagnoses were made. Of the women who underwent chorionic villus sampling, 17 (0.8 percent) subsequently had an amniocentesis because the diagnosis was ambiguous. Two of the diagnoses of aneuploidy (one tetraploidy, one trisomy 22) were later proved to be incorrect. On the basis of pediatric examination of the infants subsequently born to the women in the sample, there were no errors in the determination of sex or the identification of the major trisomies (21, 18, and 13). The rate of combined losses due to spontaneous and missed abortions, termination of abnormal pregnancies, stillbirths, and neonatal deaths was 7.2 percent in the group that underwent chorionic villus sampling and 5.7 percent in the group that had amniocentesis. After adjustment for slight differences in gestational and maternal age, the total loss rate for the women in the chorionic villus sampling group exceeded that for the amniocentesis group by only 0.8 percentage points (80 percent confidence interval, -0.6 to 2.2). The rate of loss of chromosomally normal fetuses after chorionic villus sampling was 10.8 percent among women in whom three or four attempts were made to place the transcervical catheter, as compared with 2.9 percent in those in whom only one attempt was necessary (P less than 0.01). There were no serious maternal infections among the women in this study or among an additional 1990 women who underwent chorionic villus sampling (upper 95 percent confidence limit, 0.08 percent). We conclude that chorionic villus sampling is a safe and effective technique for the early prenatal diagnosis of cytogenetic abnormalities, but that it probably entails a slightly higher risk of procedure failure and of fetal loss than does amniocentesis.

Recent trends in the prevalence and secondary prevention of Down's syndrome.

Abstract: Examination of data from the Glasgow Registry of Congenital Anomalies indicated that 184 infants with Down's syndrome were born (live or still) to mothers residing in the Greater Glasgow Health Board area between 1974 and 1986 inclusive. This represents a period prevalence of 1.1 per 1000 total births. Despite a strongly positive correlation between prevalence and maternal age, most of the Down's syndrome infants were born to mothers aged under 35 years. There was no evidence either of a recent decline in the annual prevalence rate or of a changing pattern of risk in relation to maternal age. Antenatal diagnosis resulted in the termination of less than a tenth of all Down's syndrome pregnancies. These findings point to a need for further aetiological research, for continued epidemiological monitoring, for an improvement in the relatively low uptake of amniocentesis by older mothers, and for the development of a screening test which can be offered to the entire pregnant population.

The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes.

Abstract: We report the results of an ongoing survey of rates of spontaneous death of fetuses with chromosome abnormalities detected at second-trimester amniocentesis in which the mother did not elect abortion. Estimated excess risks (and conservative 90% confidence intervals) of spontaneous fetal death for various cytogenetic abnormalities are as follows: 47,+21, 25.6% (18.0%-34.0%); 47,+18, 63.8% (49.3%-79.8%); 47,+13, 36.5% (11%-69.7%); 45,X, 65.3% (41.0%-84.2%); and mosaic 45,X/46,XX, 10.8% (1.0%-26.8%). There is little evidence for an excess risk of fetal death, at least following amniocentesis, for 47,XXX, 47,XXY, or 47,XYY. The excess risks of fetal death were adjusted for the likelihood that a fetus of normal karyotype would undergo spontaneous fetal death in a population of older maternal age similar to that in which prenatal cytogenetic diagnosis is undertaken. The absolute fetal death rates when this factor is ignored are about 3.5% higher (i.e., may be derived by adding 3.5% to the values given). The excess risks are those which are most appropriate for use in estimating the contribution of chromosome abnormalities to spontaneous fetal death.

Effect of fetal movement, ultrasound scans, and amniocentesis on maternal-fetal attachment.

Abstract: The effects of fetal movement, ultrasound scans, and amniocentesis on maternal-fetal attachment and perception of fetal development in normal pregnancy were examined in 91 women during the second trimester. Women who reported feeling fetal movement early in pregnancy had higher maternal-fetal attachment scores and higher perception of fetal development scores. Ultrasound scans had no effect on either variable. Women who had genetic amniocentesis had lower attachment scores before the procedure, but one month later the attachment scores were not significantly different from those of other women. Both maternal-fetal attachment and perceptions of fetal development increased significantly from 16 to 20 weeks of gestation. There was a small but significant correlation between attachment scores and perception of fetal development.

A window for the study of prenatal sex hormone influences on postnatal development.

