ABSTRACT
INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in five Latin American countries and determine their effect on carrier individuals. METHODS This was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fluid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTS Of the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identified three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities. CONCLUSIONS Three new de novo breakpoints were identified, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America.
Subject(s)
Chromosome Aberrations , Prenatal Diagnosis , Chromosome Breakpoints , Colombia , Costa Rica , Cuba , Female , Genetic Counseling , Humans , Karyotyping/methods , Mexico , Pregnancy , Prenatal Diagnosis/methods , UruguayABSTRACT
Epidemiological and physiological similarities among Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) suggest that both diseases, share a common genetic background. T2D risk variants have been associated to GDM susceptibility. However, the genetic architecture of GDM is not yet completely understood. We analyzed 176 SNPs for 115 loci previously associated to T2D, GDM and body mass index (BMI), as well as a set of 118 Ancestry Informative Markers (AIMs), in 750 pregnant Mexican women. Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16 x 10(-06); OR=2.95) and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98 x 10(-05); OR=0.55). In addition, we found two loci associated to glycemic traits: CENTD2 (60' OGTT glycemia: rs1552224, P=0.03727) and MTNR1B (HOMA B: rs1387153, P=0.05358). Remarkably, a major susceptibility SLC16A11 locus for T2D in Mexicans was not shown to play a role in GDM risk. The fact that two of the main T2D associated loci also contribute to the risk of developing GDM in Mexicans, confirm that both diseases share a common genetic background. However, lack of association with a Native American contribution T2D risk haplotype, SLC16A11, suggests that other genetic mechanisms may be in play for GDM.
Subject(s)
Diabetes Mellitus, Type 2/genetics , Diabetes, Gestational/genetics , Polymorphism, Single Nucleotide , Adult , Carrier Proteins/genetics , Diabetes Mellitus, Type 2/epidemiology , Diabetes, Gestational/epidemiology , Female , GTPase-Activating Proteins/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Humans , KCNQ1 Potassium Channel/genetics , Mexico/epidemiology , Monocarboxylic Acid Transporters/genetics , Pregnancy , Receptor, Melatonin, MT2/genetics , Transcription Factor 7-Like 2 Protein/genetics , Young AdultABSTRACT
Several studies have identified nearly 40 different type 2 diabetes susceptibility loci, mainly in European populations, but few of them have been evaluated in the Mexican population. The aim of this study was to examine the extent to which 24 common genetic variants previously associated with type 2 diabetes are associated in Mexican Mestizos. Twenty-four single nucleotide polymorphisms (SNPs) in or near genes (KCNJ11, PPARG, TCF7L2, SLC30A8, HHEX, CDKN2A/2B, CDKAL1, IGF2BP2, ARHGEF11, JAZF1, CDC123/CAMK1D, FTO, TSPAN8/LGR5, KCNQ1, THADA, ADAMTS9, NOTCH2, NXPH1, RORA, UBQLNL, and RALGPS2) were genotyped in Mexican Mestizos. A case-control association study comprising 1,027 type 2 diabetic individuals and 990 control individuals was conducted. To account for population stratification, a panel of 104 ancestry-informative markers was analyzed. Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1). In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic subgroup, and for rs7903146 (TCF7L2), association was observed for early-onset type 2 diabetes. Lack of association for the rest of the variants may have resulted from insufficient power to detect smaller allele effects.
