Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion

De novo satellited non-acrocentric chromosomes are very rare findings in prenatal diagnosis. Here we report the first case of a de novo 18ps, associated with del(18p), detected at prenatal diagnosis. A 37 years old woman underwent Chorionic Villus Sampling (CVS) for advanced maternal age. Cytogenetic analysis on direct CVS preparation (CVSc) revealed a male karyotype with a nonfamilial satellited 18ps and a reciprocal translocation t(17;19)(P11.1;q11) of maternal origin. The mesenchimal CVS culture (CVSm) showed a mosaic of cell lines with various involvement of chromosome 18: 18ps [36/70]/ r(18) [25/70]/ del(18p) [3/70]/ -18 [6/70]. Amniotic fluid cells (AFC) confirmed the homogeneous karyotype found at CVSc. The molecular cytogenetic characterization, performed on AFC, allowed the following diagnosis: 46,XY, +15, dic(15;18)(p11.1;p11.2), t(17;19)(p11.1;q11)mat. ish dic(15;18)(tel 18p-, D15Z1+, wcp18-, wcp 18+, D18Z1+, tel 18q+). The foetal autopsy disclosed subtle facial dysmorphisms and corpus callosum hypoplasia. In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements.     

Use of prenatal diagnostic procedures in pregnancies affected with birth defects, Hawaii, 1986-2002

BACKGROUND: Information on the utilization of prenatal ultrasound (US), amniocentesis (AC), and chorionic villus sampling (CVS) in pregnancies affected by birth defects in the United States is limited. The intent of this study was to report on the utilization of these procedures in Hawaii. METHODS: Cases were all infants and fetuses of any pregnancy outcome with birth defects, included in a Hawaii birth defects registry, and delivered during 1986-2002. The rates of prenatal US, AC/CVS, and prenatal diagnosis were calculated. RESULTS: Prenatal US was performed in 76% of the cases and AC/CVS in 14% of the cases. Prenatal diagnosis of a birth defect was made in 16% of the cases. The prenatal US, AC/CVS, and prenatal diagnosis rates in 1998-2002 were 1.5, 1.5, and 1.7 times the rates in 1986-1991, respectively. Among all birth defects, the AC/CVS rate for women aged <35 years was 7% and for women aged > or =35 years was 48%. Among chromosomal abnormalities, the AC/CVS rate for women aged <35 years was 36% and for women aged > or =35 years was 66%. CONCLUSIONS: Only a fraction of the Hawaii birth defects cases was prenatally diagnosed. The rates for prenatal US, AC/CVS, and prenatal diagnosis among pregnancies affected by birth defects were higher in 1998-2002 than in 1986-1991. AC/CVS rates were lower for maternal age <35 years.     

Impact of Monochorionicity and Twin to Twin Transfusion Syndrome on Prenatal Attachment,Post Traumatic Stress Disorder,Anxiety and Depressive Symptoms

Monochronioric (MC) twin pregnancies are considered as high-risk pregnancies with potential complications requiring in-utero interventions. We aimed to assess prenatal attachment, anxiety, post-traumatic stress disorder (PTSD) and depressive symptoms in MC pregnancies complicated with Twin-To-Twin-transfusion syndrome (TTTS) in comparison to uncomplicated monochorionic (UMC) and dichorionic pregnancies (DC). Auto-questionnaires were filled out at diagnosis of TTTS and at successive milestones. Prenatal attachment, PTSD, anxiety and perinatal depression were evaluated respectively by the Prenatal Attachment Inventory (PAI) completed for each twin, the Post-traumatic Checklist Scale (PCLS), the State-Trait Anxiety Inventory (STAI) and the Edinburgh Perinatal Depression Scale (EPDS). There was no significant difference in the PAI scores between the two twins. In the DC and UMC groups, PAI scores increased throughout pregnancy, whilst it didn’t for TTTS group. TTTS and DC had a similar prenatal attachment while MC mothers expressed a significantly higher attachment to their fetuses and expressed it earlier. At the announcement of TTTS, 72% of the patients present a score over the threshold at the EPDS Scale, with a higher score for TTTS than for DC (p = 0.005), and UMC (p = 0.007) at the same GA. 30% of mothers in TTTS group have PTSD during pregnancy. 50% of TTTS- patients present an anxiety score over the threshold (STAI-Scale), with a score significantly higher in TTTS than in UMC (p<0.001) or DC (p<0.001). The proportion of subject with a STAI–State over the threshold is also significantly higher in TTTS than in DC at 20 GW (p = 0.01) and at 26 GW (p<0.05). The STAI-state scores in UMC and DC increase progressively during pregnancy while they decrease significantly in TTTS. TTTS announcement constitutes a traumatic event during a pregnancy with an important risk of PTSD, high level of anxiety and an alteration of the prenatal attachment. These results should guide the psychological support provided to these patients.     

