Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome.@*METHODS@#A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022.@*RESULTS@#For the 33-year-old pregnant woman, ultrasonography at 22+6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47,XX,+12[1]/46,XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes.@*CONCLUSION@#Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.

Amniocentesis para estudio citogenético y sus principales indicaciones en La Habana, Cuba (2007 - 2016) / Amniocentesis for Cytogenetic Study and Its Main Indications in Havana, Cuba (2007 - 2016)

RESUMEN Introducción: El diagnóstico prenatal de alteraciones cromosómicas en Cuba se inició en La Habana en 1984, mediante análisis del líquido amniótico obtenido por amniocentesis en el segundo trimestre del embarazo. En 1987 se introdujo el diagnóstico por análisis de vellosidades coriónicas en el primer trimestre, como parte de un subprograma dentro del Programa Nacional de Diagnóstico y Prevención de Enfermedades Genéticas dirigido por el Centro Nacional de Genética Médica. Objetivo: Demostrar que la edad materna avanzada sigue siendo la principal indicación de estudio citogenético en las gestantes de alto riesgo en la provincia de La Habana. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal que abarcó 12 909 historias clínicas de gestantes a las que se realizaron amniocentesis, indicadas en la consulta del Centro Provincial de Genética Médica de la Habana, en el período comprendido entre enero 2007 y diciembre 2016. Se analizaron diferentes parámetros relacionados con la cantidad de casos por años según diferentes criterios y se calculó la sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo de la edad materna como predictor de la ocurrencia de anomalías cromosómicas. Resultados: El principal criterio de indicación del estudio invasivo lo constituyó la edad materna avanzada con 82 por ciento de los casos, mostrando una sensibilidad de 86 por ciento y una tasa de falsos positivos que alcanzó el 95,85 por ciento. Sería de utilidad actualizar el subprograma de diagnóstico prenatal mediante herramientas que permitan recalcular el riesgo a priori, a un riesgo individualizado y reclasificar la población de alto riesgo genético. Conclusiones: A partir del estudio realizado se puede concluir que la avanzada edad materna constituye el principal criterio de indicación para estudio citogenético por amniocentesis en las gestantes de alto riesgo de La Habana(AU)

ABSTRACT Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics. Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana. Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities. Results: The main criterion for indicating this invasive study was the advanced maternal age in 82 percent of cases, showing 86 percent of sensitivity and 95.85 percent false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be recalculated a priori to an individualized risk and to reclassify the population in high genetic risk. Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana(AU)

Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río / Results of an invasive prenatal study for the diagnosis of aneuploidy at Hospital Sótero del Río

ANTECEDENTES: Las aneuploidías y malformaciones congénitas son causa importante de morbi-mortalidad perinatal e infantil en Chile. OBJETIVO: Evaluar la realidad local del diagnóstico genético antenatal para mejorar el resultado perinatal. MÉTODOS: Estudio retrospectivo y descriptivo. Se realizó amniocentesis a embarazadas con indicación de estudio genético prenatal por sospecha ecográfica de alteraciones cromo-sómicas, entre octubre de 2010 y marzo de 2015, en el Hospital Sótero del Río. RESULTADOS: Los hallazgos ecográficos más frecuentes fueron: cardiopatías congénitas, malformaciones del sistema nervioso central y restricción de crecimiento fetal precoz. 164 pacientes aceptaron el estudio invasivo antenatal, obteniéndose resultados de 154. El promedio de edad materna y edad gestacional del examen fueron 30 años y 27+3 semanas, respectivamente. En embarazos con trisomía 21 y 13, el 71% de las pacientes tenía sobre 35 años. Un 31% de las muestras presentaron cariotipo anormal, siendo la más frecuente la trisomía 21 (14%), trisomía 18 (9%), monosomía X (4,5%) y trisomía 13 (2,6%). CONCLUSIÓN: El diagnóstico genético prenatal permite un adecuado manejo perinatal, coordinación apropiada entre las unidades de Obstetricia y Neonatología, y la preparación de las pacientes y sus familias para un pronóstico perinatal adverso.

