Showing papers on "Amniocentesis published in 1999"

Integrated Screening for Down's Syndrome Based on Tests Performed during the First and Second Trimesters

Abstract: Background Both first-trimester screening and second-trimester screening for Down's syndrome are effective means of selecting women for chorionic-villus sampling or amniocentesis, but there is uncertainty about which screening method should be used in practice. We propose a new screening method in which measurements obtained during both trimesters are integrated to provide a single estimate of a woman's risk of having a pregnancy affected by Down's syndrome. Methods We used data from published studies of various screening methods employed during the first and second trimesters. The first-trimester screening consisted of measurement of serum pregnancy-associated plasma protein A in 77 pregnancies affected by Down's syndrome and 383 unaffected pregnancies and measurements of nuchal translucency obtained by ultrasonography in 326 affected and 95,476 unaffected pregnancies. The second-trimester tests were various combinations of measurements of serum alpha-fetoprotein, unconjugated estriol, human chorionic go...

Long term outcome in children of sex chromosome abnormalities

Abstract: An unduly pessimistic description of what it means to have an extra X or Y chromosome is frequently given to the parents of an affected fetus or child by geneticists and paediatricians because the source of their information has been biased towards abnormality. In 1967 the Medical Research Council set up a cytogenetic survey of consecutive newborn infants to establish the incidence of the various chromosome abnormalities. The long term follow up of children with sex chromosome abnormalities ascertained in the survey, which screened 34 380 newborns in Edinburgh between 1967 and 1979, has enabled a more balanced prognosis to be reached. Most boys with the karyotypes 47,XXY and 47,XYY and girls with 47,XXX are never diagnosed. While that may suggest that the conditions are of no importance to the affected individuals, I will show using the following results that this is not the case. Based on the incidence at birth obtained from cytogenetic surveys of around 200 000 infants from the UK, Denmark, Canada, the USA, and Japan, an XXY karyotype was found in 1.3 per 1000 male infants, while XYY and XXX occurred with a frequency of 1 per 1000 male or female infants, respectively.1 Using these incidence figures Abramsky and Chapelle2 found that 10% of expected cases of XXY boys were identified at amniocentesis, a further 26% were diagnosed in childhood or adult life on account of hypogonadism, gynaecomastia, infertility, or developmental delay, leaving 64% undiagnosed. Among XYY boys, where there is no advanced paternal age effect, 85% were calculated to be undiagnosed either before or after birth. Abramsky and Chapelle did not include XXX females, but an estimate can be made from the maternal age distribution of 57 affected newborns where 26% were born to mothers over the age of 35 years. It is reasonable to …

Fetal loss in Down syndrome pregnancies.

Abstract: It is recognized that pregnancies with Down syndrome are liable to end in spontaneous fetal loss. It is important to determine the magnitude of this effect so that it can be taken into account when assessing the results of antenatal screening programmes for Down syndrome. Failure to do so will tend to overestimate the detection rate in intervention studies in which the screening results are used to identify women for a diagnostic test and the offer of a termination of pregnancy if indicated. We present new data on the spontaneous fetal loss in Down syndrome pregnancies from the National Down Syndrome Cytogenetic Register (1989–1996). We compare our results with published results of other studies on the subject to obtain a summary estimate. We exclude one study from the meta analysis due to incorrect methodology resulting in an overestimate of fetal loss. Based on the combined data (i) between the time of chorionic villus sampling and term an estimated 43 per cent (95 per cent CI: 31–54 per cent) of pregnancies ended in a miscarriage or still birth, (ii) between the time of amniocentesis and term an estimated 23 per cent (95 per cent CI: 19–28 per cent) of pregnancies ended in a miscarriage or still birth, and (iii) 12 per cent (95 per cent CI: 2–23 per cent) of births were stillborn or resulted in a neonatal death. Copyright © 1999 John Wiley & Sons, Ltd.

