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      Cariotipos fetales en embarazos de alto riesgo genético provenientes de hospitales de la seguridad social y de la consulta privada, de 1993 a 1998

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          Abstract

          El objetivo de este estudio fue identificar cromosomopatía fetal en voluntarias con embarazos de alto riesgo genético, a fin de brindar adecuada atención obstétrica y pediátrica y asesoramiento genético. Las células fetales se obtuvieron mediante amniocentesis (N=506) y cordocentesis (N=46) desde 1993 hasta 1998 inclusive. Ambas punciones fueron transabdominales, guiadas por ultrasonografía y se realizaron en los hospitales Calderón Guardia (63% de las amniocentesis y 45 cordocentesis), México (21% de las amniocentesis y una cordocentesis), en la consulta privada (12%) y otros hospitales. La indicación del 62% de las amniocentesis y de casi todas las cordocentesis fue el examen ultrasonográfico anormal y el 23% de las punciones fue por edad materna avanzada. El 66% de las veces el estudio se realizó en la segunda mitad del embarazo. De las 552 muestras de líquido amniótico y sangre fetal, en 109 no fue posible obtener resultados. Los 443 cariotipos fetales obtenidos fueron anormales en 39 casos (9%): 21 cariotipos trisómicos, ocho casos con síndrome de Turner (45,X), tres mosaicos cromosómicos y siete cariotipos anormales por otras causas. El resultado final se obtuvo en 15 días (mediana). En el seguimiento de los casos se encontró concordancia entre el cariotipo y el fenotipo del recién nacido, al igual que entre el diagnóstico ultrasonográfico fetal y la condición del neonato. El diagnóstico prenatal de cromosomopatía permitió el asesoramiento genético y el manejo obstétrico y pediátrico de los casos de manera adecuada. En los embarazos con cariotipo normal, esta información alivió la preocupación de muchos de los padres.

          Translated abstract

          The results of 506 genetic amniocentesis and 46 percutaneous umbilical blood samplings, from 1993 to 1998, are reported. There were two main reasons for referral: abnormal ultrasound assessment (62% of cases) and advanced maternal age (23%). Most procedures (66%) were performed during the second half of pregnancy. Fetal cells were closed cultured and mass harvested. In 9% of cases fetal chromosomes were abnormal, due to trisomies 18, 21 and 13, monosomy X, mosaic trisomies 21 and 22, balanced and unbalanced translocations, extra structurally abnormal chromosomes and other defects. Two cases of pseudomosaicism were detected. Turn around time was 15 days median. Prenatal cytogenetic and sonographic findings correlated with the phenotype of the newborn. Prenatal diagnosis of fetal defects allowed genetic counseling as well as better obstetric management and pediatric care. Normal results of both tests provided reassurance to prospective parents.

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          Most cited references35

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          Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk.

          The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%.
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            Survival in trisomy 18.

            Prenatal diagnosis of trisomy 18 by amniocentesis in the latter half of pregnancy is now a common event. Accurate prognostic information is crucial for families making decisions about delivery management. Three recently published studies showed much shorter survival for trisomy 18 than was reported by earlier papers. For this reason, we studied trisomy 18 survival. We examined chromosome laboratory records to find all trisomy 18 diagnoses made in Utah between 1979 and 1988. Death certificates and hospital records were used to determine survival. We found 64 liveborn cases with trisomy 18 out of 388,563 total births over the 10-year period, a prevalence of 1/6071. Our results show a median survival of 4 days and a 1 week survival of 45%, similar to that reported in the 3 recent studies. However, we had a significantly greater survival at 6 months (9% in Utah versus 3% in Denmark) and 1 year (5% versus 0 in the 3 studies). In contrast to recent studies, earlier investigations showed 80% survival at 2 weeks and 8% at 1 year. It is not surprising that recent studies show shorter survival, since in the 1960s the diagnosis was typically not made until age 2 months. With prenatal and neonatal diagnosis many cases which would have died prior to detection in earlier times are now diagnosed. The longer survival discrepancies are more difficult to explain, but may simply be due to small numbers.
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              Natural history of trisomy 18 and trisomy 13: II. Psychomotor development.

              Developmental data were abstracted from medical records on 50 trisomy 18 individuals ranging in age from 1 to 232 months and 12 trisomy 13 individuals ranging in age from 1 to 130 months. Data on the age when trisomy 18 and trisomy 13 children achieved developmental skills were collected from a larger group of 62 trisomy 18 individuals and 14 trisomy 13 individuals whose families filled out parent questionnaires. Developmental quotient (DQ), defined as developmental age divided by chronological age, averaged 0.18 for trisomy 18 and 0.25 for trisomy 13. There was a dramatic drop in DQ from infancy to later childhood. The highest DQs and the greatest variation in DQs were in the first 2-3 years of life. Developmental ages in 7 skill areas were significantly different, with daily living and receptive language having the highest values and motor and communication skills having the lowest. When chronological age was taken into account, there was no significant difference in DQs in the same 7 skill areas, although there was a trend that was similar to the pattern of differences with developmental age. Older children could use a walker, understand words and phrases, use a few words and/or signs, crawl, follow simple commands, recognize and interact with others, and play independently. Walking and some toileting skills were also reported for trisomy 13. Although individuals with trisomy 18 and trisomy 13 were clearly functioning in the severe to profound developmentally handicapped range, they did achieve some psychomotor maturation and always continued to learn.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                amc
                Acta Médica Costarricense
                Acta méd. costarric
                Colegio de Médicos y Cirujanos de Costa Rica (San José )
                0001-6012
                March 2000
                : 42
                : 1
                : 25-30
                Affiliations
                [1 ] Universidad de Costa Rica Costa Rica
                [2 ] Caja Costarricense de Seguro Social Costa Rica
                [3 ] Caja Costarricense de Seguro Social Costa Rica
                Article
                S0001-60022000000100008
                8e0d84e4-15ad-46d3-9672-b6be82dcd712

                http://creativecommons.org/licenses/by/4.0/

                History
                Product

                SciELO Costa Rica

                Self URI (journal page): http://www.scielo.sa.cr/scielo.php?script=sci_serial&pid=0001-6002&lng=en
                Categories
                Health Care Sciences & Services

                Health & Social care
                amniocentesis,prenatal diagnosis,fetal chromosome analysis,pregnancy,sonography,diagnóstico prenatal,amniocentesis genética,embarazo de alto riesgo,cromosomas fetales,anomalías intrauterinas

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