Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe.

The objective of this study was to evaluate the prenatal detection of chromosomal abnormalities by fetal ultrasonographic examination in a large database provided by 19 Registries of Congenital Anomalies from 11 European countries. This study included 1738 cases of chromosomal abnormalities, liveborn, stillborn or termination of pregnancy regardless of maternal age from a population of 664,340 births during the period 1996 - 1998. The most frequent chromosomal anomalies were Down syndrome (n=1050), trisomy 18 (n=191), Turner syndrome (n=125), trisomy 13 (n=86), and triploidy (n=56). Fetal ultrasonographic examination resulted in the prenatal detection of 37.7% of the chromosomal abnormalities, thereby resulting in a reduction of 28.6% in their prevalence at birth due to terminations of pregnancy. The detection rate by ultrasound examination varied according to local policies of prenatal diagnosis : it was lower in countries where routine scan were not performed and higher in countries in which at least one routine anomaly scan during the second trimester of pregnancy was performed. The ultrasound detection varied according to the specific chromosomal anomaly and was lowest for Klinefelter syndrome (5.7%) and highest for triploidy (78.6%). For Down syndrome it was 26.4%. Termination of pregnancy was performed in 75.9% of the cases. Among the 655 cases detected by ultrasound, the most frequent ultrasound signs by category of chromosomal abnormalities were analysed. This study shows that ultrasound screening is an important tool in the prenatal detection of chromosomal abnormalities in Europe, leading to a significant reduction in the prevalence of livebirth children with chromosomal anomalies.     

Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population.

OBJECTIVE--To review the efficacy of routine prenatal ultrasonography for detecting fetal structural abnormalities. DESIGN--Retrospective study of the ultrasonographic findings and outcome of all pregnancies in women scanned in 1988-9. SETTING--Maternity ultrasonography department of a district general hospital. SUBJECTS--8785 fetuses. MAIN OUTCOME MEASURES--Correlation of prenatal ultrasonographic findings with outcome in the neonate. RESULTS--8733 babies were born during 1988-9, and 52 pregnancies were terminated after a fetal malformation was identified. 8432 (95%) of the fetuses were examined by ultrasonography in the second trimester. 130 fetuses (1.5%) were found to have an abnormality at birth or after termination of pregnancy, 125 of which had been examined in the second trimester. In 93 cases the abnormality was detected before 24 weeks (sensitivity 74.4%, 95% confidence interval to 66.7% to 82.1%. Two false positive diagnoses occurred, in both cases the pregnancies were not terminated and apparently normal infants were born. This gives a specificity of 99.98% (99.9% to 99.99%). The positive predictive value of ultrasonography in the second trimester was 97.9% (92.6% to 99.7%). Of the 125 abnormalities, 87 were lethal or severely disabling; 72 of the 87 were detected by the routine screening programme (sensitivity 82.8%, 73.2% to 90.0%). CONCLUSION--Routine fetal examination by ultrasonography in a low risk population detects many fetal structural abnormalities but can present several dilemmas in counselling.     

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination

The objectives of this study were to evaluate routine prenatal diagnosis of congenital heart diseases (CHD) by fetal ultrasound examination in a well-defined population during the period 1994-1999 and to compare these results with the results from 1979 to 1993. This study included 80,076 consecutive pregnancies of known outcome from 1994 to 1999. CHD were classified as isolated or associated when at least one other major extra-cardiac malformation was present. Only 137 out of 688 malformed fetuses with CHD without chromosomal anomalies were detected (19.9%). The sensitivity of detection varied from 61.9% for malformations such as isolated hypoplastic left heart and single ventricle, to around 7-19% for atrial and ventricular septal defects. Prenatal detection rate of CHD was 11.4% for isolated cases, and 40.2% for multiple malformed with CHD. The gestational age at discovery varied from 16 to 36 weeks. There is no upper limit for termination of pregnancies in our country; 12.3% of all pregnancies were terminated after prenatal diagnosis. However, 62% of the pregnancies with a CHD detected prenatally were terminated. The detection rate of CHD increased during time from 9.2% during the period 1979-1988 to 13.7% during the period 1990-1993 and to 19.1% during the period 1994-1999. Our study shows large variation in the prenatal detection rate of CHD. Prenatal diagnosis of CHD is significantly higher when associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999.     

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women 38 years) with no personal or familial history of chromosomal anomaly was performed in 119 099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomie 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.     