BACKGROUND: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. AIMS: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. METHODS: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. RESULTS: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71% of patients were higher than 35 years. 31% of the samples had abnormal karyotype: trisomy 21 (14%), trisomy 18 (9%), Turner's syndrome (4.5%) and trisomy 13 (3%). CONCLUSIONS: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.

Importância do estudo genético pré-natal / Importance of prenatal genetic diagnosis

O desenvolvimento de técnicas, como o cariótipo e ensaios enzimáticos em células fetais, a determinação de metabólitos no líquido amniótico e a ultrassonografia, propiciaram o diagnóstico pré-natal de desordens genéticas. A investigação genética pré-natal permite a detecção, ainda no útero, de doenças que, de outra forma, somente seriam diagnosticadas após o nascimento. Diversas técnicas são utilizadas para avaliação do estado fetal, algumas como a biópsia de vilos coriais, a amniocentese e a cordocentese. Com desenvolvimento tecnológico, novas técnicas moleculares foram desenvolvidas apresentando-se de forma mais refinada e de rápido resultado. A utilização dessas técnicas é fundamental para o desenvolvimento fetal, podendo então indicar uma conduta adequada para cada caso. Dessa forma, o conhecimento e a aplicação da genética clínica, utilizando o aconselhamento genético, trazem a certeza de um bom acompanhamento pré-natal necessário à assistência médica.

The development of techniques, such as karyotype and enzymatic assay in fetal cells, the determination of metabolites in amniotic liquid and the ultrasonography, allowed prenatal diagnosis of genetic disorders. The prenatal genetic investigation allowed the detection, in the womb, of diseases that, in other way, just could be diagnosed after birth. Many techniques are used to fetal state assessment, some of them such as villi cori biopsy, the amniocentesis and cordocentesis. Through the technological development, new molecular techniques were developed. They present a more refined and fast results. The use of these techniques is fundamental to fetal development, enabling the use of adequate conduct in each case. In this way, the knowledge and application of genetic clinic, using genetic counseling, bring the certainty of a good prenatal care, which is necessary to medic assistance.

Hallazgos ecográficos en fetos con alteraciones cromosómicas / Ecographic findings in fetus with cromosomal alterations

Describir los hallazgos ecográficos detectados en los fetos y su relación con el cariotipo anormal obtenido en las amniocentesis genéticas realizadas en el segundo trimestre. Se revisaron todos los informes de los estudios ecográficos realizados previamente a la amniocentesis de los fetos que resultaron con cromosomopatías durante el año 2006. Centro Nacional de Genética Humana y Experimental. Universidad Central de Venezuela. Caracas. En 1786 amniocentesis, se obtuvieron 32 fetos (1,79 por ciento) con cromosomopatías, siendo la trisomía 21 la más frecuente (47 por ciento). De todos los casos con alteraciones cromosómicas 15 fetos (46,9 por ciento) tuvieron uno o más marcadores ecográficos. Los hallazgos ecográficos encontrados en el grupo general fueron pliegue nucal engrosado en 40 por ciento, higroma quístico en 19,5 por ciento, ectasia pielocalicial en 12,5 por ciento, e intestino hiperecogénico, ausencia de hueso nasal, foco ecogénico intracardíaco y pie equino varo, cada uno en un 7 por ciento. Un 53 por ciento de los fetos con trisomía 21 presentaron algún tipo de hallazgo ecográfico anormal, así mismo un 67 por ciento de los fetos con trisomía 18 y 100 por ciento de los fetos que tenían monosomía X, trisomía 22 y triploidía. El ultrasonido juega un papel muy importante en el diagnóstico prenatal. El diagnóstico apropiado de las anomalías estructurales y hallazgos menores, incrementa la sospecha de alguna alteración cromosómica y puede sugerir la realización de procedimientos invasivos de diagnóstico prenatal