First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia

Abstract: ContextSickle cell anemia is a common autosomal recessive disorder. However, preimplantation genetic diagnosis (PGD) for this severe genetic disorder previously has not been successful.ObjectiveTo achieve pregnancy with an unaffected embryo using in vitro fertilization (IVF) and PGD.DesignLaboratory analysis of DNA from single cells obtained by biopsy from embryos in 2 IVF attempts, 1 in 1996 and 1 in 1997, to determine the genetic status of each embryo before intrauterine transfer.SettingUniversity hospital in a large metropolitan area.PatientsA couple, both carriers of the recessive mutation for sickle cell disease.InterventionsStandard IVF treatment, intracytoplasmic sperm injection, embryo biopsy, single-cell polymerase chain reaction and DNA analyses, embryo transfer to uterus, pregnancy confirmation, and prenatal diagnosis by amniocentesis at 16.5 weeks' gestation.Main Outcome MeasureDNA analysis of single blastomeres indicating whether embryos carried the sickle cell mutation, allowing only unaffected or carrier embryos to be transferred.ResultsThe first IVF attempt failed to produce a pregnancy. Of the 7 embryos analyzed in the second attempt, PGD indicated that 4 were normal and 2 were carriers; diagnosis was not possible in 1. Three embryos were transferred to the uterus on the fourth day after oocyte retrieval. A twin pregnancy was confirmed by ultrasonography, and subsequent amniocentesis revealed that both fetuses were unaffected and were not carriers of the sickle cell mutation. The patient delivered healthy twins at 39 weeks' gestation.ConclusionThis first unaffected pregnancy resulting from PGD for sickle cell anemia demonstrates that the technique can be a powerful diagnostic tool for carrier couples who desire a healthy child but wish to avoid the difficult decision of whether to abort an affected fetus.

Hyperglycosylated Human Chorionic Gonadotropin (Invasive Trophoblast Antigen) Immunoassay: A New Basis for Gestational Down Syndrome Screening

Abstract: Background: Serum human chorionic gonadotropin (hCG) and hCG free β-subunit tests are used in combination with unconjugated estriol and α-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: ∼40% for hCG or free β-subunit alone, ∼60% for the triple screen test, and ∼70% for the quadruple marker test, all at 5%, or a relatively high, false-positive rate. New tests are needed with higher detection and lower false rates. Hyperglycosylated hCG (also known as invasive trophoblast antigen or ITA) is a new test. It specifically detects a unique oligosaccharide variant of hCG associated with Down syndrome pregnancies. We evaluated this new Down syndrome-directed test in prenatal diagnosis. Methods: Hyperglycosylated hCG was measured in urine samples from women undergoing amniocentesis for advanced maternal age concerns at 14–22 weeks of gestation, 1448 with normal karyotype and 39 with Down syndrome fetuses. Results: The median hyperglycosylated hCG value was 9.5-fold higher in Down syndrome cases (9.5 multiples of the normal karyotype median). The single test detected 80% of Down syndrome cases at a 5% false-positive rate. Urine hyperglycosylated hCG was combined with urine β-core fragment (urine breakdown product of serum hCG free β-subunit), serum α-fetoprotein, and maternal age-related risk. This urine-serum combination detected 96% of Down syndrome cases at a 5% false-positive rate, 94% of cases at a 3% false-positive rate, and 71% of cases at a 1% false-positive rate. These detection rates exceed those of any previously reported combination of biochemical markers. Conclusions: Hyperglycosylated hCG is a new base marker for Down syndrome screening in the second trimester of pregnancy. The measurement of hyperglycosylated hCG can fundamentally improve the performance of Down syndrome screening protocols.

Prenatal diagnosis of human cytomegalovirus by culture and polymerase chain reaction: 98 pregnancies leading to congenital infection

Abstract: Human cytomegalovirus (HCMV) is the most common cause of viral intra-uterine infection. The experience with prenatal diagnosis remains limited and is based on few reports of small numbers of cases. It is thus difficult to compare the accuracy of the different tests because the groups studied were small and heterogeneous. We describe here our experience on a series of 98 pregnancies leading to HCMV congenital infection, among which 71 have been tested by amniotic fluid (AF) sampling followed by culture and/or polymerase chain reaction (PCR). Independently of the delay between AF sampling and the first HCMV IgM positive result, the mean sensitivity of both culture and PCR was around 70 per cent. The best sensitivity (95.5 per cent) was obtained after a delay > or = 6 weeks in late pregnancy (> or = 23 weeks). The present study demonstrated clearly that the delay between AF puncture and the presumed date of seroconversion is more important for sensitivity than the technique used for the diagnosis (PCR or culture). However, even in the best diagnostic conditions, negative results of HCMV culture or PCR in AF cannot formally exclude intra-uterine infection.

