Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Prenatal diagnosis of β thalassaemia by reverse phase HPLC

Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of β thalassaemia. The two methods correlated highly (r = 0.97 p < 0.0005) and provided an identical diagnosis for 40 fetal blood samples of fetuses homozygous or heterozygous for β thalassaemia. The HPLC procedure was much faster and required fewer biochemical steps (no globin preparation). It was at least as accurate and more sensitive than the classical chromatography. A single column can be used for 150 analyses and is always ready to be used. Last but not least it is much less expensive than CMC chromatography.     

Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene. The blighted ovum was found to have a Y chromosome and also to be deleted for at least exon 6 of the dystrophin gene, indirectly indicating that the mother most likely carried the family mutation for Becker muscular dystrophy.     

Prenatal sonographic assessment of early,rapidly growing fetal cervical teratoma

Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid-trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.     

Effect of long-term fertilization on soil nitrate distribution

ＩｎｔｒｏｄｕｃｔｉｏｎＦｅｒｔｉｌｉｚａｔｉｏｎｉｓｅｓｓｅｎｔｉａｌｆｏｒａｇｒｉｃｕｌｔｕｒａｌｐｒｏｄｕｃｔｉｏｎ ,ｂｕｔｕｎｒｅａｓｏｎａｂｌｙａｐｐｌｙｉｎｇｆｅｒｔｉｌｉｚｅｒｓｃｏｕｌｄｒｅｓｕｌｔｉｎｓｅｒｉｅｓｏｆｐｒｏｂｌｅｍｓｓｕｃｈａｓｃｒｏｐｑｕａｌｉｔｙｄｅｃｌｉｎｅ,ｆｅｒｔｉｌｉｚｅｒｕｓｅｅｆｆｉｃｉｅｎｃｙｄｅｃｒｅａｓｅ,ｒｅｓｉｄｕａｌｆｅｒｔｉｌｉｚｅｒｓｐｏｌｌｕｔｉｏｎ ｇｒｏｕｎｄｗａｔｅｒａｎｄｒｉｖｅｒｓａｎｄｎｉｔｒｏｇｅｎｃｏｎｔｅｎｔｅｄ …