To describe the abnormalities detected by detailed second trimester ultrasonography among the fetuses with abnormal karyotype after amniocentesis. Ultrasound studies belonging to fetuses with diagnosed chromosomal anomalies in 2006 were reviewed. Centro Nacional de Genética Humana y Experimental. Universidad Central de Venezuela. Caracas. A total of 1,786 patients underwent amniocentesis with a result of 32 (1.79 percent) fetuses detected with an abnormal karyotype, trisomy 21 (47 percent). Out of all cases with chromosomal anormalies 15 fetuses (46.9 percent) had one or more sonographic markers. Ultrasound markers were: increased nucal fold 40 percent , cystic hygroma (19.5 percent) , pyelectasis 12.5 percent, and echogenic bowel, absent nasal bone, echogenic intracardiac foci and club foot (7 percent) each one. A 53 percent of fetuses with trisomy 21 had some adnormal sonographic marker, as well as 67 percent of trisomy 18 and 100 percent of fetuses with X0, trisomy 22 and triploidy. The second trimester ultrasound plays an important role in prenatal diagnosis. The appropriate detection of structural anomalies and sonographic markers increase the diagnosis of aneuploidies and can suggest the necessity to practice an invasive study

Maturidade pulmonar fetal em gestações complicadas por diabete ou hiperglicemia leve / Fetal lung maturity in pregnancies complicated by diabetes or mild hyperglycemia

Introdução: O atraso na maturidade bioquímica pulmonar fetal em gestações complicadas por diabete é descrito na literatura, por mecanismos ainda não esclarecidos. Alguns investigadores sugerem que a hiperglicemia e o hiperinsulinismo fetal seriam os responsáveis por essa complicação, pois a quantidade e qualidade do surfactante pulmonar é normal quando o controle glicêmico é adequado. Atualmente, a Síndrome do Desconforto Respiratório (SDR) é complicação rara em recém-nascidos de termo, filhos de mães diabéticas. Mas, ainda há dúvida sobre o comportamento do sistema surfactante nos recém-nascidos, de pré-termo, especialmente, na presença de hiperglicemia não-controlada. Essas observações são também validadas nas gestantes portadoras de hiperglicemia leve, com risco de eventos perinatais adversos, comparável ao das gestantes diabéticas. As secreções do pulmão fetal contribuem na composição do líquido amniótico e a quantidade de surfactante pulmonar pode ser estimada pela medida do surfactante no líquido amniótico. A amniocentese para avaliação da maturidade pulmonar fetal tem sido utilizada em gestações de risco, inclusive nas complicadas por diabete ou hiperglicemia leve. Em nosso meio, os testes utilizados na avaliação da maturidade pulmonar fetal no líquido amniótico são o Clements, a densidade óptica a 650nm (DO650nm) e a contagem de corpúsculos lamelares (CCL). Objetivos: Avaliar o desempenho de testes de maturidade pulmonar fetal-Clements, DO650nm e CCL; determinar a influência da qualidade do controle glicêmico materno nos resultados destes testes, nas gestações complicadas por diabete ou hiperglicemia leve...

Cervical Length and the Risk of Microbial Invasion of the Amniotic Cavity in Women with Preterm Premature Rupture of Membranes

The aims of this study were to determine whether sonographically measured cervical length is of value in the identification of microbial invasion of the amniotic cavity in women with preterm premature rupture of membranes (PPROM) and to compare its performance with maternal blood C-reactive protein (CRP), white blood cell count (WBC), and amniotic fluid (AF) WBC. This prospective observational study enrolled 50 singleton pregnancies with PPROM. Transvaginal ultrasound for measurement of cervical length was performed and maternal blood was collected for the determination of CRP and WBC at the time of amniocentesis. AF obtained by amniocentesis was cultured and WBC determined. The prevalence of a positive amniotic fluid culture was 26% (13/50). Patients with positive amniotic fluid cultures had a significantly shorter median cervical length and higher median CRP, WBC, and AF WBC than did those with negative cultures. Multiple logistic regression indicated that only cervical length had a significant relationship with the log odds of a positive AF culture. Transvaginal sonographic measurement of cervical length is valuable in the identification of microbial invasion of amniotic cavity in women with PPROM. Cervical length performs better than AF WBC, maternal blood CRP, and WBC in the identification of a positive amniotic fluid culture.

