Prenatal diagnosis of thalassemia major by fetal blood analysis: Experience with 1000 cases

In this report we have summarized our experience with the prenatal diagnosis of β-thalassemia in 1000 pregnancies followed at least until 12 months after birth. In the majority of these cases, the thalassemia lesion was the nonsense mutation at the codon corresponding to amino acid 39, which produces the hematological phenotype of β-thalassemia. Fetal blood sampling was carried out by placental aspiration, by which a sufficient amount of fetal blood for analysis was obtained in the majority of cases (99 per cent). The fetal mortality associated with fetal blood sampling was 6·3 per cent. Those placental samples contaminated by maternal cells were successfully purified by Ørskov lysis. Fetal blood was analysed by globin chain synthesis on CM–52 columns, which gave reliable results. Two misdiagnoses (0·2 per cent) have been made of which one was due to a non-globin protein co-migrating with the β-chains while the other resulted from a misclassification of the type of thalassemia segregating in the family.     

Decision Making in a Human Population Living Sustainably

Abstract: The Tiwi people of northern Australia have managed natural resources continuously for 6000–8000 years. Tiwi management objectives and outcomes may reflect how they gather information about the environment. We qualitatively analyzed Tiwi documents and management techniques to examine the relation between the social and physical environment of decision makers and their decision‐making strategies. We hypothesized that principles of bounded rationality, namely, the use of efficient rules to navigate complex decision problems, explain how Tiwi managers use simple decision strategies (i.e., heuristics) to make robust decisions. Tiwi natural resource managers reduced complexity in decision making through a process that gathers incomplete and uncertain information to quickly guide decisions toward effective outcomes. They used management feedback to validate decisions through an information loop that resulted in long‐term sustainability of environmental use. We examined the Tiwi decision‐making processes relative to management of barramundi (Lates calcarifer) fisheries and contrasted their management with the state government's management of barramundi. Decisions that enhanced the status of individual people and their attainment of aspiration levels resulted in reliable resource availability for Tiwi consumers. Different decision processes adopted by the state for management of barramundi may not secure similarly sustainable outcomes.     

Transabdominal chorionic villus sampling. Clinical experience of 1159 cases

The efficacy and risks of transabdominal free-hand ultrasound-guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.     

Randomized trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis

A total of 800 patients were randomized at the 9th to 11th week of pregnancy either for transcervical chorionic villus sampling (CVS) on the day of trial entry or for amniocentesis (AC) at the 16th week. The indication for fetal karyotyping was maternal age in 94 per cent of the cases; the mean maternal age was 39.2 years. An adequate sample was obtained in 98.3 per cent of the cases in the CVS group and in all cases in the AC group. Retesting was indicated in 3.3 per cent of the CVS cases. An abnormal karyotype was found in 6.1 per cent of the CV samples and in 4.5 per cent of the amniotic fluid samples. There was one false-positive chromosome result in both groups. Twelve (3.1 per cent) miscarriages occurred by the 22nd week of pregnancy in the CVS group in pregnancies intended to continue. No difference was seen between the groups for total fetal loss rates. The number of surviving infants in the CVS group was 92.2 per cent and in the AC group 91.7 per cent (rate difference 0.5 per cent (95 per cent confidence interval − 3.3 to 4.3)). In our study, both the diagnostic accuracy and the risk of fetal loss were equal in the CVS and AC groups.     

吸气式管道尺寸及温差对烟颗粒输运的影响

在火灾标准燃烧室中,用扫描电迁移粒谱仪测量单孔采样的吸气管道内5种标准试验火烟雾颗粒浓度和粒径分布的变化,分析管道输运中管道参数对烟颗粒数目浓度损耗和中位径的影响.结果表明,在管道输运中,平均粒径相对较小的热解和阴燃烟雾颗粒.其小于0.1μm的超细颗粒部分的浓度损耗随管道长度的增加而增大,且烟颗粒平均粒径随管道增长而增大.而明火烟雾在管道输运中,由于管道与高温烟雾的温差增大,导致0.1～1 μm颗粒的管壁沉积损耗增大,使烟颗粒数浓度下降,中位径减小了几个纳米.火灾早期,火灾阴燃和热解期间小于0.1 μm的烟颗粒数目浓度占15%以上,因此,用较短的管道或者管道分级预警的方式可以减少滞留时间,提高极早期感烟探测的灵敏度.     

Prenatal sonographic detection of intra-abdominal extralobar pulmonary sequestration: Report of three cases and literature review

Three cases of intra-abdominal extralobar pulmonary sequestration detected antenatally by ultrasound are reported. One case was associated with a large left diaphragmatic hernia. Sonographically, all the cases were found in the left supra-renal region presenting as a well-defined echogenic mass with cystic hypoechoic areas. The condition should be considered in the differential diagnosis of all antenatally detected upper abdominal echogenic masses, particularly when associated with a diaphragmatic hernia. Postnatal ultrasound-guided fine needle aspiration biopsy in one case yielded respiratory type epithelium and this procedure could provide a reasonably confident diagnosis of the lesion.     

Molecular evidence of fetal-derived chromosome 21 markers (STRs) in transcervical samples

Transcervical cells (TCCs), collected by flushing or aspiration at 8–13 weeks of gestation, were analysed for the presence of fetal-derived DNA sequences. DNA extracted from maternal peripheral blood, TCC samples, and placental tissue was amplified by the polymerase chain reaction (PCR) to detect small tandem repeat (STR) markers specific to chromosome 21. STR products of fetal origin could be clearly observed in four TCC samples. TCC samples collected by flushing or aspiration were also analysed by fluorescent in situ hybridization (FISH) using X and Y probes simultaneously: 46,XY cells could be detected in all TCC samples obtained from mothers with male fetuses.     

Estimation of the weight of chorionic villus samples obtained from first trimester pregnancies by transcervical aspiration

Eight obstetricians experienced in chorionic villus sampling were asked to estimate the weight of samples of villi with and without a reference photograph. Referral to the photograph significantly improved the accuracy of their estimations.     

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

Data from 1550 consecutive pregnancies after first-trimester prenatal diagnosis by transcervical chorionic villus sampling (TC-CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5–100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X-linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (⩾36 years) against 3.1 per cent in the younger age group. In 1376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non-genetic congenital anomalies was 0.9 per cent. The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 percent of women again requested CVS in a subsequent pregnancy.