Anatomic correlates of ultrasonographic prenatal diagnosis

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.     

Chorionic villi sampling changes maternal serum alpha-fetoprotein

Second trimester amniocentesis has traditionally been utilized for prenatal genetic diagnosis. Chorionic villi sampling (CVS) is presently offered as an alternative. The occurrence of fetomaternal bleed (FMB) during CVS could increase the rate of post sampling abortion and, additionally, be of significance in patients at risk for isoimmunization. Detection and quantitation of FMB can be accomplished by the determination of changes in maternal serum alpha-fetoprotein (MSAFP) before and after CVS.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

The prenatal diagnosis of the Walker-Warburg Syndrome

On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalo-cele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

Reproductive toxicity of lead,cadmium, and phthalate exposure in men

Environmental toxicants viz lead or cadmium and phthalate esters (di(2-ethylhexyl) phthalate [DEHP], dibutyl phthalate [DBP], and diethyl phthalate [DEP]) widely found in different environmental strata are linked to deteriorating male reproductive health. The objective was to assess the relationships between the seminal lead, cadmium, and phthalate (DEHP, DBP, DEP) concentrations at environmental level and serum hormone levels and semen quality in non-occupationally exposed men and specify the effect of individual and combined exposure of toxicants on semen quality. A study of 60 male partners of couples attending the Andrology Laboratory of the Reproductive Biology Department, All India Institute of Medical Sciences (AIIMS), New Delhi, India for semen analysis to assess their inability to achieve a pregnancy was selected for the study. The results of univariate and stepwise multiple regression analysis in the unadjusted model showed a significant correlation between lead or cadmium and phthalates DEHP/DBP/DEP and sperm motility, sperm concentration, and DNA damage. After adjusting for potential confounders, an association with lead or DEHP was only observed. The present data shows that lead (Pb) or cadmium (Cd) or phthalates might independently contribute to decline in semen quality and induce DNA damage. Phthalates might influence reproductive hormone testosterone. These findings are significant in light of the fact that men are exposed to a volley of chemicals; however, due to the small sample size, our finding needs to be confirmed in a larger population.     

Oxidative stress response in dye degrading bacterium Lysinibacillus sp. RGS exposed to Reactive Orange 16, degradation of RO16 and evaluation of toxicity

Lysinibacillus sp. RGS degrades sulfonated azo dye Reactive Orange 16 (RO16) efficiently. Superoxide dismutase and catalase activity were tested to study the response of Lysinibacillus sp. RGS to the oxidative stress generated by RO16. The results demonstrated that oxidative stress enzymes not only protect the cell from oxidative stress but also has a probable role in decolorization along with an involvement of oxidoreductive enzymes. Formation of three different metabolites after degradation of RO16 has been confirmed by GC-MS analysis. FTIR analysis verified the degradation of functional groups of RO16, and HPTLC confirmed the removal of auxochrome group from the RO16 after degradation. Toxicity studies confirmed the genotoxic, cytotoxic, and phytotoxic nature of RO16 and the formation of less toxic products after the treatment of Lysinibacillus sp. RGS. Therefore, Lysinibacillus sp. RGS has a better perspective of bioremediation for textile wastewater treatment.