Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

Iniencephaly is not uniformly fatal

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.     

Is maternal alpha-fetoprotein screening still of value in a low-risk area for neural tube defects?

Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early.     

Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

特定生态系统对水源地水质改善的研究

通过构建水生动物-人工介质新型生态系统来研究太湖水源地水质改善效果.中试试验结果表明,对比3d和7d的水力停留时间(HRT),当HRT:7d,系统对TN、NO2--N、NO3--N、TP、PO4--P的平均去除率可分别达到79.00%、63.46%、14.57%、67.43%、35.81%;对比空白池,TN、NO2--N、NO3--N、TP、PO4--P的平均去除率仅为9.67%、7.09%、1.30%、9.92%、7.04%.通过该系统中水生动物的吸收和人工介质上微生物降解的协同作用,使得氮磷类污染物的去除效果明显.可见,水生动物-人工介质生态系统对改善太湖水源地水质有良好的效果,对构建安全的水源地生态系统具有积极的意义.     

Design of policy mechanism to promote cleaner production in China

ＩｎｔｒｏｄｕｃｔｉｏｎＣｌｅａｎｅｒｐｒｏｄｕｃｔｉｏｎ (ＣＰ)ｈｏｌｄｓｇｒｅａｔｐｒｏｍｉｓｅａｓａｎｅｆｆｅｃｔｉｖｅｓｔｒａｔｅｇｙｉｎｔｈｅｆａｃｅｏｆｄｏｕｂｌｅｃｈａｌｌｅｎｇｅｓｏｆｅｎｖｉｒｏｎｍｅｎｔａｌｐｒｏｔｅｃｔｉｏｎａｎｄｅｃｏｎｏｍｉｃｄｅｖｅｌｏｐｍｅｎｔ.Ｉｎ 1993,ａｄｅｍｏｎｓｔｒａｔｉｏｎｐｒｏｊｅｃｔ (Ｂ 4ｐｒｏｊｅｃｔ) ,ｄｅｓｉｇｎｅｄａｎｄｅｘｅｃｕｔｅｄｂｙｔｈｅＳｔａｔｅＥｎｖｉｒｏｎｍｅｎｔａｌＰｒｏｔｅｃｔｉｏｎＡｄｍｉｎｉｓｔｒａｔｉｏｎ (…     

Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.