孕14-19+6周正常胎儿胼周动脉的超声评估

摘要 目的：探讨应用超声SlowflowHD（超低速血流成像）联合RadiantFlow（二维立体血流成像）技术评估孕14-19⁺⁶周正常胎儿胼周动脉的可行性，观察胎儿胼周动脉及分支走行，测量其长度和高度，并探讨二者与孕周及双顶径的关系。方法：纳入2022年5月-2023年3月来南京医科大学附属苏州医院进行常规超声检查的150例孕14-19⁺⁶周孕妇，在胎儿正中矢状切面上获取胎儿胼周动脉及分支的图像，测量其长度和高度，测量重复3次，取平均值，并观察胎儿胼周动脉及分支走行。所有孕妇均随访至中孕晚期（20-28周）或晚孕期行产前超声检查未见胼胝体异常及其他颅内结构异常。采用pearson相关分析和回归分析判断胎儿胼周动脉长度及高度与孕周及双顶径的关系。结果：胎儿胼周动脉长度及高度随着孕周及双顶径的增加而增加（P＜0.05）。胎儿胼周动脉长度与孕周、双顶径之间呈线性正相关，且胎儿胼周动高度与孕周、双顶径之间呈线性正相关（P＜0.05）。在孕14-19⁺⁶周中所有111病例均类"C"形走行，额前内侧动脉、额中内侧动脉、额后内侧动脉三者几乎与胎儿胼周动脉垂直，类"鸡冠"，三者显示率100%；旁中央动脉在孕14-15⁺⁶周、16-17⁺⁶周、18-19⁺⁶周显示率分别约53.1%（17/32）、88.2%（45/51）、92.8%（26/28）；楔前动脉在孕14-15⁺⁶周、16-17⁺⁶周、18-19⁺⁶周显示率分别约3.1%（1/32）、35.2%（18/51）、78.5%（22/28）。结论：应用超声SlowflowHD（超低速血流成像）联合RadiantFlow（二维立体血流成像）技术显示孕14-19⁺⁶周正常胎儿胼周动脉及分支具有可行性，胎儿胼周动脉长度和高度与孕周及双顶径呈一定的线性相关。     

小波阈值降噪的超声多普勒技术在胎儿中枢神经系统畸形筛查中的临床应用价值

摘要 目的：探究小波阈值降噪的超声多普勒技术在胎儿中枢神经系统（CNS）畸形筛查中的临床应用价值。方法：选择2018年1月-2021年1月于本院进行规范化妊娠早期超声结构筛查的1092例11-13+6周单胎妊娠孕妇,所有孕妇均进行常规超声和小波阈值降噪的超声多普勒技术的检查,并对其妊娠过程和结果进行随访。结果：1092例胎儿产后病理或超声检查显示,胎儿CNS畸形共计19例,发生率为1.74％（19/1092）。其中,露脑畸形8例,无脑畸形5例,前脑无裂畸形3例,脑膜膨出2例,脊柱裂1例。基于小波阈值降噪的超声多普勒技术对胎儿CNS畸形检出的符合率94.74%（18/19）显著高于常规超声63.16%（12/19）,差异有统计学意义（P<0.05）;且基于小波阈值降噪的超声多普勒技术检出胎儿CNS畸形的准确性、敏感度、特异度、阳性预测值、阴性预测值均显著高于常规超声,差异均均有统计学意义（P<0.05）。结论：小波阈值降噪的超声多普勒技术对妊娠早期孕妇进行规范化结构筛查更有助于及早发现胎儿CNS畸形,对降低畸形胎儿的出生率以及指导临床治疗方案的选择具有重要指导意义。     

Antenatal ultrasonography to detect fetal renal abnormalities: a prospective screening programme.

OBJECTIVE--To evaluate screening for abnormalities of the fetal renal tract by ultrasonography and to determine the incidence of such abnormalities in a population. DESIGN--A 12 month prospective population study. Follow up of infants to between 9 and 18 months. SETTING--A district general hospital. PARTICIPANTS--6292 Pregnant women reaching 28 weeks'' gestation within the study period. INTERVENTIONS--Antenatal ultrasound scanning was offered to all of the women. Babies in whom an abnormality of the renal tract had been detected antenatally underwent ultrasound scanning at the end of the first week. If the abnormality was confirmed contrast radiography was performed. END POINT--Confirmation of suspected renal abnormality by postnatal investigations. Detection of abnormality in children thought to be normal antenatally. MEASUREMENTS AND MAIN RESULTS--Of the 92 babies who had abnormal antenatal scans, 42 had abnormalities confirmed postnatally. Four of them died and 21 had had or were awaiting an operation at 18 months'' follow up. Seven children had renal abnormalities that were missed antenatally. The incidence of abnormalities detected by screening antenatally was 0.65%, and the overall incidence at 18 months'' follow up was 0.76%. CONCLUSIONS--The incidence of structural renal abnormalities in babies is higher than reported previously. Antenatal ultrasonography is an effective way of detecting such abnormalities.     