Subject(s)
Diabetes Mellitus, Type 2/genetics , Polymorphism, Single Nucleotide/genetics , Calcium-Calmodulin-Dependent Protein Kinase Type 1/genetics , Cation Transport Proteins/genetics , Cyclin-Dependent Kinase 5/genetics , Cyclin-Dependent Kinase Inhibitor p15/genetics , Female , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study , Genotype , Homeodomain Proteins/genetics , Humans , KCNQ1 Potassium Channel/genetics , Male , Mexico , Middle Aged , RNA-Binding Proteins/genetics , Transcription Factor 7-Like 2 Protein/genetics , Transcription Factors/genetics , Zinc Transporter 8 , tRNA MethyltransferasesABSTRACT
BACKGROUND: The preeclampsia is a multisystemic syndrome that occupied the first cause of maternal and fetal mortality around the world. Epidemiologic studies shown both mother and father contribute at the same risk for preeclampsia. OBJECTIVE: To determinate if there is an association between preeclampsia and paternal age. MATERIAL AND METHOD: Preeclampsia-eclampsia patients and couples were analyzed in agree to "National High Blood Pressure Education Program Working Group" classification, and a control group constituted by normal pregnant women and couples was included. RESULTS: There were 27 cases with mild preeclampsia and her couples, 13 cases with severe preeclampsia and her couples and 40 controls conformed by normal pregnant women and her couples. The statistical analysis of variance of the ages shown that men from preeclamptic group had a greater variance in contrast with man of control group (p < 0.001; valor of F = 5.084). CONCLUSIONS: Although is not clear how paternal age interview in preeclampsia risk, the interaction between paternal-maternal imprinting and spermatic senescence, followed by shortened telomeres of chromosome, could be produce the inactivity of a whole network of signals implicated in disease aetiology.
Subject(s)
Eclampsia/epidemiology , Paternal Age , Pre-Eclampsia/epidemiology , Adult , Causality , Diabetes Mellitus/genetics , Female , Genomic Imprinting , Humans , Hypertension/genetics , Male , Maternal Age , Middle Aged , Models, Biological , Pilot Projects , Pregnancy , Risk , Young AdultABSTRACT
OBJECTIVE: To determine the fetal lung maturity in a group of pregnant patients complicated by gestational diabetes or impaired glucose tolerance, metabolic controlled patients, as well as to identify the modifications of the phospholipids lung profile by effect of antenatal steroids. PATIENTS AND METHODS: 231 pregnant patients were included in an observational, longitudinal, clinical and descriptive study from January 1st 2000 to April 30th 2003. All those included presented gestational diabetes or impaired glucose tolerance according to the criteria of Carpenter. The metabolic control was demonstrated by means of glycosylated hemoglobin figures minor to 6.5%, and glucose monitoring (<95 mg/dL before meals and < 120 mg/dL two hours after each meal). The amniocentesis was performed just before the use of antenatal steroids and 48 hours after. The phospholipids lung profile was performed applying the Hallman and Kulovich method. RESULTS: By means of the Student's t-test non significant results were obtained for the general characteristics of both groups, except for the evolution of the phospholipids lung profile in the post-treatment group with antenatal steroids. As for the evolution of the fractions in the profile of the weekly phospholipids, an ANOVA test was applied with a p < 0.001 coefficient of statistical significance for the phosphatidylglycerol fraction. CONCLUSIONS: Delay of fetal lung maturity was shown in all the fractions of the phospholipids lung profile. In the group of patients with pregnancies of 36 weeks or more there was shown no correspondence among gestational age and the state of fetal lung maturity (60.75%), in comparison to that reported in existing literature. There were not reported cases of respiratory distress syndrome in the newborns.
Subject(s)
Diabetes, Gestational , Fetal Organ Maturity , Glucose Intolerance , Lung/metabolism , Pregnancy Complications , Adult , Amniocentesis , Amniotic Fluid/chemistry , Dexamethasone/administration & dosage , Dexamethasone/pharmacology , Dexamethasone/therapeutic use , Diabetes, Gestational/blood , Female , Fetal Organ Maturity/drug effects , Follow-Up Studies , Gestational Age , Glucose Intolerance/blood , Glycated Hemoglobin/analysis , Humans , Middle Aged , Phospholipids/analysis , Pregnancy , Pregnancy Complications/blood , Young AdultABSTRACT
Se trató de conocer la eficacia del enprostil, un análogo de las prostaglandinas E2, como conductor del trabajo de parto en su fase latente en embarazos a término. Se incluyeron 188 pacientes, 52% manejadas con enprostil intracervical y 48% con ositocina. Se vigiló la evolución del trabajo de parto, la resolución del mismo y la aparición de complicaciones. Quince pacientes (15.6 por ciento) del grupo de estudio requirieron conducción del trabajo de parto con oxitocina por una inhibición del mismo posterior al bloqueo peridual. La resolución del embarazo fue principalmente por vía vaginal, únicamente 6.3 por ciento del grupo de estudio ameritó operación cesárea contra 10.3 por ciento del grupo testigo, siendo la indicación más frecuente la de dilatación estacionaria (uno y ocho casos respectivamente). Las complicaciones observadas fueron hemorragia postparto (3.1 por ciento), polisistolia (4.1 por ciento) y vómito (5.2 por ciento), sin diferencia significativa con el grupo testigo. Se concluye que la utilización de enprostillintracervical favorece la maduración cervical, acortando la fase latente y el trabajo de parto, disminuyendo los requerimientos de oxitocina y la incidencia de cesárea por distocia cervical sin comprometer la morbimortalidad materno perinatal.