Abstract: In humans, the influence of prenatal sex hormones on the fetal brain and subsequent postnatal development has had limited study because of the apparent inaccessibility of hormone levels in normal fetuses. We propose that amniotic fluid obtained via midtrimester amniocentesis can be assayed for fetal hormone levels during the period thought to be important for sexual differentiation of the brain. Amniotic fluid samples from midgestation (N = 70) were assayed for levels of testosterone and follicle-stimulating hormone, and significant sex differences were observed (ps less than .001), with some degree of overlap between the sexes. The possibility of applying hormone levels obtained from amniotic fluid to the study of postnatal development is discussed.

The European collaborative study on mosaicism in chorionic villus sampling: data from 1986 to 1987.

Abstract: Data on a total of 11 855 diagnostic chorionic villus samples obtained in the years 1986 and 1987 were compiled from a questionnaire filled in by 36 European cytogenetic centres. Mosaicism was reported in 141 cases. The cytogenetic findings were followed by induced abortion in 24 cases. Spontaneous abortion was observed in nine mosaic pregnancies, a rate not significantly different from that observed for CVS in total. Mosaicism was found in 1.2 per cent of analyses by direct analysis/short-term culture, in contrast to the 0.6 per cent found after long-term culture. Evidence for fetal non-mosaicism was found in 99 of the 141 cases. The finding of mosaicism in first-trimester CVS should always elicit further analyses, preferably after amniocentesis, to substantiate the suspected fetal chromosome aberration.

Prenatal diagnosis of congenital toxoplasmosis

Abstract: Primary Toxoplasmosis is devoid of any consequences in the mother in most cases, while the fetus can suffer serious damages following transplacental passage of the parasite This is probably due to its limited immunocompetence 440 women have been seen for suspected primary infection during pregnancy: clinical and serological parameters excluded infection in 62% of the cases In 168 cases primary infection was likely and they underwent therapy with Spiramycin 3 grams per day to prevent placental and fetal colonization: 53 cases were elected for invasive prenatal diagnosis Amniotic fluid was obtained by amniocentesis and fetal blood by ultrasound guided cordocentesis and by fetoscopy: the samples were analyzed for specific anti Toxoplasma IgM and sent for isolation of the parasite Diagnosis of fetal infection was made in 4 cases: 3 cases had specific IgM in cord blood, 1 case showed intracranial calcifications by ultrasound screening Fetal infection rate is thus below 10% and prenatal diagnosis avoids unjustified interruption of pregnancies complicated by maternal toxoplasmic infection

The sagittal sign. An early second trimester sonographic indicator of fetal gender.

Abstract: The sagittal sign for sonographic prediction of fetal gender in the early second trimester is described and its sensitivity and accuracy evaluated. One hundred eighty-four ultrasound examinations with gestational ages between 10 weeks and 20.5 weeks were performed in 165 patients over a three month period. Of the 165 patients included in this prospective study, the gender of the fetus in 105 patients was known as a result of amniocentesis or chorionic villus sampling. These 105 patients with known results were used to compare gender prediction based on conventional views with prediction based on the sagittal sign. The results of this study reveal the superiority of the sagittal view for predicting gender in the gestational age group of 14 weeks to 20.5 weeks.

A 1 and 6 month follow-up of prenatal diagnosis patients who lost pregnancies.

Abstract: This paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi-structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss-related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss-related support from significant others showed the greatest levels of mood disturbance at the six-month assessment. Follow-up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow-up or referral of those experiencing the greatest distress.

Chromosome mosaicism in 6,000 amniocenteses.

Abstract: Multiple cell–multiple flask mosaicism was found in 0.20% of 6,000 amniocenteses, and multiple cell–single flask mosaicism was found in 0.92%. Multiple cell–multiple flask mosaicism usually was found in fetal or infant tissues at delivery or elective abortion. Most multiple cell–multiple flask mosaicism involved sex chromosomes and was either 45, X/46, XY or 45, X/46, XX. Except for one fetus with 45, X/46, XX and an aortic coarctation, phenotypic abnormalities associated with sex chromosome mosaicism were not found in these patients. One normal boy has continued to show 45,X mosaicism during the first 4 years of life. Autosome abnormalities found in multiple cell–multiple flask mosaicism included del(18q) associated with fetal anomalies. Apparently normal phenotypes were associated with prenatal trisomy 17, two de novo supernumerary marker chromosomes, and monosomy 21. Since an aberrant cell line present in only one primary amniotic fluid cell culture was occasionally identified from another amniocentesis or at birth, multiple cell–single flask mosaicism involving a sex chromosome or a viable autosome abnormality cannot be assumed to be an in vitro event. Maternal cell contamination, which was found in 0.49% of amniocenteses, could have resulted in an erroneous diagnosis of fetal sex in two cases if cells from independent culture vessels were not examined.

