ABSTRACT
The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean regions. Newborns from seven hospitals in Independencia, Providencia, Santiago, Curicó, Cauquenes, Valdívia, and Puerto Montt communes, belonging to the Chilean regions of Santiago, Maule, and Los Lagos, were studied. The presence of Native American mitochondrial DNA (mtDNA) haplogroups and two markers present in the non-recombinant region of the Y chromosome, DYS199 and DYS287, indicative of Native American and African ancestry, respectively, was determined. A high Native American matrilineal contribution and a low Native American and African patrilineal contributions were found in all three studied regions. As previously found in Chilean admixed populations, the Native American matrilineal contribution was lower in Santiago than in the other studied regions. However, there was an unexpectedly higher contribution of Native American ancestry in one of the studied communes in Santiago, probably due to the high rate of immigration from other regions of the country. The population genetic sub-structure we detected in Santiago using few uniparental markers requires further confirmation, owing to possible stratification for autosomal and X-chromosome markers.
ABSTRACT
BACKGROUND: Orofacial clefts are common and have a great medical and social importance. The Latin American Study of Congenital Malformations (ECLAMC), has maintained an epidemiological surveillance of congenital malformations since 1969, allowing the evaluation of trends in the prevalence of malformations. AIM: To evaluate the evolution curve of prevalence rates of orofacial clefts from 1971 to 2008. MATERIAL AND METHODS: All cases of orofacial clefts, occurring in newborns from the maternity of a university hospital from January 2000 to December 2008, were recorded as part of the ECLAMC. Historical information about the rates of the malformation between 1971 and 1999, was obtained from previous manuscripts of the authors. RESULTS: In the study period, 15,635 children were born and 46 had cleft lip-palate (3). This rate is significantly higher than those observed previously, that fluctuated between 1.5 and 1.7. The prevalence rates of cleft lip remained stable from 1971 to 1999 and suffered a brisk and significant rise in the period 2000-2008 When the period is analyzed year by year, the increase in rates is observed in the last two years. The rates of cleft palate suffered a slight non significant rise until 2000. CONCLUSIONS: The increased rates of cleft lip palate observed in the last two years of the observation period may be a random result and should be monitored in the future.
Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Population Surveillance , Birth Weight/physiology , Child , Chile/epidemiology , Female , Forecasting , Gestational Age , Hospitals, Maternity , Hospitals, University , Humans , Infant, Newborn , Male , Maternal Age , PrevalenceABSTRACT
BACKGROUND: Microtia is a congenital defect characterized by disturbances in the size and form of the ear lobe. Anotia corresponds to the absence of the ear lobe. AIM: To study the prevalence of microtia and anotia at the Maternity of the University of Chile Clinical Hospital. MATERIAL AND METHODS: Analysis of the database of the Latin American Collaborative Study of Congenital Defects (ECLAMC). All newborns and stillborns with congenital defects are incorporated to this database. RESULTS: The prevalence of microtia-anotia in the period 1982-2001 was 8.7 per 10,000 born alive. Chilean hospitals have an uniform prevalence of 5.2 per 10,000 born alive. Thirty seven percent presented as isolated malformations and the rest were associated to other defects. Eighty six percent of non isolated cases were part of a syndrome. Sixty eight percent were mild or moderate forms and the rest, severe forms. Two cases were stillborns and two newborns died before hospital discharge. CONCLUSIONS: The prevalence of microtia in this hospital and in the rest of Chilean hospitals is significantly higher than in the rest of non Chilean hospitals participating in the ECLAMC, that is 4.1 per 10,000 born alive.
Subject(s)
Ear, External/abnormalities , Case-Control Studies , Chi-Square Distribution , Chile/epidemiology , Congenital Abnormalities/epidemiology , Female , Hospitals, Maternity , Hospitals, University , Humans , Infant, Newborn , Live Birth , Male , Prevalence , Severity of Illness Index , StillbirthABSTRACT
Chile has experienced advances in the primary prevention of congenital defects. This article review separately the pre-conception and pre-natal prevention. The first avoids the production of a defective embryo and the latter avoids the effects of external agents, such as environmental teratogens, over a normaly conceived embryo. The preventive measures include education about the use of medications, lifestyles, alcohol and drug use and prenatal control of pregnant women. Special mention deserves nation wide programs held by the ministry of Health such as mandatory rubella vaccination, flour folic acid fortification and metabolic screening of phenylketonuria and congenital hypothyroidism. The role of the main chemical, physical and infectious teratogens is reviewed. A Decalogue of recommendations for primary prevention, elaborated by the Latin American Collaborative Study for Congenital Defects, is included.
Subject(s)
Congenital Abnormalities/prevention & control , Primary Prevention , Abnormalities, Drug-Induced/etiology , Abnormalities, Drug-Induced/prevention & control , Congenital Abnormalities/etiology , Female , Humans , Latin America , Maternal Age , Preconception Care , Pregnancy , Prenatal Care , Risk FactorsABSTRACT
Ovarian cysts are found in 32% of necropsies performed to neonates. They can also be diagnosed during gestation by ultrasonography. The clinical evolution of these cysts is variable, but in most cases the prognosis is favorable. Some complications such as ovarian torsion, bleeding, rupture and peritonitis have been described. We report two newborn girls with ovarian cysts, diagnosed during gestation. One required an emergency operation due to vomiting and abdominal distension, interpreted as a possible torsion of the cyst. The second girl was operated at the fourth day of life, finding a left ovarian cyst with torsion of the pedicle. Both girls had a favorable postoperative evolution.
Subject(s)
Fetal Diseases/diagnostic imaging , Ovarian Cysts/diagnostic imaging , Ultrasonography, Prenatal , Female , Humans , Infant, Newborn , Ovarian Cysts/surgery , Pregnancy , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: In Chile, 14 to 16% of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. AIM: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent mothers. PATIENTS AND METHODS: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC) data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. RESULTS: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. CONCLUSIONS: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity.