Subject(s)
Humans , Female , Pregnancy , Labor, Induced/statistics & numerical data , Oxytocin , Prostaglandins , Biological Evolution , Obstetric Labor ComplicationsABSTRACT
Al analizar la casuística del Servicio de Medicina Perinatal del Centro Hospitalario 20 de noviembre del ISSSTE durante 1986-1987, se reconoció al embarazo prolongado como la causa más frecuente de consulta. Por tal motivo se decidió realizar una revisión retrospectiva en búsqueda de algún método capaz de predecir la postmadurez del feto; al mismo tiemó se revisaron la metodología diagnóstica y de vigilancia utilizadas y los resultados y compliaciones con los recién nacidos de gestaciones prolongadas. Se analizaron un total de 361 casos de amenorrea prolongada, fueron eliminados 125 expedientes incompletos, por lo que quedaron para el estudio 236 casos. La edad gestacional promedio fue de 43 + - 1.3 semanas. De los 236 casos, se obtuvieron 52 (22%) recién nacidos postmaduros; y 184 (78%) con características de término. La mayoría de las variables analizadas no muestran diferencia estadísticamente significativa, sin embargo, se notó una asociación frecuente entre postmadurez y disminución en la cantidad de líquido amniótico por estudio ultrasonográfico; así como la tinción meconial del líquido amniótico, por lo que finalmente se propone un cambio en el protocolo del manejo del embarazo prolongado que se había utilizado en años anteriores.
Subject(s)
Humans , Pregnancy , Female , Pregnancy, Prolonged , Ultrasonography , Amniotic Fluid , Cardiotocography , Gestational AgeABSTRACT
Se analizaron 179 pacientes sometidas al procedimiento de amniocentesis genética (AG), en sesiones con tres inentos o punciones máximos en cada una. El líquido amniótico (LA) extraído (LA) extraído se envió a la sección de Citogenética para estudio y cultivo, dentro de un programa para diagnóstico prenatal (DP) en el Hospital Regional "20 de Noviembre" del ISSSTE, en el periodo comprendido entre mayo de 1983 a diciembre de 1987. Se tomaron los parámetros de edad, indicaciones, número de sesiones, número de punciones, estudio ecosonográfico para corroboración de: edad gestacional, inserción placentaria, elección de sitio de punción, volumen de LA. Además, contaminación de la muestra de sangre, fallas, manejo y origen de la paciente. El escurrimiento de LA y la hemorragia transvaginal o machado no se presentaron en nuestros casos. La inserción múltiple con técnica de aguja libre y lesiones de placenta o vasos del cordón como causas de muerte fetal son aún discutibles si se toman las medidas para evitarlo y en nuestros casos tampoco se presentaron esas complicaciones, está referido que cuando se presentan es bajo si no existe antecedente de abortos espontáneos. El 79% de las muestras se tomaron entre las 15 y 17 semanas de gestación. Doce (12) muestras fueron para determinación de alfa-fetoproteínas (AFP) y una para estudio bioquímico, en especial para determinación de beta-galactosidas que fue realizada en el ñstituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México (UNAM), en padres portadores de gangliosidosis generalizada GMI. Aun con buenos reultados, el procedimiento no deja de presentar riesgos/ complicaciones. Un estudio de ecosonografia es indispensable y debe ser efectuado por médicos con experiencia para su confiabilidad. Se observa la necesidad de crear más centros para diagnóstico prenatal en nuestro país