Amniotic fluid arachidonate lipoxygenase metabolites in preterm labor.

Abstract: This study was conducted to determine if preterm labor with intact membranes is associated with changes in the amniotic fluid concentrations of arachidonate lipoxygenase metabolites. Amniotic fluid was obtained by transabdominal amniocentesis from 68 women with preterm labor. The patients were classified into three groups according to their response to tocolysis and their amniotic fluid culture results: Group 1 — women with a negative amniotic fluid culture who responded to tocolysis (n = 32); Group 2 — women with a negative culture, but who failed to respond to tocolysis (n = 22); and Group 3 — women with intraamniotic infection (n = 14). The following arachidonate lipoxygenase products were measured by radioimmunoassay: leukotriene B 4 (LTB 4 ); leukotriene C 4 (LTC 4 ); 12-hydroxyeicosatetraenoic acid (12-HETE); and 15-hydroxyeicosatetraenoic acid (15-HETE). The median concentrations of LTB 4 were significantly different among the three study groups (26 pg/ml, 67 pg/ml and 885 pg/ml, respectively, p > 0.05). Amniotic fluid concentrations of 12-HETE and LTC 4 did not vary among the three study groups. On the other hand, a significant difference in the distribution of amniotic fluid concentrations of 15-HETE was noted only between women with intraamniotic infection (Group 3) and women responding to tocolysis (Group 1). These results indicate that the arachidonate lipoxygenase pathway is activated during the course of preterm labor. Selective changes in the concentrations of the assayed metabolites were noted. Amniotic fluid LTB 4 concentrations may be a marker for the patient with preterm labor who is unresponsive to tocolysis.

Congenital condylomata acuminata with meconium staining of amniotic fluid and fetal hydrocephalus: case report.

Abstract: An infant was born with condylomata acuminata by caesarean section to a mother who had the same disease during the antenatal period. Prior to delivery amniocentesis done to obtain fluid for surfactant test revealed meconium stained amniotic fluid (MSAF). There was no history of premature rupture of membranes neither did the infant get into direct contact with maternal lower genital tract. The circumstances here suggest congenital (prenatal) transmission of the human papilloma virus (HPV). This is the only documented case of such transmission with fetal membranes remaining intact upto the time of delivery. The baby was noticed to have hydrocephalus at delivery. This raises a possible association between congenital transmission of HPV and this congenital anomaly. Confirmation of this however, must await more case reports and further scientific validation.

Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample.

Abstract: Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus.

Prenatal diagnosis and psychological distress: amniocentesis or chorionic villus biopsy?

Abstract: The psychological reactions of 211 women undergoing prenatal diagnosis (PND) with amniocentesis (group A, n = 122) or chorionic villus biopsy (group V, n = 90) were examined by questionnaires and interviews. The distress experienced while waiting for the test, during the test procedure, and while waiting for the result was reported by the women, both in questionnaires and in interviews. In the questionnaires, no difference between the two diagnostic methods was observed. In the interviews, however, the women undergoing amniocentesis appeared significantly more distressed by the procedure. In group A 97 per cent and in group V 100 per cent wished a method which, like chorionic villus biopsy, could be used in the first weeks of pregnancy. The risk of miscarriage was, as described in other studies, regarded as a serious threat by the pregnant women.

Trisomic 22 placenta in a case of severe intrauterine growth retardation.

Abstract: We describe a case in which a trisomic 22 placenta could be the cause of severe growth retardation in a chromosomally normal female fetus. At amniocentesis a mosaic 46,XX/ 47,XX, +22 was observed in amniotic fluid specimens sampled on two different occasions, while fetal blood from a diagnostic cordocentesis revealed a normal chromosome constitution. Postnatal studies showed the consistent presence of trisomic 22 cells in the placenta, while only normal metaphases were found in amnion, blood, and fibroblast cultures.

Prenatal detection of trisomy 9 mosaicism

Abstract: Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism--an inconsequential tissue culture artefact; or (2) true mosaicism--occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, +9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.