Somatic stability in chorionic villi samples and other Huntington fetal tissues

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.     

Prenatal diagnosis of chromosome abnormalities

Prenatal diagnosis of chromosome abnormalities can be performed on three different samples; chorion villi (CVS), amniotic fluid (AFS) and fetal blood (FBS). We are presenting data from our own experience on the chromosome analysis of 957 CVS, 1000 AFS and 927 FBS. A total of 69 chromosome abnormalities have been detected in the CVS, 38 in the AFS and 115 in the FBS. The type of abnormalities and their frequencies are compared between the three sampling methods. Our findings are in agreement with published data, and the higher incidence of chromosomal aberrations in the FBS group reflect the greater efficiency with which aneuploidies associated with more severe congenital malformation can be detected by ultrasound.Finally, we reported 18 cases of mosaicism in CVS, 76 in AFS and 31 in FBS. Of these cases, only 10 represented a true mosaicism of the fetus, 98 cases have been classified as pseudomosaicisms and 7 identified as maternal contamination. We have encountered 9 cases of mosaicism confined to the chorionic villi and 1 case limited to the amniotic fluid cells. There appeared to be a similarity between trisomies involved in chorion confined mosaicisms and pseudomosaicism cases of the AFS.The chromosome complement of the placenta may play an important role in the development of the pregnancy, and although a mosaic result in prenatal diagnosis could present difficulties in the prediction of the ffetal karyotype, it might give important information on the general condition of the fetus.     

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis.     

Distribution of mosaicism in human placentae

Traditional first trimester chorionic villus sampling (CVS) for prenatal diagnosis can be performed by cytogenetic analysis of cytotrophoblast or chorionic villous stroma. Approximately 2% of pregnancies studied by CVS show confined placental mosaicism (CPM) involving either cytotrophoblast, stroma or both. We present the results of a cytogenetic study of nine term placentae from pregnancies with prenatally diagnosed CPM. The aneuploid cell lines involved trisomies for chromosomes 7,9,16, and X. The cytotrophoblast and villous stroma from multiple biopsies of these placentae were examined using a combination of interphase and metaphase cytogenetic analysis. CPM was detected in all nine of the term placentae and both tissue-specific and site-specific patterns of mosaicism could be discerned. These results indicate that the analysis of villous stroma and cytotrophoblast from multiple placental biopsies is necessary to improve our understanding of the evolution of CPM during pregnancy and its effect on the fetus. Received: 1 May 1995 / Revised: 11 August 1995     

Inconsistencies in Quality of Life Data Collection in Clinical Trials: A Potential Source of Bias? Interviews with Research Nurses and Trialists

Background

Patient-reported outcomes (PROs), such as health-related quality of life (HRQL) are increasingly used to evaluate treatment effectiveness in clinical trials, are valued by patients, and may inform important decisions in the clinical setting. It is of concern, therefore, that preliminary evidence, gained from group discussions at UK-wide Medical Research Council (MRC) quality of life training days, suggests there are inconsistent standards of HRQL data collection in trials and appropriate training and education is often lacking. Our objective was to investigate these reports, to determine if they represented isolated experiences, or were indicative of a potentially wider problem.