Amniocentesis: técnica e indicaciones / Amniocentesis: techniques and indications

En obstetricia los procedimientos invasivos nacen de la necesidad de acoger al feto como paciente en su época prenatal, por esta razón, y de la mano del desarrollo tecnológico, han tenido un desarrollo vertiginoso en el curso de los últimos años. La amniocentesis es el procedimiento diagnóstico invasivo prenatal más usado en la actualidad. En países del primer mundo, es una práctica común de la rutina obstétrica, siendo su principal objetivo la búsqueda de algunas malformaciones genéticas. Sin embargo, en el curso de los últimos años, ha demostrado disminuir la mortalidad perinatal y las secuelas neurológicas en el síndrome de parto prematuro y en la rotura prematura de membranas. Además se ha utilizado en forma terapéutica en el síndrome de transfusión feto-fetal (amniodrenaje). En este trabajo se revisan algunas de las indicaciones, complicaciones y beneficios de la técnica.

Can fetal echocardiogram and karyotyping be fairly offered for fetal umbilical cord abnormalities?

A prospective study to determine if fetal echocardiography and karyotyping by amniocentesis are strongly indicated in fetus with single umbilical artery [SUA]? During the period from March 2002-September 2006 all cases of fetal SUA, from Security Forces Hospital, Riyadh, Kingdom of Saudi Arabia, in a routine obstetric population were studied. Targeted sonograms and perinatal follow up were obtained. Sixteen thousand women completed the study, 162 cases of SUA were diagnosed on the basis of prenatal sonograms, however 169 cases [53 non isolated SUA and 116 isolated SUA] confirmed postnatafly. The sensitivity, specificity, positive predictive value and negative predictive value of prenatal ultrasonographic diagnosis of SUA were 90.5%, 99.9%, 94.4% and 99.8% respectively. Aneuploidy and cardiac abnormalities were present in 8 out of the 53 [15%] and 17/53 [32%] In none isolated SUA respectively. fetuses with SUA should get further evaluation at centers that handle high-risk cases and parent should strongly counseled for fetal echocardiogram and fetal karyotyping In case of none isolated SUA

Rubéola na gestação: transmissão vertical avaliada por PCR e resultados perinatais / Rubella in pregnancy: evaluation of vertical transmission by PCR and perinatal outcome

Realizou-se estudo prospectivo em 80 pacientes com rubéola durante a gestação com o objetivo de avaliar os resultados perinatais, a taxa de transmissão vertical e a pesquisa viral utilizando-se da técnica do RT-PCR. A amniocentese foi oferecida às pacientes que apresentaram quadro clínico até 11 semanas e 6 dias de gestação. Ocorreram 5 abortamentos e 4 óbitos fetais e sete recém-nascidos apresentaram IgM positiva. A avaliação auditiva estava alterada em 3 casos e o fundo de olho em 2./ We performed a prospective study with 80 patients with rubella, during the gestational period, with the aim of evaluating perinatal outcome, vertical transmission rate and viral detection by the use of RT-PCR technique. Patients who presented the clinical features until 12 weeks and 6 days of gestation were submitted to amniocentesis...