超声联合染色体检测对胎儿心血管畸形的诊断价值

摘要 目的：探讨超声联合染色体检测对胎儿心血管畸形的诊断价值。方法：2017年6月到2020年12月选择在本院诊治的高危孕妇117例作为研究对象,所有孕妇都给予胎儿心脏超声检查与羊膜穿刺染色体检查,判断胎儿心血管畸形情况。结果：在117例孕妇中,胎儿心脏超声检出胎儿心血管畸形37例,占比31.6%,前三位主要为室间隔缺损、左上腔静脉、右锁骨下动脉。羊膜腔穿刺术检出32例染色体异常胎儿,占比27.4%,其中染色体数目异常30例,染色体结构异常2例,前三位分别为21-三体、13-三体与18-三体。超声检查胎儿心血管畸形37例中,染色体异常30例;超声检查胎儿心血管正常80例中,染色体异常2例,对比差异有统计学 意义(P<0.05)。联合诊断为胎儿心血管畸形39例,随访后确诊为胎儿心血管畸形40例,超声联合染色体检测对胎儿心血管畸形的敏感性与特异性为100.0%(39/39)和98.7%(77/78)。结论：胎儿心脏超声联合染色体检测对胎儿心血管畸形的诊断具有很高敏感性与特异性,可尽最大可能提高出生缺陷儿的检出率,有很好的应用价值。     

死胎的病因及终止妊娠的方式分析

目的：探讨死胎的病因及终止妊娠的方式。方法：收集我院住院分娩的死胎病例23 例,对孕妇一般资料、死胎发生原因、终 止妊娠方式进行统计分析。结果：①死胎发生孕妇中,年龄＞36 岁者最多,共8 例,占34.8%,孕周在28-36+6 周的孕妇数最多,共 10 例,占43.5%,初产妇17 例,占73.9%,有流产史孕妇9 例,占39.1%;②在所有病因中,脐带因素占比最大,共11 例,占47.8%, 其次为胎盘因素和母体因素,各5 例,各占21.7%,胎儿原因与不明原因各2 例,各占8.7%;③在对终止妊娠方式的选择上,施行 羊膜腔穿刺引产例数最多,共13 例,占56.5%,其次为剖宫产,共5 例,占21.7%,米索流产3 例,占13.0%,自娩患者2 例,占 8.7%。结论：脐带因素为造成死胎发生的主要原因,其次为胎盘因素及母体因素,应对孕妇进行全面的孕期检查及孕期健康教育, 以减少死胎的发生,并选择合适的终止妊娠方式以减轻孕妇痛苦。     

Effects of legal termination on subsequent pregnancy.

Two hundred and eleven patients who had undergone vaginal termination and were pregnant again were investigated; 43-2% had become pregnant within one year of termination. The overall fetal loss in the 211 patients was 17-5% compared with 7-5% in a group matched for parity but consisting of patients who were pregnant after a spontaneous abortion. Altogether 4-3% of pregnancies after legal abortion ended as first trimester abortions, 8-5% as second trimester abortions, and 13-7% in premature delivery. Among 11 women whose cervices had been lacerated at the time of legal termination the fetal loss in subsequent pregnancy was 45-5%, and only one pregnancy went beyond 36 weeks. Routine Shirodkar suture may be beneficial when the cervix is known to have been damaged at legal abortion. Several patients had asked that their general practitioner should not be told of their termination, and such patients may not admit their termination during a subsequent pregnancy, which could thus be jeopardised. No evidence was found to suggest that infants of patients with a history of legal termination are small for dates.     