Methods And Findings

We undertook a qualitative study, conducting 26 semi-structured interviews with research nurses, data managers, trial coordinators and research facilitators involved in the collection and entry of HRQL data in clinical trials, across one primary care NHS trust, two secondary care NHS trusts and two clinical trials units in the UK. We used conventional content analysis to analyze and interpret our data. Our study participants reported (1) inconsistent standards in HRQL measurement, both between, and within, trials, which appeared to risk the introduction of bias; (2), difficulties in dealing with HRQL data that raised concern for the well-being of the trial participant, which in some instances led to the delivery of non-protocol driven co-interventions, (3), a frequent lack of HRQL protocol content and appropriate training and education of trial staff, and (4) that HRQL data collection could be associated with emotional and/or ethical burden.

Conclusions

Our findings suggest there are inconsistencies in the standards of HRQL data collection in some trials resulting from a general lack of HRQL-specific protocol content, training and education. These inconsistencies could lead to biased HRQL trial results. Future research should aim to develop HRQL guidelines and training programmes aimed at supporting researchers to carry out high quality data collection.     

Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site

Summary A single base substitution is responsible for the PI-Z mutation in alpha-1-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restriction enzyme site was created in the exon-V-amplified DNA sequence; this site was present in the normal allele (M form) but absent in the Z form. Here, the design of the primer and the application of the designer primer for prenatal diagnosis of chorion villus samples (CVS) for AAT deficiency is described. The method provides a simple rapid means of prenatal diagnosis of AAT deficiency within a day of the collection of the CVS. The detection of the nucleotide base change in AAT deficiency at the Z mutation site provides the opportunity for accurate prenatal diagnosis where no tissue is available from an AAT-affected individual.     

Fetal mortality at the time of chorionic villi sampling

Summary To estimate the background fetal loss rates among women who might be candidates for chorionic villi sampling (CVS) for prenatal diagnosis, we examined the frequency of spontaneous abortion and of non-viable fetuses in two groups of women thought to be pregnant at 8–12 weeks' gestation. Among 1519 women over 35 years given an appointment for amniocentesis 1978–1981, 9.8% had a spontaneous abortion prior to 16 weeks' gestation. For those under observation before week 12, the loss rate by 16 weeks was 15.3%. Among all 190 candidates for elective termination of pregnancy between 6 and 12 weeks' gestation, 12.6% were found to have a non-viable fetus at the scheduled date of abortion. The frequency of non-viability was 14% among those seen before week 12. The data suggest that the background loss rate between the time of CVS and the time of amniocentesis is approximately 1–2% and is unlikely to be higher than 9%. Until randomized clinical trials of the procedure are completed we will not know how much, if at all, the loss rate associated with CVS is increased above this background. Nevertheless, knowledge of these background risk estimates may be useful in counseling women considering participating in trials of CVS.     

Effect of Prenatal Alcohol Exposure on Childhood Academic Outcomes: Contrasting Maternal and Paternal Associations in the ALSPAC Study

Background

The impact of low-to-moderate levels of alcohol consumption during pregnancy on child cognitive outcomes has been of recent concern. This study has tested the hypothesis that low-to-moderate maternal alcohol use in pregnancy is associated with lower school test scores at age 11 in the offspring via intrauterine mechanisms.

Methods

We used data from the Avon Longitudinal Study of Parents and Children (ALSPAC), a birth cohort study based in the South West of England. Analyses were conducted on 7062 participants who had complete data on: maternal and paternal patterns of alcohol use in the first trimester and at 18 weeks'' gestation, child''s academic outcomes measured at age 11, gender, maternal age, parity, marital status, ethnicity, household crowding, home ownership status and parental education. We contrasted the association of mother''s alcohol consumption during pregnancy with child''s National Curriculum Key Stage 2 (KS2) test scores with the association for father''s alcohol consumption (during the time the mother was pregnant) with child''s National Curriculum Key Stage 2 (KS2) test scores. We used multivariate linear regression to estimate mean differences and 95% confidence intervals [CI] in KS2 scores across the exposure categories and computed f statistics to compare maternal and paternal associations.