Role of multicolor fluorescence in situ hybridization (FISH) in simultaneous detection of probe sets for chromosome 18, X and Y in uncultured amniotic fluid cells

Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The purpose of this study was to evaluate the role of multicolor fluorescence in situ hybridization in simultaneous detection of probe sets for chromosome 18, X, and Y in uncultured amniotic fluid cells as a safer alternative method for aneuploidy detection prenatally. Fifty amniotic fluid samples were analyzed by FISH and standard cytogenetics. Mean time to obtain results was three days for fluorescence in situ hybridization and 20 days for karyotype. Fluorescence in situ hybridization was informative in 43 samples (86%), and within this group, two aneuploidies were correctly identified. This evaluation demonstrates that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory.

Prenatal diagnosis of thalassemia in Songklanagarind Hospital in southern Thailand.

A thalassemia screening program for pregnant women has been established in Songklanagarind Hospital since 1992. After genetic counseling, a total of 5078 pregnant women accepted entry into a screening program for thalassemia. Couples at risk who should receive prenatal diagnosis were 2.8%. Total cases who accepted prenatal diagnosis were 135. Total clinical cases were 40 (29.6%) with achievement by prenatal diagnosis of 33 cases (82.5%). Genetic amniocentesis is the most acceptable method for prenatal diagnosis. Five cases (12.5%) were misdiagnosed due to contamination of maternal blood cells in amniotic fluid cases. Questionable results were reported in 2 cases (5%). Abortion occurred in one case (0.7%). Improvement of surgical technic in prenatal diagnosis reduced the complications and contamination of maternal cells. This program shows the feasibility of prevention and control of thalassemia disease in southern Thailand.

Amniocentesis genética precoz / Early genetic amniocentesis

Entre febrero de 1992 y abril de 1973 se realizaron 38 amniocentesis entre las 12 y 14 semanas. El objetivo fue evaluar los riesgos, beneficios y evolución del embarazo y compararlos con 35 pacientes con amniocentesis después de las 15 semanas. La cantidad promedio de líquido amniótico extraído fue de 20,4 ml en el grupo control y de 16,4 ml en el precoz. El efecto tienda se presentó en un 25,6 por ciento del mismo. No se encontró alterada la evaluación del embarazo ni el peso y talla de los recién nacidos con la amniocentesis precoz. Se concluye que la amniocentesis realizada precozmente es una opción válida para el diagnóstico genético prenatal

Value of direct film, amniotic fluid glucose concentration and non stress test in predicting chorioamnionitis in preterm premature rupture of membranes

The aim of this study was to evaluate the diagnostic value of direct film examination, estimation of amniotic fluid glucose level and non-stress test [NST] as rapid and simple tests in the early diagnosis of intramiotic infection in cases with preterm premature rupture of membranes [PROM]. The study included 30 pregnant female patients with PROM and no clinical evidence of chorioamnioitis. Amniotic fluid culture revealed the presence of microorganisms in 17 cases [56.7%] with Mycoplasma species and Listeria monocytogenes being the most commonly isolated organisms [35.3% and 23.5% respectively]. Direct film showed very sensitivity with 100% specificity. The sensitivity and specificity of amniotic fluid glucose concentration

La pratique de l'amniocentese tardive sans echographie prelable dans la prise de decision concernant les grossesses a risque a Cotonou : a propos de 68 cas

Cette etude rappelle la technique de l'amniocentese tardive realisee sans localisation placentaire echographique prealable. Cette technique realisable dans n'importe quel service de gynecologie ne disposant pas d'un echographe; constitue un element de prise de decision dans les cas de grossesse a risque eleve. Sur un total de 68 amniocenteses le taux d'echec a ete de 14;7 pour cent avec 4 ponctions blanches et 6 ponctions sanglantes. Cette amniocentese a ete determinante dans 10 cas sur 16 grossesses d'age gestationnel compris entre 34 et 36 S.A

Prenatal diagnosis of chromosomal disorders in Delhi.

Prenatal diagnosis of chromosomal disorders was carried out in 144 samples of amniotic fluid during 1986-1989. The commonest indication was pregnancy in women having a previous child with Down syndrome. Cultures were successful in 104 (72.2%) of 144 cases. Three (2.9%) abnormal karyotypes were detected. Of 53 women who had a previous child with Down syndrome, recurrence of trisomy 21 occur d in one (1.9%); while considering all abnormal karyotypes, there were three recurrences (2.9%).