超声心动图检测胎儿心包积液的临床价值

目的：探讨超声心动图检测胎儿心包积液的临床意义。方法：2007-2010年在我院检查行超声心动图检查的高危孕妇473例,同时设对照组,检测孕龄在20-40周无明显高危妊娠因素的孕妇472例,并将产前超声检查结果和胎儿尸检或分娩后超声心动图检查结果进行对照。结果：1.高危组检出72例心包积液,检出率12.5%,对照组检出13例心包积液,检出率3%,两组胎儿心包积液检出率间差别有统计学意义（x2=39.57,P〈0.05）。2.85例心包积液中,孤立性心包积液38例,伴其他心脏畸形或者其他系统畸形47例,其中孤立性心包积液预后良好。结论：超声心动图能够敏感地检出胎儿心包积液;心包积液程度并不是最重要的,其伴随心脏畸形或者其他畸形决定预后。     

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on our 18-year experience to document comprehensive CFTR genotypes and correlations with ultrasound patterns in a series of 694 cases of fetal bowel anomalies. CFTR gene analysis was performed in a multistep process, including search for frequent mutations in the parents and subsequent in-depth search for rare mutations, depending on the context. Ultrasound patterns were correlated with the genotypes. Cases were distinguished according to whether they had been referred directly to our laboratory or after an initial testing in another laboratory. A total of 30 CF fetuses and 8 cases compatible with CFTR-related disorders were identified. CFTR rearrangements were found in 5/30 CF fetuses. 21.2% of fetuses carrying a frequent mutation had a second rare mutation, indicative of CF. The frequency of CF among fetuses with no frequent mutation was 0.43%. Correlation with ultrasound patterns revealed a significant frequency of multiple bowel anomalies in CF fetuses. The results emphasize the need to search for rearrangements in the diagnosis strategy of fetal bowel anomalies. The diagnostic value of ultrasound patterns combining hyperechogenic bowel, loop dilatation and/or non-visualized gallbladder reveals a need to revise current strategies and to offer extensive CFTR gene testing when the triad is diagnosed, even when no frequent mutation is found in the first-step analysis.     

Transabdominal chorionic villus biopsy in second and third trimesters of pregnancy to determine fetal karyotype.

Transabdominal chorionic villus biopsy is an established method of obtaining material for analysing fetal chromosomes in the first trimester of pregnancy but has not been widely used for karyotyping in the second and third trimesters, when rapid results are required. The technique was evaluated in two groups of patients, comprising 106 at risk of having a fetus with chromosomal anomalies (105) or X linked disease (one) studied between 13 and 22 weeks (median 15 weeks) of gestation (group 1) and 21 with abnormal fetal findings on ultrasonography studied between 13 and 38 weeks (median 27 weeks) (group 2). Chorionic tissue was collected at the first attempt in 109 patients and at the second attempt in a further 17 independent of the position of the placenta. In one case from group 1 sufficient material for analysis could not be obtained. Seven abnormal karyotypes (six in group 1 and one in group 2) were diagnosed. Karyotyping was unsuccessful in two cases in group 1 (at 17 and 18 weeks'' gestation) and in two in group 2 (at 29 and 38 weeks'' gestation). Follow up of group 1 four weeks after sampling showed no signs of adverse fetal development apart from one unexplained intrauterine fetal death. The findings suggest that chorionic sampling is a safe and valuable additional technique for the late detection of chromosomal defects.     

Preregistration house officers in general practice.

OBJECTIVES--To obtain from house officers who had rotated through general practice in their pre-registration year their views about their experience; and, separately, to compare the overall hours and type of work performed by hospital based and general practice based house officers. DESIGN--Postal questionnaire; and self recording of working hours and duties during four consecutive weeks. SETTING--Inner London teaching hospital and nearby general practice. PARTICIPANTS--28 preregistration house officers in general practice, 1981-91; and 12 preregistration house officers, four each in medicine, surgery, and general practice. RESULTS--26 out of 28 questionnaires were returned (response rate 93%). Twelve respondents were following or thinking of following a career in general practice. Twenty five respondents were satisfied with the clinical and educational aspects of the general practice rotation and would recommend the rotation, and 25 thought four months was about the right length of time in general practice. With regard to hours and type of work performed, hospital based house officers worked on average 55.5 hours a week (excluding on call), with an average of 12.5 hours (22.5%) spent in clinical activities; general practice based house officers worked about 41 hours a week, of which 24 hours (58%) were in clinical activities. House officers in hospital received less than one hour''s specific teaching a week; those in general practice received nearly three hours'' a week. CONCLUSIONS--A preregistration rotation in general practice is a popular alternative to the hospital based rotation. Although this is a limited study, other medical schools should consider introducing general practice options for preregistration house officers.     