Findings and conclusions

Drinking up to 1 unit of alcohol a day during pregnancy was not associated with lower test scores. However, frequent prenatal consumption of 4 units (equivalent to 32 grams of alcohol) on each single drinking occasion was associated with reduced educational attainment [Mean change in offspring KS2 score was −0.68 (−1.03, −0.33) for maternal alcohol categories compared to 0.27 (0.07, 0.46) for paternal alcohol categories]. Frequent consumption of 4 units of alcohol during pregnancy may adversely affect childhood academic outcomes via intrauterine mechanisms.     

Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions. EVIDENCE: A MEDLINE search for relevant articles published from Jan. 1, 1966, to Mar. 31, 1994, with the use of MeSH terms "Down syndrome," "prenatal diagnosis," "screening," "prevention," "amniocentesis," "chorionic villus sampling," "ultrasonography," "anxiety," "depression" and "psychological stress" and a manual search of bibliographies, recent issues of key journals and Current Contents. VALUES: The evidence-based methods and values of the Canadian Task Force on the Periodic Health Examination were used. A high value was placed on providing pregnant women with the opportunity to determine whether they are carrying a fetus with DS and to make choices concerning the termination of the pregnancy. The economic issues involved are complex and were not considered. BENEFITS, HARMS AND COSTS: Triple-marker screening identifies an estimated 58% of fetuses with DS, but it has an estimated rate of true-positive results of 0.1% and of false-positive results of 3.7% (given a risk cut-off of one chance in 190 of DS). These rates vary with maternal age and the risk cut-off chosen. Women with a known risk of having a fetus with DS (e.g., those who have had a previous child with DS) may benefit from a reduction in anxiety after confirmation that their fetus does not have DS. Screening allows women at low risk of having a child with DS to detect fetuses with the syndrome, but may cause psychologic distress if there is a false-positive screening test result. Up to 20% of women with positive results of screening tests may decline to undergo a subsequent amniocentesis. Amniocentesis and CVS are very accurate in diagnosing DS in fetuses and have a very low rate of serious complications for the mother. Amniocentesis is associated with a 1.7% rate of fetal loss when it is performed after 16 weeks'' gestation, whereas the rate among controls is 0.7% (for a difference of 1%, 95% confidence interval 0.3% to 1.5%). CVS entails a greater risk of fetal loss than amniocentesis (odds ratio 1.32, 95% confidence interval 1.11 to 1.57). There is little evidence from controlled trials of significant associations between amniocentesis or CVS and neonatal morbidity or malformations; however, samples have been too small to show differences in rare outcomes. Results from some case-control studies suggest that CVS increases the risk of transverse limb deficiency. Costs were not considered because they are beyond the scope of this review. RECOMMENDATIONS: There is fair evidence to offer triple-marker screening through a comprehensive program to pregnant women under 35 years of age (grade B recommendation). Women given detailed information about serum-marker screening show more satisfaction with the screening than those not given this information. There is fair evidence to offer amniocentesis or CVS to pregnant women 35 years of age and older and to women with a history of a fetus with DS or of a chromosome 21 anomaly (grade B recommendation). Information on the limitations and advantages of each procedure should be offered. Triple-marker screening may be offered as an alternative to CVS or amniocentesis to pregnant women over 35. VALIDATION: Recommendations concerning prenatal diagnosis are similar to those of the US Preventive Services Task Force, the Society of Obstetricians and Gynaecologists of Canada, the Canadian College of Medical Geneticists and the Cochrane Pregnancy and Childbirth Group. No previous specific recommendations concerning triple-maker screening exist. SPONSORS: These guidelines were developed and endorsed by the Canadian Task Force on the Periodic Health Examination, which is funded by Health Canada and the National Health Research and Development Program.     

Adequate Prenatal Care Reduces the Risk of Adverse Pregnancy Outcomes in Women with History of Infertility: A Nationwide Population-Based Study

Objectives

To investigate the effects of various measures of prenatal care on adverse pregnancy outcomes in women with a history of infertility.

