We present a prenatal diagnosis case with false negative result in long term villi culture discordant with short term villi culture showing trisomy 21. We discuss possible causes of discordance in this and similar cases and the best way to proceed to ensure correct diagnosis.

INTRODUCTION. Early prenatal diagnosis of chromosomal anomalies requires invasive techniques such as amniocentesis and chorionic villous sampling. We present our experience and the predictive value of ultrasonographic risk markers. DESIGN. Descriptive, transversal study. SETTING. Instituto Latinoamericano de Salud Reproductiva, Lima, Peru. BIOLOGIC SAMPLES. Amniotic fluid and placenta. INTERVENTIONS. We analyzed the results of 163 amniocentesis and 12 chorionic villous sampling performed at our institute between January 2003 and September 2007. MAIN OUTCOME MEASURES. Chromosome anomalies. RESULTS. The most frequent indication for prenatal invasive techniques was maternal age above 38 years; 48 (27,9%) of the samples obtained were positive for chromosomal anomalies and trisomy 21 the most common finding. The highest frequency of chromosomal anomalies was found in pregnancies with more tha...

Recurrent abortion - genetic, infectious Aspects

OBJECTIVE: To propose a protocol for the systematic study of hydrops fetalis in order to obtain an etiologic diagnosis. SETTING: Genetics Specialized Medical Center, Lima, Peru. MATERIAL AND METHODS: The proposed fluxogram is based on the study of 27 cases of non-immune fetal hydrops referred for chromosome analysis during the past ten years. Cytogenetic results, the evolution of the pregnancies, ultrasonographic images and pathologic studies were reviewed. Chromosome analysis were performed in 25 cases: 18 in amniotic fluid, 9 in chorionic villi and 2 in blood of the newborn. RESULTS: Eleven 11 (44%) cases had chromosomal abnormalities: 6, Turner syndrome; 3, trisomy 21; 1, trisomy 13, and 1, trisomy 7. The pathology of the placenta suggested infection in 2 cases. In one of these, the karyotype was normal, male; in the other, the cell culture was unsuccessful. In other cases with normal...

OBJECTIVE: To propose a protocol for the systematic study of hydrops fetalis in order to obtain an etiologic diagnosis. SETTING: Genetics Specialized Medical Center, Lima, Peru. MATERIAL AND METHODS: The proposed fluxogram is based on the study of 27 cases of non-immune fetal hydrops referred for chromosome analysis during the past ten years. Cytogenetic results, the evolution of the pregnancies, ultrasonographic images and pathologic studies were reviewed. Chromosome analysis were performed in 25 cases: 18 in amniotic fluid, 9 in chorionic villi and 2 in blood of the newborn. RESULTS: Eleven 11 (44%) cases had chromosomal abnormalities: 6, Turner syndrome; 3, trisomy 21; 1, trisomy 13, and 1, trisomy 7. The pathology of the placenta suggested infection in 2 cases. In one of these, the karyotype was normal, male; in the other, the cell culture was unsuccessful. In other cases with normal...

INTRODUCTION. Early prenatal diagnosis of chromosomal anomalies requires invasive techniques such as amniocentesis and chorionic villous sampling. We present our experience and the predictive value of ultrasonographic risk markers. DESIGN. Descriptive, transversal study. SETTING. Instituto Latinoamericano de Salud Reproductiva, Lima, Peru. BIOLOGIC SAMPLES. Amniotic fluid and placenta. INTERVENTIONS. We analyzed the results of 163 amniocentesis and 12 chorionic villous sampling performed at our institute between January 2003 and September 2007. MAIN OUTCOME MEASURES. Chromosome anomalies. RESULTS. The most frequent indication for prenatal invasive techniques was maternal age above 38 years; 48 (27,9%) of the samples obtained were positive for chromosomal anomalies and trisomy 21 the most common finding. The highest frequency of chromosomal anomalies was found in pregnancies with more tha...

Regulation of blood pressure depends on complex mechanisms that include multiple genetic and epigenetic variations. There is a delicate balance between genetic, epigenetic and environmental factors that, when disrupted, lead to hypertension. In most cases blood hypertension is primary or essential, and rarely is inherited through mutation of a single gene. This review will focus on genes involved in multifactorial blood hypertension and in the rare cases of monogenic hypertension. The pharmacogenomic advances and perspectives in the era of genomic medicine will also be reviewed.

Obesity is becoming epidemic in many countries, and includes urban areas of Peru. Various studies try to elucidate the factors that contribute to this dangerous epidemic that has an evident genetic component. In this review we try to summarize what is currently known with respect to genetics in obesity.