Pruebas de madurez fetal en el líquido amniótico / Fetal test maturity in the amniotic fluid

La presente obra intenta llenar un vacio en el laboratorio perinatal, donde hasta ahora las diversas técnicas destinadas a evaluar la madurez fetal eran usadas y aprendidas a través de los profesionales que las realizaban en sus laboratorios. Se pretende con este volumen poner al alcance de los estudiantes y profesionales de la salud técnicas más conocidas y que determinen la madurez del feto

Maduración pulmonar en el embarazo gemelar / Lung maturity in the twin pregnancy

En treinta pacientes con embarazo gemelar se realizó amniocéntesis de ambos sacos ovulares para estudiar la madurez pulmonar fetal utilizando la técnica de Clements. En diez de los casos se identificaron previamente ambos sacos. se plantea la posibilidad de que no sea necesaria la técnica de identificación de ambos sacos, pues la obtención del líquido de uno de ellos resulta suficiente para llegar a conclusiones prácticas, ya que el sistema pulmonar fetal madura paralelamente en ambos gemelos y la presencia de tres tubos de dilución positivos en uno de los líquidos debe excluir la posibilidad del síndrome de dificultad respiratoria en los recién nacidos

Rotura prematura de membranas: evaluación y diagnóstico / Premature rupture of membranes: evaluation and diagnosis

Se realiza revisión bibliográfica sobre ruptura prematura de las membranas. Se consideran evaluaciones clínicas, así como procedimientos bacteriológicos, citológicos y bioquímicos, hechos en el líquido amniótico, obtenido por diferentes métodos, incluyendo amniocentesis, con sl fin de determinar en fase temprana la mnionitis y/o madurez fetal, con el fin de poder decidir oportuna y adecuadamente, la inducción de parto y evitar complicaciones en el neonato

Pruebas de madurez fetal en el líquido amniotico de diabéticas / Fetal maturity tests in amniotic fluid of diabetic patients

Se estudian 170 pacientes consultantes de la Unidad de Perinatología, en el lapso comprendido entre el 01-03-1982 al 16-02-1984. La muestra fue selecionada de una población de 5.625 pacientes atendidas en dicho lapso. Cien (100) pacientes fueron catalogados y el resto (70) estuvo constituido por pacientes diabéticas conocidas, sin vasculopatía. A todas se les practicó amniocentesis; realizándose en el estudio del líquido amniótico test de células caobas, test de células naranjas, determinación de creatinina, test de Clements, test de aceleración del tiempo de coagulación y test del molibdato de amonio, obteniéndose las siguientes conclusiones: 1. No existen diferencias significativas entre embarazos normales y asociados a diabetes en relación al porcentaje de células naranjas, encontrados entre las 37 y 38 semanas de amenorrea. 2. Existen diferençias en relación al porcentaje de células caobas, encontrándose en los embarazos asociados a diabetes porcentajes menores de 6% en número mayor que en los embarazos normales. 3. En relación a los valores de creatinina iguales o mayores de 2 mgs, el numero de casos fue significativamente mayor en los embarazos asociados a diabetes. 4. El número de test de Clements con resultado positivo, fue significativamente menor en los embarazos asociados a diabetes. 5. El número de casos con A.T.C. igual o mayor de 110 seg. fue significativamente mayor en los casos de diabetes y embarazo. 6. En la diabetes gestacional (no vascular) el 74.3% de los casos presentó valores de la prueba del molibdato de amonio por debajo de 0,25; lo cual podría estar asociado con la aparición tardía del fosfatifilglicerol que existe en estos casos. Se concluye con criterios de conducción para el mejor manejo de las embarazadas diabéticas con el objetivo fundamental de disminuir los índices de morbimortalidad perinatal