Informed consent to serum screening for Down syndrome: are women given adequate information?

Abstract: To assess the information given to women during a maternal serum screening (MSS) programme, we prospectively applied a questionnaire to 504 pregnant women attending for amniocentesis after a screen-positive result. The survey based on 200 usable questionnaires (39·7 per cent of our study population) showed that MSS was imposed as mandatory by 41·5 per cent of providers and done without their patients' agreement by 16 per cent. After release of the test results, 6·5 per cent of women believed that they were carrying a Down syndrome-affected fetus and 21·5 per cent thought the risk was about 50–50. A total of 38·5 per cent of the pregnant women were not informed of the risk of miscarriage after amniocentesis and 67·5 per cent believed that there was no possibility of a false-negative result with MSS. Information given over the telephone was particularly poorly understood compared with information provided during an outcome visit, since women who learned of their test result during such a visit scored significantly higher (69 per cent) when questioned about the risk of carrying a Down syndrome-affected fetus, compared with women informed of their test results by telephone (38·7 per cent) or by letter (47 per cent). We therefore suggest routine consultation with an antenatal care professional before testing to enable pregnant women to give their informed consent to MSS. Copyright © 1999 John Wiley & Sons, Ltd.

Detection of fetal-derived paternally inherited X-chromosome polymorphisms in maternal plasma.

Abstract: The recent demonstration of the presence of cell-free fetal DNA in the plasma and serum of pregnant women opens up new possibilities for noninvasive prenatal diagnosis (1)(2)(3)(4)(5). However, many published reports have used Y-chromosomal sequences that are present in a male fetus as a marker (1)(6)(7), an approach that is not applicable to the 50% of pregnancies that involve a female fetus. A marker allowing the positive identification of DNA from a female fetus in maternal plasma would be useful for the investigation of sex-linked genetic disorders and for the extension of studies on pathologies involving fetal DNA abnormalities (7)(8) to pregnancies involving female fetuses. We reason that because the female fetus would have inherited a paternally derived copy of the X-chromosome, short tandem repeat (STR) polymorphisms on this chromosome could potentially be used as a fetus-specific marker for female fetal DNA. In this study, we tested this hypothesis using a panel of STRs on the X-chromosome. Blood samples from pregnant women were collected into tubes containing EDTA. Plasma was harvested as described previously (9). We studied samples from 25 women with female fetuses as ascertained at delivery. Informed consent was obtained, and the study was approved by the Clinical Research Ethics Committee. In 10 cases, samples were collected during the second trimester (mean gestational age, 18 weeks; range, 16–19 weeks) just before amniocentesis. …

Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases.

Abstract: Objective: A new method in prenatal diagnostics allows to demonstrate certain numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to conventional methods which take 1–3 weeks. Materials: The experience with this rapid fluorescence in situ hybridization (FISH) method is compared to standard karyotyping and its clinical relevance is described in a large clinical pilot study. FISH on uncultured amniocytes has been performed from 12 weeks of gestation to the third trimester using commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. Results: FISH was performed successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis. Neither false-positive nor false-negative results were obtained using FISH. For all analyzable disorders the FISH results were in complete agreement with standard cytogenetics. Conclusions: In our experience, FISH is a valuable and reliable method for rapid diagnosis of numeric chromosomal aneuploidies.

Preferences of women facing a prenatal diagnostic choice: long-term outcomes matter most.

Abstract: Women aged 35 or older who wish to undergo prenatal diagnosis for chromosomal disorders are typically offered a choice between chorionic villus sampling or amniocentesis. These two tests are performed at different times and impose differing miscarriage risks. In deciding which test to use, therefore, women need to consider both short-term consequences (e.g. timing of pregnancy loss, should it occur) and long-term consequences (e.g. whether a pregnancy loss is followed by a future birth). We examined how women seeking prenatal diagnostic services value the outcomes of testing. We conducted a cross-sectional study of 72 women seeking genetic counselling at the University of California at San Francisco or Kaiser San Francisco. We measured preferences for outcomes (utilities) of prenatal diagnosis using the standard gamble metric. We also assessed demographics and attitudes via questionnaire. We observed no differences in mean utilities assigned to first- versus second-trimester pregnancy losses with similar long-term sequelae. Utilities for losses followed by future birth, however, were significantly higher than utilities for losses without future birth (range 0.91 to 0.93 versus 0.84 to 0.86, p<0.05 for all comparisons). In addition, we observed substantial variation in utilities across women. Long-term outcomes matter most to these women. In presenting prenatal diagnostic options to their patients, clinicians should include discussion of outcomes such as the likelihood of future birth in the event of a pregnancy loss. Furthermore, the substantial variation in utilities we observed suggests that future prenatal testing policies should account for the preferences of the individual woman.

