RESUMO
INTRODUCTION Antenatal cytogenetic testing was started in Havana in 1984, as a diagnostic option for fetal chromosome complement. The techniques applied are amniocyte culture, chorionic villus sampling, cordocentesis and fluorescence in situ hybridization in interphase cells. OBJECTIVE Describe the results of antenatal cytogenetic testing in the cytogenetic laboratory of the Cuba's National Medical Genetics Center in Havana, from 1984 through 2012. METHODS A retrospective descriptive study was carried out of the 22,928 pregnant women who had antenatal testing with conclusive results during the period 1984-2012. Information was obtained from laboratory databases for four antenatal diagnostic techniques. Variables studied were: antenatal diagnostic method, indications for genetic testing, type of chromosomal abnormality detected and couple's decision concerning pregnancy continuation if hereditary disease was diagnosed. Results were reported in absolute numbers and percentages. RESULTS Overall positivity was 2.8% (641 cases). Of the total, 20,565 samples were from amniocyte culture (558 positive cases, 2.7%); 1785 chorionic villus sampling (38 positive, 2.1%); 407 cord blood culture (28 positive, 6.9%); and 171 fluorescence in situ hybridization in interphase cells (17 positive, 9.9%). Advanced maternal age was the predominant indication for amniocyte culture and chorionic villus sampling. Positivity was higher for the two less frequently used methods, cordocentesis (6.9% positivity) and fluorescence in situ hybridization (9.9%). The predominant chromosomal abnormality was Down syndrome, with 45.4% of cases detected (291/641; 279 pure lines and 12 mosaic trisomies), followed by Edward syndrome with 12% (77/641, 71 pure lines and 6 mosaics) and Patau syndrome 4.7% (30/641, 27 pure lines and 3 mosaics). Sexual aneuploidy with pure lines affected 6.9% of cases (44/641) and with mosaicism 4.7% (30/641). Structural chromosomal abnormalities were detected in 22.5% of cases (144/641); of these, 70.8% (102/144) were balanced and 29.2% (42/144) unbalanced. In 78.6% of cases (504/641) with chromosomal abnormalities, whether mosaic or pure, the couple opted to terminate pregnancy. CONCLUSIONS Antenatal cytogenetic testing has helped reduce chromosomal abnormalities, mainly in Havana, and has provided reassurance of chromosomally normal children for couples at high genetic risk. The percentage of continuing pregnancies after a diagnosis of major chromosomal abnormality has been low, supporting evidence of broad population acceptance of abortion as an option when severe genetic abnormalities are present.
Assuntos
Transtornos Cromossômicos/diagnóstico , Análise Citogenética , Diagnóstico Pré-Natal , Algoritmos , Aberrações Cromossômicas/estatística & dados numéricos , Transtornos Cromossômicos/epidemiologia , Cuba/epidemiologia , Análise Citogenética/métodos , Análise Citogenética/estatística & dados numéricos , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Gravidez , Estudos RetrospectivosRESUMO
Introducción: El incremento del consumo de oxígeno y del flujo sanguíneo cerebral, así como de la presión intracraneal son los efectos adversos, que limitan el uso de la ketamina en anestesia neuroquirúrgica; sin embargo, actualmente se reexamina su uso, al tener como fundamento su efecto neuroprotector. Material y método: Se estudiaron 40 pacientes intervenidos quirúrgicamente por craniotomía con diagnóstico de tumores supratentoriales, los cuales recibieron una anestesia total intravenosa, en la que se empleó alternativamente fentanil o ketamina para asegurar la analgesia en cada grupo. Se registró la presión arterial de dióxido de carbono (PaCO2), saturación venosa yugular de oxígeno (SvyO2), diferencia arteriovenosa yugular de oxígeno (DavyO2), extracción cerebral de oxígeno (ECO2) y tasa metabólica cerebral (TMC). Resultados: La presión arterial de dióxido de carbono descendió progresivamente en ambos grupos mientras se registro un ascenso de la saturación venosa yugular de oxígeno en el transcurso del acto anestésico, acompañado de un descenso de la diferencia arteriovenosa yugular de oxígeno, extracción cerebral de oxígeno y tasa metabólica en los grupos estudiados sin que se constataran diferencias significativas entre estos en los diferentes momentos estudiados (p> 0,05). Conclusiones: El clorhidrato de ketamina a dosis analgésicas puede ser utilizado de forma segura en anestesia neuroquirúrgica para tumores supratentoriales, sin que provoque un incremente el metabolismo cerebral.
Introduction: Increasing consumption of oxygen and of cerebral blood flow, as well as of intracranial pressure, are adverse effects limiting the use of Ketamine hydrochloride in neurosurgical anesthesia; however, nowadays its use is reassessed because of its main principle is the neuroprotection. Material and Methods: Authors studied 40 patients operated on by craniotomy diagnosed with supratentorial tumors which had intravenous total anesthesia combined with Fentanyl and Ketamine hydrochloride to secure analgesia in each group. We registered the arterial carbon dioxide tension (PaCO2), oxygen jugular venous saturation (SvyO2), oxygen jugular arteriovenous difference (DavyO2), oxygen cerebral extraction (ECO2), and the cerebral metabolic rate (CMT). Results: The arterial tension of carbon dioxide fall progressively in both groups while there was a rise of oxygen jugular venous saturation during anesthetic procedure with a fall of oxygen jugular arteriovenous difference, oxygen cerebral extraction, and metabolic rate in the study groups without presence of significant differences in different study times (p < 0,05). Conclusions: Ketamine hydrochloride in analgesic doses may be used in a safe way in neurosurgical anesthesia for supratentorial tumors, without increase in cerebral metabolism.