Alteraciones citogenéticas en gestantes con edad avanzada. Granma. 2016-2018 / Cytogenetic alterations in pregnant women with advanced age. Granma 2016-2018 / Alterações citogenéticas em gestantes com idade avançada. Granma 2016-2018

RESUMEN Uno de los riesgos asociados al embarazo es la edad materna avanzada, la cual es considerada en nuestro país, a partir de los 35 años de edad. En la actualidad, constituye el principal motivo de indicación para el diagnóstico prenatal citogenético (DPC). Se realizó un estudio descriptivo transversal, con el objetivo de describir la frecuencia de las alteraciones citogenéticas en gestantes con avanzada edad en la provincia Granma en el período de 2016 a 2018. La muestra estuvo constituida por 803 gestantes de 37 años y más a las que se le realizó el diagnóstico prenatal citogenético por amniocentesis entre las 16 y 20 semanas de acuerdo a la fecha de la última menstruación (FUM) o por ultrasonido del primer trimestre en las gestantes con FUM dudosa. Los estudios citogenéticos en el líquido amniótico dirigidos a mujeres de edad materna avanzada están establecidos en nuestro país a las gestantes que tengan≥ 37 años ya que se considera el grupo poblacional de mayor riesgo. En el período estudiado se realizaron 803 estudios citogenéticos. Durante estos tres años de trabajo se obtuvo un 2,6% de resultados positivos, dentro de ellos 57,1% corresponden a aberraciones numéricas y 42,9% a estructurales. Bayamo (52,4%) resultó el municipio con mayor número de casos positivos.

ABSTRACT One of the risks associated with pregnancy is advanced maternal age, which is considered in our country, from 35 years of age. At present, it constitutes the main reason for indication for cytogenetic prenatal diagnosis (CPD). A descriptive cross-sectional study was carried out, with the objective of describing the frequency of cytogenetic alterations in pregnant women with advanced age in the province of Granma in the period from 2016 to 2018. The sample consisted of 803 pregnant women aged 37 years and older at whom the cytogenetic prenatal diagnosis was made by amniocentesis between 16 and 20 weeks according to the date of the last menstruation (FUM) or by ultrasound of the first trimester in pregnant women with doubtful FUM. Cytogenetic studies in amniotic fluid aimed at women of advanced maternal age are established in our country to pregnant women who are ≥ 37 years old since it is considered the population group with the highest risk. In the period studied, 803 cytogenetic studies were performed. During these three years of work, 2.6% of positive results were obtained, 57.1% of which correspond to numerical aberrations and 42.9% to structural ones. Bayamo (52.4%) was the municipality with the highest number of positive cases.

RESUMO Um dos riscos associados à gravidez é a idade materna avançada, considerada em nosso país a partir dos 35 anos de idade. Atualmente, constitui o principal motivo de indicação para o diagnóstico pré-natal citogenético (DPC). Foi realizado um estudo transversal descritivo, com o objetivo de descrever a frequência de alterações citogenéticas em gestantes com idade avançada na província de Granma no período de 2016 a 2018. A amostra foi composta por 803 gestantes com 37 anos ou mais de idade, nas quais o diagnóstico citogenético pré-natal foi realizado por amniocentese entre 16 e 20 semanas, de acordo com a data da última menstruação (FUM) ou por ultrassom do primeiro trimestre em gestantes com FUM duvidoso. Estudos citogenéticos em líquido amniótico direcionados a mulheres em idade materna avançada são estabelecidos em nosso país para gestantes com idade ≥ 37 anos, uma vez que é considerado o grupo populacional de maior risco. No período estudado, foram realizados 803 estudos citogenéticos. Durante esses três anos de trabalho, foram obtidos 2,6% de resultados positivos, 57,1% dos quais correspondem a aberrações numéricas e 42,9% a estruturais. Bayamo (52,4%) foi o município com o maior número de casos positivos.

Clinical Analysis of Prenatal Cytogenetic Diagnoses: Four-year Experience at Asan Medical Center / 대한산부인과학회잡지

OBJECTIVE: To review and evaluate a total of 2,372 cases of prenatal cytogenetic diagnoses at Asan Medical Center from 1999 to 2002. METHODS: We reviewed the medical records of the patients in whom the procedure for prenatal cytogenetic diagnosis was performed. A total of 1780 cases of amniocentesis, 455 cases of cordocentesis, and 137 cases of chorionic villus sampling were analyzed. The cytogenetic results, indications for prenatal cytogenetic diagnoses, maternal ages, and the profiles of abnormal karyotypes were reviewed. We calculated the positive predictive value of each indication for abnormal fetal karyotypes and evaluated a factor that was the most sensitive marker for abnormal fetal karyotypes. RESULTS: Among the 2,372 cases of prenatal cytogenetic diagnoses, abnormal karyotypes were identified in a total of 158 cases (6.7%). The most frequent indication for prenatal cytogenetic diagnosis was abnormal maternal serum screening (33.9%), followed by ultrasonographic abnormality (22.9%) and old age (20.0%). No significant difference was found between mean maternal age with and without abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms (31.9 +/- 5.3 vs. 32.1 +/- 4.5 years). Among the 92 cases of abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms, the most frequent indication for prenatal cytogenetic diagnosis was ultrasonographic abnormality (58.7%), followed by abnormal maternal serum screening (10.9%). The positive predictive value of ultrasonographic abnormality for abnormal fetal karyotype was 9.9%. CONCLUSION: Among the several indications for prenatal cytogenetic diagnosis, ultrasonographic abnormality could be the most predictive marker for abnormal fetal karyotypes.

The effect of genetic counseling on performance of prenatal cytogenetic diagnosis

Currently the number of pregnant women who have indications for, but do not receive, prenatal cytogenetic diagnosis is increasing. The purpose of this study was to review the prenatal cytogenetic services and to analyze the effect of genetic counseling on performance of the prenatal cytogenetic test. From January 1987 to July 1988, there were 2,796 deliveries at Severance Hospital, Yonsei Medical Center, of which 126 patients had indications for prenatal cytogenetic diagnosis. Chromosomal abnormalities were found in 5 patients (1, monosomy X; 1, trisomy 18; and 3, trisomy 21). Four patients were found in the group who had indications for prenatal cytogenetic diagnosis while only one was found in the group who did not (p less than 0.01). The most common indication for prenatal cytogenetic diagnosis was advanced maternal age (59%). The prenatal test rate was highest in patients whose indications were a previous child with chromosomal abnormality (100%) and parental translocation carrier (100%). Most (89%) of the patients were tested by amniocentesis between the 16th and 20th week of gestation. The two most common reasons for patients not receiving a prenatal cytogenetic diagnosis were late registration (41%) and absence of genetic counseling (34%).