Noninvasive determination of fetal RhD status using fetal DNA in maternal serum and PCR

Abstract: Because prenatal testing of fetal RhD status by amniocentesis carries small yet finite risks to the fetus and mother, this study sought to determine whether fetal DNA in maternal serum could be used to detect fetal RhD status by polymerase chain reaction (PCR). A retrospective analysis was made of frozen serum specimens from 20 sensitized RhD-negative pregnant women (ranging from 15.0 to 36.0 weeks’ gestation) who were confirmed by serology at birth to have been carrying RhD-positive fetuses. Eleven serum specimens from RhD-negative individuals served as controls. DNA was isolated from serum and used in two PCR-based methods to detect a 99 base pair (bp) DNA fragment specific for the RhD gene and a 113 bp fragment specific for the RhCE gene as control. Overall, in 14 (70%) of 20 RhD-positive fetuses the 99 base pair RhD-specific PCR product was detected. There was no false positive detection among the 11 control serum specimens. The results illustrate the ability to detect fetal RhD sequences in maternal serum of sensitized women. Moreover, the findings demonstrate that fetal single-gene disorders can be detected prenatally by using DNA isolated only from maternal serum.

Ethnicity, bioethics, and prenatal diagnosis: the amniocentesis decisions of Mexican-origin women and their partners.

Abstract: Bioethical standards and counseling techniques that regulate prenatal diagnosis in the United States were developed at a time when the principal constituency for fetal testing was a self-selected group of White, well-informed, middle-class women. The routine use of alpha-fetoprotein (AFP) testing, which has become widespread since the mid-1980s, introduced new constituencies to prenatal diagnosis. These new constituencies include ethnic minority women, who, with the exception of women from certain Asian groups, refuse amniocentesis at significantly higher rates than others. This study examines the considerations taken into account by a group of Mexican-origin women who had screened positive for AFP and were deciding whether to undergo amniocentesis. We reviewed 379 charts and interviewed 147 women and 120 partners to test a number of factors that might explain why some women accept amniocentesis and some refuse. A woman's attitudes toward doctors, medicine, and prenatal care and her assessment of the risk...

Profiling steroid hormones in amniotic fluid of midpregnancy by routine stable isotope dilution/gas chromatography-mass spectrometry: reference values and concentrations in fetuses at risk for 21-hydroxylase deficiency.

Abstract: Using routine stable isotope dilution/gas chromatography-mass spectrometry, 17-hydroxyprogesterone, androstenedione, testosterone, dehydroepiandrosterone, androstanediol, and 5α-dihydrotestosterone have been profiled in amniotic fluid of midgestation in 77 normal fetuses and 38 untreated or dexamethasone-treated fetuses at risk for 21-hydroxylase deficiency. Dexamethasone was suspended 5–7 days before amniocentesis. In normal fetuses, amniotic fluid concentrations (median, range; nanograms per mL) of 17-hydroxyprogesterone did not reveal a sex difference (1.48, 0.21–4.96), whereas those of androstenedione were lower in females (0.53, 0.00–2.71) than in males (0.93, 0.29–1.98). Testosterone levels were higher in males (0.24, 0.00–0.50) than in females (0.00, 0.00–0.27). No sex difference was found for dehydroepiandrosterone (0.47, 0.19–1.77). Levels of androstanediol and 5α-dihydrotestosterone were below the detection limit of our method in most cases. Regarding prenatal diagnosis of 21-hydroxylase deficie...

Prenatal screening for Down's syndrome--a search for the family's values

Abstract: Since the introduction of amniocentesis for the prenatal detection of genetic diseases, there has been a progressive refinement of the criteria used to determine who should be offered the test. Ini...

