Morphological features of a case of retinoic acid embryopathy

A case of retinoic acid embryopathy which was retrospectively diagnosed after delivery is presented. The affected fetus was exposed to the drug during the first month of pregnancy and second-trimester sonographic examination showed hydrocephalus and cardiacmalformation. The diagnosis was made on the basis of autopsy findings and genetic enquiry.     

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.     

46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype

46,XY/47,XY, + 17p + mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.     

Cystic Adenomatoid malformation of the lung: Prenatal diagnosis and outcome

During an 8-year period (1984–1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17–39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different types of CAM, associated malformations, and outcome. The lesions were macrocystic in 78 (59 per cent) and microcystic in 54 (41 per cent) of the cases. CAM was left-sided in 51 per cent, right-sided in 35 per cent, and bilateral in 14 per cent of the fetuses. In 15 (11 per cent) of the fetuses there were additional malformations and 57 (43 per cent) were hydropic. The pregnancy was electively terminated in 44 (33 per cent) of the cases, including all those with bilateral CAM. There were six (5 per cent) intrauterine deaths, five in association with hydrops, and one with growth retardation and heart defect. Of the 82 (62 per cent) infants that were liveborn, 21 (26 per cent) died in the neonatal period, 15 before and six after surgery. Of the 61 survivors, 16 (26 per cent) did not require surgery. In the 88 cases where the pregnancy was not terminated, survival was better if the CAM was macrocystic (74 per cent versus 58 per cent for microcystic), if there was no hydrops (92 per cent versus 21 per cent for hydrops), and if the amniotic fluid volume was normal or decreased (82 per cent versus 53 per cent for polyhydramnios).     

Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure

We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. Copyright © 2005 John Wiley & Sons, Ltd.     

A regional survey of malformed frogs in Minnesota (USA) (Minnesota malformed frogs)

In late 1995, school children discovered malformedfrogs in a south central Minnesota pond. Press coverage resultedin numerous citizen reports of frog malformation across Minnesotain 1996. After some initial site investigation, 3 affected frogsites and 4 nearby reference sites were selected for moredetailed evaluation. Field biologists made 89 visits to studysites beginning spring 1997 through fall 1999 to examine thenumber and type of frog malformations. Over 5,100 Leopardfrogs (Rana pipiens) were captured and examined atall study sites. Water elevations and associated littoralinundation were recorded from 1997-2000. Results indicate thatmalformation occurred at all study sites above historicalbackground levels. Rana pipiens malformation across allsites over three seasons averaged 7.9% and ranged from 0 to 7% at reference sites and 4 to 23% at affected sites. At onenorthern Minnesota site, mink frog (Ranaseptentrionalis) malformation was 75% in 1998. A sitecharacteristic common to the most affected sites was an elasticzone of littoral inundation. Climate driven hydrologic variationlikely influenced water depth and associated breeding locations.     

Semilobar holoprosencephaly in a 46,XY female fetus

We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads. Copyright © 2001 John Wiley & Sons, Ltd.     

太湖中微囊藻毒素的遗传毒性研究

应用Ames试验、小鼠骨髓嗜多染红细胞微核试验、小鼠精子畸形试验,对从太湖蓝藻水华中提取的微囊藻毒素进行测试.结果表明,太湖蓝藻水华中提取的微囊藻毒素对鼠伤寒沙门氏菌组氨酸缺陷型TA98菌株直接作用呈现致突变性,而经S9代谢活化作用后未呈现致突变性;可明显增强小鼠骨髓嗜多染红细胞的微核率,并呈现一定的剂量反应关系;但未引起小鼠精子畸变率的改变.      

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd.