Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy

A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post-mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.     

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.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

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.     

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).     

A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus

We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in association with maternal uniparental disomy (UPD) 22, molecular studies were also performed. Microsatellite marker studies showed biparental inheritance. Follow-up studies after delivery showed a normal cell line in lymphocytes with the trisomy appearing to be confined to the placenta. The present case concurs with other earlier reports that maternal UPD for chromosome 22 has no impact on the phenotype. The features seen in the fetus are most likely the result of placental dysfunction due to trisomy, tissue-specific mosaicism and/or the effects of local growth restriction. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome

A case of prenatally diagnosed non-mosaic trisomy 20 in cells cultured from a chorionic villus sample (CVS)is presented. The term placental karyotype was also non-mosaic trisomy 20. The karyotype of thenewborn was 46,XY/47,XY,+20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY. Aside from diffuse, hypopigmentary swirls along the lines of Blaschko observed on hisextremities and trunk, referred to as hypomelanosis of Ito, the patient is clinically normal at 8¾ years ofage. In addition, he is one of the oldest reported cases of mosaic trisomy 20 confirmed after birth forwhich the clinical outcome has been monitored. This case demonstrates that these trisomy 20 findings are compatible with normal psychomotor development and phenotype. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia. Copyright © 2006 John Wiley & Sons, Ltd.     

Modeling of air quality with a modified two-dimensional Eulerian model： A case study in the Pearl River Delta （PRD） region of China

A modified two-dimensional Eulerian air quality model was used to simulate both the gaseous and particulate pollutant concentrations during October 21-24, 2004 in the Pearl River Delta （PRD） region, China. The most significant improvement to the model is the added capability to predict the secondary organic aerosols （SOA） concentrations because of the inclusion of the SOA formation chemistry. The meteorological input data were prepared using the CALMET meteorological model. The concentrations of aerosol-bound species such as NO3^-, NH4^＋, SO4^2-, and SOA were calculated in the fine particle size range （〈2.5 μm）. The results of the two-dimensional model were compared to the measurements at the ground level during the PRD Intensive Monitoring Campaign （IMC）. Overall, there were good agreements between the measured and modeled concentrations of inorganic aerosol components and O3. Both the measured and the modeled results indicated that the maximum hourly O3 concentrations exceeded the China National Air Quality Standard. The predicted 24-h average SOA concentrations were in reasonable agreement with those predicted by the method of minimum OC/EC ratio.