Genetic medicine is a rapidly developing specialty, which in recent years has undergone a real conceptual revolution and a notable increase in the diagnostic capacity at the level of chromosomes, genes and molecules. Advances in genetic influence in almost all medical specialties, but is in gynecology and obstetrics where this relationship is closer and meaningful.

Preeclampsia is a multifactorial and complex condition whose etiology continues in study.Identification of genes involved in preeclampsia may lead to markers that may predict and/ordetect preeclampsia, and the discovery of specific and personalized treatments.Keywords: Preeclampsia, genetics.

OBJECTIVES: To describe the frequency of chromosome anomalies in spontaneous abortions, the influence of maternal and gestational age, and the application of this knowledge in obstetrical practice, and in future pregnancies management. DESIGN: Descriptive transversal study. SETTING: Genetics Medical Institute, Lima, Peru. MATERIALS: Spontaneous abortions samples recieved for study between 1995 and 2007. INTERVENTIONS: Data of 1088 spontaneous abortions samples were obtained and karyotype, maternal age and gestational age were analyzed. MAIN OUTCOME MEASURES: Karyotype normality or abnormality, maternal age. RESULTS: Karyotype was normal in 332 (30,5%) of the 1088 samples and abnormal in 756 (69,5%). Among chromosomal anomalies, aneuploidy showed a frequency of 60,3%, polyploidy, 16,4%, and X monosomy, 9,5%. Prevalence of aneuploidy rose with maternal age. CONCLUSIONS: Cytogenetic study o...

Miscarriages without chromosome abnormalities are difficult to deal with. A normal karyotype does not rule out the genetic origin of a pregnancy loss. Mutations of certain genes that intervene in immunologic, coagulation, metabolic and implantation processes among others could cause spontaneous abortions. This review would show the most recent research in these fields. Also, we discuss how perinatal mortality and congenital malformations should be approached in order to obtain an appropriate diagnosis and offer genetic counseling.

Non-invasive prenatal test (NIPT) is a screening method that identifies pregnant women with a high aneuploidy risk, specifically for trisomy 21, 18, 13, and chromosome X anomalies. NIPT analyzes free fetal DNA found in maternal blood. In this review, we describe the benefits, disadvantages and study indications.

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Se presenta un paciente con trisomía de la parte distal del brazo largo del cromosoma 13, fenotipo característico y retardo mental. El caso ilustra la necesidad de buscar anomalías cromosómicas “menores” en pacientes con retardo mental, aunque los rasgosdismórficos sean leves y no típicos de anomalías cromosómicas conocidas.

Preeclampsia is a multifactorial and complex condition whose etiology continues in study.Identification of genes involved in preeclampsia may lead to markers that may predict and/ordetect preeclampsia, and the discovery of specific and personalized treatments.Keywords: Preeclampsia, genetics.

OBJECTIVES: To describe the frequency of chromosome anomalies in spontaneous abortions, the influence of maternal and gestational age, and the application of this knowledge in obstetrical practice, and in future pregnancies management. DESIGN: Descriptive transversal study. SETTING: Genetics Medical Institute, Lima, Peru. MATERIALS: Spontaneous abortions samples recieved for study between 1995 and 2007. INTERVENTIONS: Data of 1088 spontaneous abortions samples were obtained and karyotype, maternal age and gestational age were analyzed. MAIN OUTCOME MEASURES: Karyotype normality or abnormality, maternal age. RESULTS: Karyotype was normal in 332 (30,5%) of the 1088 samples and abnormal in 756 (69,5%). Among chromosomal anomalies, aneuploidy showed a frequency of 60,3%, polyploidy, 16,4%, and X monosomy, 9,5%. Prevalence of aneuploidy rose with maternal age. CONCLUSIONS: Cytogenetic study o...

Genetic medicine is a rapidly developing specialty, which in recent years has undergone a real conceptual revolution and a notable increase in the diagnostic capacity at the level of chromosomes, genes and molecules. Advances in genetic influence in almost all medical specialties, but is in gynecology and obstetrics where this relationship is closer and meaningful.

Miscarriages without chromosome abnormalities are difficult to deal with. A normal karyotype does not rule out the genetic origin of a pregnancy loss. Mutations of certain genes that intervene in immunologic, coagulation, metabolic and implantation processes among others could cause spontaneous abortions. This review would show the most recent research in these fields. Also, we discuss how perinatal mortality and congenital malformations should be approached in order to obtain an appropriate diagnosis and offer genetic counseling.

Genetic study of gemelarity is a learning continuum. Intense research has not yet determined genes intervening and leading to blastocyst division that originate two identical individuals but possible mechanisms are unveiled as well as differences between monozygotic and dizygotic twins.