Ureaplasma/Mycoplasma-infected amniotic fluid: pregnancy outcome in treated and nontreated patients.

Abstract: Objective To determine if treatment of a positive amniotic fluid culture for mycoplasmal colonization obtained at genetic amniocentesis is associated with improved pregnancy outcome. Study design A retrospective analysis of 2718 genetic amniocentesis specimens cultured for Ureaplasma/Mycoplasma was undertaken. Specimens were obtained between March 1993 and January 1997. The Irvine culture kit was used to culture all specimens. Data collected included indication for amniocentesis, gestational age at amniocentesis, karyotype, gestational age at delivery, pregnancy outcome, and any antimicrobial treatment. Results During this time period 44 patients were found to be culture-positive for Ureaplasma/Mycoplasma. Thirty-five were treated with oral erythromycin. Mid-trimester loss was 11.4% and 44.4% (p = 0.04) in the treated and untreated groups, respectively. Preterm delivery was similar in the two groups, 19.4% and 20% (p = NS). Conclusion Treatment of an amniotic mycoplasmal colonization with erythromycin was associated with fewer mid-trimester losses after genetic amniocentesis. Preterm delivery rates between the two groups were similar, which may indicate recolonization.

Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population.

Abstract: The objective of this study was to determine the relative risk for aneuploidy in the presence of a cardiac intraventricular echogenic focus in a patient population at high risk for aneuploidy A retrospective cohort study was conducted on patients referred to a fetal diagnostic center who were undergoing amniocentesis Records and second trimester sonograms were reviewed Approximately 5100 comprehensive prenatal sonograms were obtained over a 2 year study period Karyotyping by amniocentesis was done in 2412 women; 84 of the karyotypes (35%) were abnormal Fetuses with no ultrasonographic findings suggestive of aneuploidy had a 14% (28 of 1940) prevalence of significant chromosomal abnormalities An intraventricular echogenic focus was found in 149 of the women with karyotype analysis; 15 had an abnormal karyotype Fetuses with intraventricular echogenic foci had a relative risk of 330 of aneuploidy when compared to fetuses without echogenic cardiac foci The presence of an isolated intraventricular echogenic focus carried a relative risk of 408 compared to those fetuses in which ultrasonography had no finding associated with aneuploidy In conclusion, these preliminary data indicate that presence of an intraventricular echogenic cardiac focus carries an increased risk of fetal aneuploidy

Therapeutic plasma concentrations of human factor IX in mice after gene delivery into the amniotic cavity: a model for the prenatal treatment of haemophilia B.

Abstract: Background Several groups including our own have reported gene delivery to fetal organs by vector administration into the amniotic cavity. Based on these studies we hypothesised that the large surface of the fetal skin may be exploitable for high level production of systemically required gene products to be released into the fetal circulation. Methods We administered E1/E3-deleted adenoviral vectors carrying a bacterial β-galactosidase gene or the human coagulation factor IX gene into the amniotic cavities of mid- to late-gestation mouse fetuses. The concentrations of human factor IX in the plasma of fetal or new-born mice were determined by ELISA. Reverse transcription PCR was used to identify sites of transgene expression. Results Application of 5×108 infectious units of the factor IX gene vector in utero resulted in plasma concentrations of human factor IX of up to 1.2 µg/ml without significant decrease in fetal survival. Transgenic protein was found to be produced in the fetal skin, mucosae and amniotic membranes and was shown to be present for several days after birth of healthy pups. Conclusion As ultrasound-guided amniocentesis in humans is a well-established diagnostic procedure, delivery of the factor IX gene into the amniotic cavity appears to be a safe route for prenatal treatment of haemophilia B and may prevent haemorrhagic complications such as intracranial bleeding during delivery. Our study allowed for the first time a quantification of the expression of a potentially therapeutic transgene in rodents after prenatal gene delivery. It thus provides a model for the prenatal treatment of haemophilia B, but may also serve as a pathfinder to gene therapy of inheritable skin disorders such as epidermolysis bullosa. Copyright © 1999 John Wiley & Sons, Ltd.

Fetal RhD genotyping from maternal plasma.