Study Design

A retrospective cohort study.

Methods

Data were derived by linking 2 large nationwide population-based datasets, the National Health Insurance Research Database and Taiwan Birth Certificate Registry. The study sample included 15,056 women with an infertility diagnosis and 60,224 randomly selected women without infertility matched to the study sample by maternal age. A conditional logistic regression analysis was performed for the analysis.

Results

Women diagnosed with infertility respectively had 1.39 (95% CI, 1.06~1.83), 1.15 (95% CI, 1.08~1.24), 1.13 (95% CI, 1.08~1.18), and 1.08 (95% CI, 1.05~1.12) higher odds of having very low birth weight (VLBW) babies, preterm births, labor complications, and cesarean sections (CSs) compared to women without infertility. Inadequate numbers of total and major prenatal visits and late initiation of prenatal care increased the risks of adverse pregnancy outcomes in women with infertility, especially the risk of a VLBW baby. However, no significant associations were found for the risks of adverse birth outcomes in infertile women with adequate prenatal care compared to fertile women with adequate care.

Conclusions

Study findings suggest that adequate prenatal care can reduce the risk of adverse pregnancy outcomes in women with infertility.     

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.     

Burden of allergic respiratory disease: a systematic review

This meta-analysis compared the health-related quality of life (HRQL) of patients with allergic rhinitis (AR) and/or allergic asthma (AA) caused by perennial house dust mite (HDM) versus AR and/or AA caused by seasonal pollen allergy. Following a systematic search, the identified studies used the disease-specific rhinitis quality of life questionnaire or generic instruments (SF-36 and SF-12). Summary estimates obtained by meta-analysis showed that HRQL in patients with perennial HDM allergy was significantly worse than that of patients with seasonal pollen allergy, when measured by both disease-specific and generic HRQL instruments, and was reflected by an impact on both physical and mental health. A systematic review of cost data on AR and AA in selected European countries demonstrated that the majority of the economic burden was indirectly caused by high levels of absenteeism and presenteeism; there was little or no evidence of increasing or decreasing cost trends. Increased awareness of the detrimental effects of AR and/or AA on patients’ HRQL and its considerable cost burden might encourage early diagnosis and treatment, in order to minimize the disease burden and ensure beneficial and cost-effective outcomes.     

Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.

The accuracy of DNA-based prenatal diagnosis of Duchenne muscular dystrophy (DMD) was determined by study of 174 families. Only 60% of families had a living affected male, and 63% had history of a single affected male. Prenatal diagnosis was declined by 47% of mothers whose DNA studies predicted a carrier risk below 2%, and none have had affected sons. Fetal risk was estimated prospectively by linkage analysis using intragenic and flanking RFLPs and retrospectively using dystrophin cDNA analysis for families whose linkage estimates lacked precision. Diagnostic accuracy was determined by comparing predictions with 40 male pregnancy outcomes. On the basis of linkage analysis, we anticipated 3.2 DMD males and observed 3.0. Retrospective cDNA analysis identified deletions in 2 of these 3 males. The combined use of linkage and cDNA deletion analysis provided a highly accurate method for prenatal diagnosis of DMD.     

妊娠相关脑卒中39 例临床分析

目的:探讨妊娠相关脑卒中的发病原因、临床表现、母婴结局、治疗及预防措施。方法:回顾性分析2001年1月-2013年12月我院共收治的妊娠相关脑卒中39例患者的临床资料。结果:39例患者中,发生在妊娠期21例,产褥期18例。经电子计算机断层扫描(CT)、磁共振成像(MRI)、磁共振动脉血管造影(MRA)、磁共振脑静脉血管成像(MRV)、数字减影血管造影术(DSA)和腰椎穿刺等检查明确诊断,诊断出血性脑卒中7例,脑梗死3例,脑静脉窦血栓(CVST)29例,均给予相应的抢救及治疗。16例早期、中期妊娠患者行人工流产术或利凡诺羊膜腔内注射穿刺引产终止妊娠,5例患者行剖宫产终止妊娠。患者治愈出院15例,6例死亡,14例遗留不同程度的肢体活动障碍或语言障碍,家属放弃治疗出院4例。结论:妊娠相关脑卒中危险因素主要包括子痫前期、心源性栓塞、脑血管畸形、脑动脉瘤、水电解质紊乱等代谢障碍性疾病及产褥感染等。其发病急、病死率高,故需提高对本病的认识,定期产前检查,及时发现高危因素,早诊断及时治疗,选择适当的时机及方式终止妊娠是改善妊娠相关脑卒中患者预后的关键。     

