Prenatal diagnosis of congenital cystic adenomatoid lung malformation: A report of seven cases

Six cases of macrocystic and one case of microcystic congenital adenomatoid lung malformation were diagnosed by ultrasound between 20 and 31 weeks of gestation. Combined polyhydramnios and fetal hydrops was present in three cases, polyhydramnios alone in one case, and isolated fetal hydrops also in one case. In the remaining two cases, both polyhydramnios and fetal hydrops were absent. Fetal outcome was poor, i.e., two terminations of pregnancy, three early neonatal deaths, and two survivors.     

Prenatal karyotyping in malformed fetuses

Experience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16-8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10-6 per cent) and in 21 of the 59 fetuses with multiple malformations (35-6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect.     

Maternal serum alpha-fetoprotein and fetal triploidy

Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid acetylcholinesterase (ACHE), fetal pathology, and placental pathology in sex second-trimester pregnancies complicated by fetal triploidy. Four of these patients had MSAFP values greater than 7.5 multiples of the median (MoM). Five of six pregnancies had MSAFP values greater than 2.25 MoM. All five of these patients had a partial mole. Four patients had amniotic fluid AFP values greater than 2.0 MoM. Two fetuses had associated neural tube defects. These were the only patients with positive amniotic fluid ACHE. None of the other patients had fetuses with anomalies that are known to be associated with an elevated MSAFP. The elevated MSAFP appeared to be related to the presence of a partial mole. Two of the five cases with an MSAFP greater than 2.25 MoM did not have sonographic evidence of a significant anomaly. Therefore, karyotyping can be of benefit in evaluating patients with elevated MSAFP.     

菌根真菌在墨兰和建兰根中的感染特征及生理特性

从产于粤北山区的野生建兰报中分离出4株内生真菌,并对这些真菌在兰根上的感染特征及生理学特性进行了研究。结果表明,菌根真菌多数浸染植株根段离很尖3～18cm的根毛区,而根尖和新长出的根则很少被感染;几乎所有的老根都受过真菌的感染。真菌菌丝从兰报表皮侵入,通过表皮层进入皮层薄壁细胞内部形成菌丝团,而在表皮层并不进入细胞内,也不形成菌丝团。真菌感染极状整后第9天,皮层细胞内的菌丝团开始消解。所分离的菌株能利用大部分简单的有机碳源和氮源,能在营养成分不明确的天然介质中生长良好,但对硝酸盐的利用较差。     

菌根真菌侵染对植物生物量累积的影响

为了从生态系统尺度探讨菌根资源与植物生物量累积的关系,调查了鼎湖山不同成熟度的三个森林群落主要优势树种的菌根侵染情况.综合分析各森林群落优势树种的个体数、生物量和菌根侵染率发现：1）菌根侵染率与径向生长速率相关,植物生长迅速的阶段菌根侵染率更高.中径级（胸径15-30 cm）的马尾松（Pinus massoniana）和锥（Castanopsis chinensis）的侵染率比小径级（胸径1-15 cm）个体的侵染率高,而大径级个体（胸径30 cm 以上）的侵染率略低于中径级个体的侵染率.木荷（Schima superba）则表现出侵染率随着胸径增大而增高的趋势.2）树种在群落内的侵染率越高,其对群落生物量的贡献率越大.如马尾松在马尾松林和混交林的侵染率分别为（77.30±18.02）%和（40.50±14.42）%,其对马尾松林群落生物量的贡献率达到87.43%,是对混交林生物量贡献率（17.51%）的5 倍.混交林和阔叶林的共有优势树种锥的侵染率和生物量贡献率也有存在相同规律.3）根系碳储量占群落总碳储量比例较高的群落其优势树种平均侵染率相对较高.马尾松林、混交林和季风常绿阔叶林中,根系碳储量占群落总碳储量的比例分别为55%、54%、42%,群落优势树种平均侵染率分别为（66.73±10.55）%、（46.97±27.28）%、（54.22±25.45）%,马尾松林的根系碳储量和平均侵染率均高于混交林和季风常绿阔叶林.以上结果表明,菌根真菌侵染对于植物个体生长速率以及群落水平的生物量累积具有-定的促进作用.     

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.     

Schizencephaly: Prenatal diagnosis by computed sonography and magnetic resonance imaging

Magnetic resonance (MR) imaging was performed at 29 weeks of pregnancy after ultrasonographic detection of an abnormal cleft in the fetal brain. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of schizencephaly improving the visualization of symmetrical broad clefts connecting the lateral ventricles with the subarachnoid space. Schizencephaly was finally confirmed by neonatal US, computed tomography, and MR.     

A possible prenatal evaluation of renal function by amino acid analysis on fetal urine

Intrauterine treatment of 4 fetuses with urethral obstruction was attempted in the third trimester of pregnancy. The fetuses displayed varying sonographic findings including pyelectasis, caliectasis, hydroureter, bladder dilatation, ascites, hydrops, missing kidneys and oligohydramnios. Ultrasonically guided aspiration from the dilated structures was carried out to relieve pressure on the kidney parenchyme and to collect fluid samples for diagnostic purposes. Amino acid concentrations in the fetal urine showed a pattern similar to plasma in 2 fetuses, a pattern almost like urine in 1 fetus and an intermediate pattern in the 4th fetus. Only the fetus with normal amino acid concentrations in the urine survived: the other 3 died in uremia shortly after birth. In 3 cases cells from the aspirated urine were cultured and used for chromosome analysis. The cell cultures grew fast and karyotyping was possible within 1 week. In 2 fetuses an intrauterine catheter was inserted to drain the kidney permanently into the amniotic cavity. In the first case the catheter was displaced to the fetal abdomen after some days of successful drainage. In the second case the catheter tore the placenta, and the child had to be delivered immediately.     

Normal fetal cardiac anatomy–a basis for the echocardiographic detection of abnormalities

Real-time examination of the fetal heart in 350 pregnancies has allowed a composite picture of normal fetal cardiac anatomy to be established and echocardiographic interpretation has been confirmed by anatomical studies. Two echocardiographic sections are readily obtainable and are suggested as applicable to routine scanning but the specialist nature of interpreting abnormalities is stressed. Six abnormalities have been suspected during the study and five confirmed anatomically or at cardiac catheterization. In view of the low incidence of congenital heart disease in a normal obstetric population, high risk groups should perhaps be selected for cardiac scanning at the present time. These include mothers of previously affected babies, diabetic mothers and certain abnormalities of pregnancy. Fetal ascites is particularly important, being present in three of the four proven cases of cardiac abnormality.