Abstract: The prenatal diagnosis of fetal rhesus D (RhD) status is useful for the management of RhD-negative women with partners heterozygous for the RHD gene. Conventional methods for prenatal fetal RhD status determination involve invasive procedures such as fetal blood sampling and amniocentesis. The recent demonstration of the existence of cell-free fetal DNA in maternal plasma and serum opens up the possibility of determining fetal RhD status by analysis of maternal plasma or serum DNA. This possibility has recently been realized by three independent groups of investigators. This development represents an important step towards the routine application of noninvasive fetal blood group diagnosis in sensitized pregnancies and may become a model for developing safer noninvasive prenatal tests for other single-gene disorders.

Technical factors in early amniocentesis predict adverse outcome. Results of the Canadian Early (EA) versus Mid-trimester (MA) Amniocentesis Trial.

Abstract: The purpose of this study was to identify risk factors for fetal loss and other pregnancy complications associated with genetic amniocentesis. Data were acquired in the Canadian Early Amniocentesis Trial (CEMAT), a multicentered (12) prospective, randomized trial comparing continuous ultrasound-guided early amniocentesis (EA) and mid-trimester amniocentesis (MA) (CEMAT Group, 1998). Details of the procedure were recorded and analysed by allocation (EA versus MA), operator and centre, and correlated with pregnancy outcome. A total of 62 spontaneous pregnancy losses occurred between the procedure and 20 weeks' gestation among the 3691 patients who received their procedures within the allocated window (EA=53/1916, MA=9/1775). Technical factors correlating with these losses included procedures 'judged to be difficult' by the operator, and post-procedure amniotic fluid leakage or bleeding. Maternal risk factors included maternal hypertension (fetal loss 11. 1 per cent, compared with non-hypertensive women, 2.6 per cent) increased body mass index (BMI) and gravidity of three or greater. Allocation to EA was predictive of fetal loss, as well as failed procedure, multiple needle insertions, amniotic fluid leakage, failed culture and talipes equinovarus, in excess compared with MA. In conclusion, in this large prospective randomized trial evaluating amniocentesis, specific maternal, fetal and procedural variables were found to be predictive of fetal loss and adverse pregnancy outcome. Performing amniocentesis before 13 weeks' gestation (EA) was the major predictive factor for adverse outcome. These data suggest that first-trimester chorionic villus sampling (CVS) and MA will likely remain the invasive procedures of choice for evaluation of fetal karyotype.

The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study

Abstract: We report 611 non-mosaic and 91 mosaic findings of trisomies 13, 18 and 21, and numerical sex chromosome abnormalities in a series of 20 527 CVS, in the Association of Clinical Cytogeneticists U.K. Collaborative Study, the majority with analysis of both direct preparations and cultured cells. No false-positive results were encountered among the 611 non-mosaic cases, making these findings a very reliable indicator of the fetal karyotype. One false-negative case was reported. In contrast, the 91 mosaic abnormalities were unreliable predictors of fetal abnormality. Many were associated with normal outcomes, but a significant proportion of cases of each individual aneuploidy proved genuine. Mosaicism for 45,X, and trisomies 13 and 18 was disproportionately common. 17 of the mosaic cases showed complete discordance between the karyotype from direct preparations and that from cultured cells. All would have resulted in either a false-positive or a false-negative finding if only one technique had been used. Based on our experience, and that of others, we believe that the highest level of predictive accuracy using CVS can only be achieved if both direct preparation and cell culture are performed. In addition, we continue to recommend that all pregnancies demonstrating mosaicism for these aneuploidies at CVS undergo amniocentesis or fetal blood sampling to differentiate between confined placental mosaicism and true fetal karyotypic abnormality. Copyright © 1999 John Wiley & Sons, Ltd.

Male partners' role in Latinas' amniocentesis decisions.

Abstract: There has been relatively little research on men's experiences with fetal diagnosis or their role in their female partners' decisions about whether to be tested. This issue may be of particular salience in the delivery of genetic services to Latino groups, where it is often assumed that lower rates of genetic service utilization are linked to men's refusal to allow their wives to be tested. Here we present data from a multimethod study on the use of amniocentesis by Mexican-origin women in Southern California. We focus on the role male partners played in the women's amniocentesis decisions. Contrary to expectation, we found that women made the majority of the decisions about amniocentesis, although their partners' presence at the genetic consultation where the amniocentesis was offered proved an important predictive factor in amniocentesis uptake.