Trisomía 9, trisomía 13 y trisomía 18: resultados del análisis citogenético prenatal, Hospital Clínico Universidad de Chile, años 2000-2017 / Trisomy 9, trisomy 13 and trisomy 18: results of the prenatal cytogenical analysis, Hospital Clínico Universidad de Chile, years 2000-2017

INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.

INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.

Biosynthesis of poly-beta-hydroxyalkanoate by Brevundimonas vesicularis LMG P-23615 and Sphingopyxis macrogoltabida LMG 17324 using acid-hydrolyzed sawdust as carbon source.

Poly-beta-hydroxyalkanoate (PHA) is a biodegradable polymer accumulated in intracellular granules by different bacterial species. Its physical and chemical properties are similar to those of petroleum-derived plastics. Material generated by the acid hydrolysis of wood was evaluated for use in the bacterial synthesis of PHA. Acid-hydrolyzed sawdust was prepared and adjusted to pH 7. Mineral salts with carbon:nitrogen (C:N) proportions of 100:1, 100:3.5, 100:10, 100:30, or 100:50 and trace elements were added and these solutions were inoculated with a bacterial strain Brevundimonas vesicularis LMG P-23615 or Sphingopyxis macrogoltabida LMG 17324. The percentage of cells accumulating PHA was evaluated by flow cytometry. The hydrolyzed sawdust composition was analyzed by gas chromatography-mass spectrometry (GC-MS) and high performance liquid chromatography (HPLC). The organic material (601.5 mg l(-1)) contained 112.5 mg l(-1) sugars. Over 96% of these sugars were consumed and more than 90% of the bacterial cells accumulated PHA. The 100:3.5 C:N proportion was optimal for growth and PHA synthesis, with yields ranging from 64% to 72% of the dry cell weight. The results suggest that acid-hydrolyzed sawdust can be used by bacteria as a carbon source for growth and PHA production. This forestry by sub-product offers a low-cost alternative for obtaining biodegradable plastics (e.g., PHA) synthesized by bacteria.

Biosynthesis of poly-beta-hydroxyalkanoates by Sphingopyxis chilensis S37 and Wautersia sp. PZK cultured in cellulose pulp mill effluents containing 2,4,6-trichlorophenol.

Poly-beta-hydroxyalkanoates (PHA) polymer is synthesized by different bacterial species. There has been considerable interest in the development and production of biodegradable polymers; however, the high cost of PHA production has restricted its applications. Kraft cellulose industry effluents containing 2,4,6-trichlorophenol (10 or 20 microg ml(-1)) were used by the bacteria Sphingopyxis chilensis S37 and Wautersia sp. PZK to synthesize PHA. In this condition, S. chilensis S37 was able to grow and degrade 2,4,6-trichlorophenol (ca. 60%) and 80% of these cells accumulated PHA. Wautersia PZK completely degraded 2,4,6-TCP and more than 90% of the cells accumulated PHA in 72 h. The PHA detection was performed by flow cytometry and polyester composition was characterized by gas chromatography-mass spectroscopy (GC-MS), indicating that these polymers are made by 3-hydroxybutyric acid and 3-hydroxyhexadecanoic acid for S37 and PZK strains, respectively. Results demonstrated that strains' growth and PHA production and composition are not modified in cellulose effluents with or without 2,4,6-TCP (10-20 microg ml(-1)). Therefore, our results indicate that S. chilensis S37 and Wautersia sp. PZK are able to degrade a toxic compound such as a 2,4,6-TCP and simultaneously produce a valuable biopolymer using low-value substrates.