Audit of compliance with antenatal protocols.

OBJECTIVE--To assess the implementation of action protocols dictated by antenatal risk factors noted at the initial (booking) antenatal visit. DESIGN--Retrospective study of 2000 women delivered between 1 March 1990 and 29 March 1991. SETTING--Maternity department of a district general hospital supporting a multiethnic population in inner London. MAIN OUTCOME MEASURES--Comparison of clinical actions performed against those dictated by the department''s protocols. Analysis according to clinical importance, gestation at booking, maternal age, parity, birth order, ethnic origin, and certainty of gestational age. RESULTS--Interobserver agreement between the two auditors was good (kappa statistic for risk factors detected, 0.78; for actions generated, 0.80). Of the 15,658 actions dictated by department protocols, 3673 (23.5%) were actually performed by the clinicians. The 63 combinations of risk factors and actions believed by consultants to be of particular clinical importance had an action rate of 28.3% compared with 18.6% for those considered less important (p < 0.001). Mothers who first visited the hospital antenatal clinic at or before 24 weeks'' gestation had 25.2% of relevant protocols fulfilled (p < 0.001). Compliance was significantly improved in women aged 36 or over (32.4%), black women (24.9%), and cases of uncertain gestation (24.5%). Parity and birth order were not associated with an altered action rate. Ethnic origin deemed as "other" (than white, black, Asian, or oriental) or "unknown" was associated with poor compliance (19.3%). CONCLUSIONS--Compliance to a set of agreed protocols was poor even though a computer system was available and a protocol manual had been distributed. Protocols were more likely to be implemented in women who booked early and in some groups of women deemed at high risk including older mothers, black women, and those denoted as having uncertain gestational age.     

超声心动图检测胎儿心包积液的临床价值

目的:探讨超声心动图检测胎儿心包积液的临床意义。方法:2007-2010年在我院检查行超声心动图检查的高危孕妇473例,同时设对照组,检测孕龄在20-40周无明显高危妊娠因素的孕妇472例,并将产前超声检查结果和胎儿尸检或分娩后超声心动图检查结果进行对照。结果:1.高危组检出72例心包积液,检出率12.5%,对照组检出13例心包积液,检出率3%,两组胎儿心包积液检出率间差别有统计学意义(x2=39.57,P<0.05)。2.85例心包积液中,孤立性心包积液38例,伴其他心脏畸形或者其他系统畸形47例,其中孤立性心包积液预后良好。结论:超声心动图能够敏感地检出胎儿心包积液;心包积液程度并不是最重要的,其伴随心脏畸形或者其他畸形决定预后。     

Cost effectiveness of treating primary care patients in accident and emergency: a comparison between general practitioners,senior house officers,and registrars.

OBJECTIVES--To compare outcome and costs of general practitioners, senior house officers, and registrars treating patients who attended accident and emergency department with problems assessed at triage as being of primary care type. DESIGN--Prospective intervention study which was later costed. SETTING--Inner city accident and emergency department in south east London. SUBJECTS--4641 patients presenting with primary care problems: 1702 were seen by general practitioners, 2382 by senior house officers, and 557 by registrars. MAIN OUTCOME MEASURES--Satisfaction and outcome assessed in subsample of 565 patients 7-10 days after hospital attendance and aggregate costs of hospital care provided. RESULTS--Most patients expressed high levels of satisfaction with clinical assessment (430/562 (77%)), treatment (418/557 (75%)), and consulting doctor''s manner (434/492 (88%)). Patients'' reported outcome and use of general practice in 7-10 days after attendance were similar: 206/241 (85%), 224/263 (85%), and 52/59 (88%) of those seen by general practitioners, senior house officers, and registrars respectively were fully recovered or improving (chi2 = 0.35, P = 0.840), while 48/240 (20%), 48/268 (18%), and 12/57 (21%) respectively consulted a general practitioner or practice nurse (chi2 = 0.51, P = 0.774). Excluding costs of admissions, the average costs per case were 19.30 pounds, 17.97 pounds, and 11.70 pounds for senior house officers, registrars, and general practitioners respectively. With cost of admissions included, these costs were 58.25 pounds, 44.68 pounds, and 32.30 pounds respectively. CONCLUSION--Management of patients with primary care needs in accident and emergency department by general practitioners reduced costs with no apparent detrimental effect on outcome. These results support new role for general practitioners.     