Subject(s)
Congenital Abnormalities/epidemiology , Infant, Low Birth Weight , Obstetric Labor, Premature/epidemiology , Pregnancy in Adolescence , Adolescent , Adult , Case-Control Studies , Child , Chile/epidemiology , Female , Humans , Infant, Newborn , Maternal Age , Pregnancy , PrevalenceABSTRACT
BACKGROUND: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. AIM: To study the association between chronic diseases of the mother and congenital malformations. MATERIAL AND METHODS: Review of the records of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR) of a mother to have a child with a congenital malformation was calculated. RESULTS: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. CONCLUSIONS: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers.
Subject(s)
Congenital Abnormalities/epidemiology , Hospitals, Maternity/statistics & numerical data , Pregnancy Complications , Chile/epidemiology , Chronic Disease , Confidence Intervals , Female , Humans , Infant, Newborn , Odds Ratio , Pregnancy , Retrospective Studies , Risk FactorsABSTRACT
BACKGROUND: There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. AIM: To report the frequency of digestive system congenital malformations in this population. MATERIAL AND METHODS: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. RESULTS: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. CONCLUSIONS: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations.
Subject(s)
Abnormalities, Multiple/epidemiology , Digestive System Abnormalities/epidemiology , Chile/epidemiology , Female , Hospitals, Maternity , Humans , Incidence , Infant Mortality , Infant, Newborn , Male , PrevalenceABSTRACT
BACKGROUND: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. AIM: To study the frequency of chromosomal aberrations in newborns with malformations. PATIENTS AND METHODS: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. RESULTS: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. CONCLUSIONS: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously.
Subject(s)
Chromosome Aberrations/statistics & numerical data , Congenital Abnormalities/epidemiology , Case-Control Studies , Chile/epidemiology , Congenital Abnormalities/genetics , Down Syndrome/epidemiology , Down Syndrome/genetics , Female , Humans , Infant, Newborn , Male , Prevalence , Risk Factors , Trisomy , Turner Syndrome/epidemiology , Turner Syndrome/geneticsABSTRACT
Se presenta el caso de una niña con un síndrome de Down atenuado cuyo cariotipoes: 46,XX, del (21) (qter-cen:0/46,XX-21 + i (21) (qter-cen-qter). El cariotipo de ambos padres es normal. Se discute el origen de ambas líneas celulares y el mecanismo de formación del isocromosoma
Subject(s)
Infant , Humans , Female , Mosaicism , Down Syndrome/genetics , KaryotypingABSTRACT
Por la alta gravedad que revisten las infecciones herpéticas en la esfera perinatal estudiamos 100 embarazadas sanas, a las que practicamos 100 cultivos para herpes simplex, 100 serologías por fijación del complemento y 100 frotis de Papanicolaou. Encontramos una frecuencia de 2% de infección (2 pacientes); ninguma de ellas ni sus cónyuges proporcionaron antecedentes de infección herpética en el pasado. Una de ellas abortó 4 semanas después del diagnóstico, y la segunda fue sometida a operación cesárea. Recién nacido normal. La citología no demostró lesiones comtibles con virus herpes en los casos positivos. La serología nos hace suponer que la infección aparentemente se debió a virus I en el primer caso (aborto) y virus II en el segundo caso. Se efectúa una revisión bibliográfica del tema, comentando las características generales de la infección y los cambios producidos en ella en los últimos años, como el estado de excretor asintomático, lesiones atípicas; lesiones genitales por virus I; grupos de alto riesgo, etc
Subject(s)
Pregnancy , Humans , Male , Female , Pregnancy Complications, Infectious/diagnosis , Herpes Simplex/diagnosis , Complement Fixation Tests , Herpes Simplex/prevention & control , Herpes Simplex/transmissionABSTRACT
Motivados por las cifras de frecuencia de Chlamydia trachomatis publicadas en la literatura, efectuamos un estudio de este micro organismo en 100 embarazadas, a través de un cultivo en células de Mc Coy complementado con un estudio citológico. Las cifras de prevalencia fueron de 5,4% en la muestra estudiada con un 40% de citologías que predijeron la infección, existiendo 66,6% de citologías positivas falsas. Se efectuó seguimiento de los RN del grupo chlamydia positiva, comprobándose que un 60% desarrolló una conjuntivitis clínica y ninguno de ellos presentó neumonía. Se analizan estos dos cuadros del RN se efectúa una breve reseña de los métodos de diagnóstico
Subject(s)
Pregnancy , Adolescent , Adult , Humans , Female , Chlamydia trachomatis , Pregnancy Complications, Infectious/epidemiology , Chlamydia Infections/epidemiology , Conjunctivitis/complications , Cytodiagnosis , Trachoma/complicationsABSTRACT
Se examinaron 100 embarazadas, en el Consultorio de la Pincoya (SNSS) elegidas al azar, a las cuales se les practicó 300 cultivos de Thayer Martin de cuello, recto y faringe y 300 tinciones de Gram. Cuatro embarazadas presentaron colonización de cuello por Neisseria Gonorrhoeae, y una de ellas presentó, además, colonización rectal. Ninguna de ellas ni sus cónyuges proporcionaron antecedentes de infección gonocócica ni otras enfermedades de transmisión sexual, (E.T.S.) en el pasado. La incidencia de la infección gonocócica en la embarazada sana fue de 4% de los casos analizados. El porcentaje de positivos falsos de la tinción de Gram en la muestra estudiada aconseja no usarlo como único método de detección. Ninguna de las embarazadas ni sus hijos presentaron patología atribuíble a Neisseria Gonorrhoeae