Prenatal hemoglobinopathy screening. IV. Follow-up of women at risk for a child with a clinically significant hemoglobinopathy.

To determine the benefits and burdens of prenatal hemoglobinopathy carrier identification and genetic counseling and its impact on subsequent reproductive behavior, we recontacted women whom we had previously identified as at risk for having a child with a clinically significant hemoglobinopathy, regardless of whether they had accepted the offer of prenatal diagnosis. Of the 46 such women, 31 were available for interview. These 31 women had received offers of prenatal diagnosis in 47 pregnancies. Seventeen had been accepted, and 30 had been declined. The proportion of patients accepting the offer of prenatal diagnosis was higher for the index pregnancy (50%) than for subsequent pregnancies (22%). The mean interval between the initial counseling of the patient and the follow-up interview was 43 mo (standard error +/- 2.7 mo). Ninety-four percent of those interviewed recalled having received information from the screening program; 74% recalled the name of their condition; 90% knew that trait did not affect their health; 84% recalled the name of the condition for which their fetus had been at risk; and 77% could state at least one symptom of the disease. Of the 29 women asked whether they intended to use prenatal diagnosis in future pregnancies, 13 said yes and 16 said no. Of the 26 patients asked about satisfaction with their previous decision about prenatal diagnosis, all were satisfied with their decision. Eighteen said they would make the same decision in their next pregnancy, but seven patients said they would not, and one was undecided.(ABSTRACT TRUNCATED AT 250 WORDS)     

Evaluation of 100 autopsies performed in the maternity service of the H?tel-Dieu in Lyon during an 18 month period

100 Necropsies have been performed from January 1983 to June 1984, on 53 abortus and stillborn and 47 therapeutic terminations of pregnancy. All fetuses came from the same obstetric unit. Half spontaneous fetal deaths remained of unknown aetiology; in 18 cases (34%) placental, maternal or pregnancy pathology existed; fetal abnormalities were discovered in 10 (18%). As for therapeutic interruptions of pregnancy (the indications of which are detailed) the importance of ultrasonography emphasized since this technique allowed 25 of the 47 prenatal diagnosis. The importance of necropsy to help precise diagnosis and subsequent counselling is also recalled.     

Cystic fibrosis carrier population screening in the primary care setting.

To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of 124 prenatal care providers, only 37 elected to participate, but many of these offered screening only to pregnant women. The acceptance rate among pregnant women was approximately 57%. The most common reasons for accepting screening were to obtain reassurance (50.7%) and to avoid having a child with CF (27.8 %). The most common reasons for declining screening were not intending to terminate a pregnancy for CF (32.4%) and believing that the chance of having a CF child was very low (32.2%). Compared with decliners, acceptors were more likely to have no children, regarded having a child with CF as more serious, believed themselves more susceptible to having such a child, knew more about CF, would be more likely to terminate a pregnancy if the fetus were shown to have CF, and more strongly supported offering CF screening to women of reproductive age. Of 4,879 women on whom results were obtained, 124 were found to be carriers. Of these 124 carriers, the partners of 106 were tested. Of the five at-risk couples, four requested prenatal diagnosis and one requested neonatal diagnosis. No woman found to be a carrier whose partner tested negative requested prenatal diagnosis. Except for the imperfect knowledge of those testing negative, none of the adverse outcomes predicted for CF carrier testing in the general population were observed in this study.