Prenatal diagnosis of genetic disease in Canada: report of a collaborative study.

A study of 1223 amniocenteses carried out during 1020 pregnancies in 990 women showed that 2nd-trimester amniocentesis at about 16 weeks'' gestation is a safe, accurate and reliable procedure for the diagnosis of certain classes of genetic disease when it is monitored by ultrasound, performed by a trained obstetrician and carried out in a major health sciences centre. The percentage of fetal losses (4.7%) and neonatal deaths (0.5%) during the study was not greater than in control samples for women 35 years of age and older. The best results were obtained when needles of gauge 20 or 21 were used. The use of needles of gauge 19 or larger and more than two insertions during a single amniocentesis were associated with a significantly greater frequency of fetal loss than a second or even a third amniocentesis during the same pregnancy. For 39 fetuses (3.8%) a diagnosis of a genetic abnormality was made and 23 male fetuses were found to be potentially hemizygous for an X-linked gene. There were 51 therapeutic abortions as a result of the diagnosis. Sixty-six tests (5.4%) gave an inconclusive result and seven (0.6%) gave an erroneous diagnosis; five of the latter (two false-positives and three false-negatives) resulted from the alpha1-fetoprotein test for neural-tube defects and in two cases the sex was incorrectly determined. The frequency of all chromosome abnormalities was 1:20 when the mother''s age was 40 years or more and 1:60 when the mother''s age was between 35 and 39 years. When a mother had previously had a child with a chromosome abnormality the risk of recurrence of such an abnormality was 1:100 when the age of the mother was 35 years or more.     

Randomised controlled trial of intrapartum fetal heart rate monitoring.

OBJECTIVE--To compare effectiveness of different methods of monitoring intrapartum fetal heart rate. DESIGN--Prospective randomised controlled trial. SETTING--Referral maternity hospital, Harare, Zimbabwe. SUBJECTS--1255 women who were 37 weeks or more pregnant with singleton cephalic presentation and normal fetal heart rate before entry into study. INTERVENTIONS--Intermittent monitoring of fetal heart rate by electronic monitoring, Doppler ultrasound, use of Pinard stethoscope by a research midwife, or routine use of Pinard stethoscope by attending midwife. MAIN OUTCOME MEASURES--Abnormal fetal heart rate patterns, need for operative delivery for fetal distress, neonatal mortality, Apgar scores, admission to neonatal unit, neonatal seizures, and hypoxic ischaemic encephalopathy. RESULTS--Abnormalities in fetal heart rate were detected in 54% (172/318) of the electronic monitoring group, 32% (100/312) of the ultrasonography group, 15% (47/310) of the Pinard stethoscope group, and 9% (28/315) of the routine monitoring group. Caesarean sections were performed for 28% (89%), 24% (76), 10% (32), and 15% (46) of the four groups respectively. Neonatal outcome was best in the ultrasonography group: hypoxic ischaemic encephalopathy occurred in two, one, seven, and 10 cases in the four groups respectively; neonatal seizures occurred only in the last two groups (six and nine cases respectively); and deaths occurred in eight, two, five, and nine cases respectively. CONCLUSIONS--Abnormalities in fetal heart rate were more reliably detected by Doppler ultrasonography than with Pinard stethoscope, and its use resulted in good perinatal outcome. The use of relatively cheap ultrasound monitors should be further evaluated and promoted in obstetric units caring for high risk pregnancies in developing countries with scarce resources.     

Fetal methotrexate and misoprostol exposure: the past revisited

BACKGROUND: Fetal aminopterin/methotrexate syndrome was described nearly 50 years ago when these agents were first used as abortifacients. Physicians essentially stopped using these agents when the associated anomalies were recognized. Over the last several years the use of methotrexate with or without misoprostol for management of ectopic pregnancy and medical terminations of pregnancy has increased. METHODS: A 23-year-old female sought a termination at eight weeks gestation. She was given methotrexate followed by misoprostol. RESULTS: The medical termination was unsuccessful. The patient elected to continue the pregnancy secondary to financial considerations. She presented at 39 weeks without intervening prenatal care. She was diagnosed with severe preeclampsia. At delivery the infant was hypotonic and growth restricted with multiple anomalies. CONCLUSIONS: Physicians are increasingly using methotrexate with or without misoprostol for treatment of ectopic pregnancies and medical terminations. Clinicians need to be aware of the characteristic teratologic effects of these two agents.