La toxoplasmosis congénita continúa siendo un problema de salud pública. Aun cuando existen guías plenamente divulgadas y conocidas, se observa poca implementación de ellas en algunas instituciones de salud y una inadecuada interpretación de las pruebas serológicas en las gestantes. Esto puede generar falta de captación y tratamiento en embarazadas con primoinfección por Toxoplasma gondii.
Se reportan dos casos de toxoplasmosis congénita, uno de ellos con desenlace fatal. En ambos no se siguieron las guías de práctica clínica, lo cual conllevó un diagnóstico tardío y, en consecuencia, un manejo en condiciones inapropiadas con daños graves.
La toxoplasmosis es una infección congénita aún prevalente en algunos países, con secuelas graves, discapacidad neurológica y riesgo de daño ocular, incluso tardío. Además, existen algunas variedades de cepas de T. gondii con un comportamiento más agresivo en Latinoamérica, lo cual empeora la presentación de los casos e incluye mayor riesgo de muerte.
Congenital toxoplasmosis continues to be a public health problem. Although clinical guidelines have been divulgated and are well known, they are not implemented in some health institutions, in addition of an inappropriate interpretation of the serological tests in pregnant women. This situation can lead to lack of screening and treatment in pregnant women with primary Toxoplasma gondii infection.
We report two cases of congenital toxoplasmosis, one with a fatal outcome. In both cases, the clinical guidelines were not initially followed, leading to a delayed diagnosis and, consequently, an inappropriate management in conditions with severe damage.
Toxoplasmosis is a congenital infection still prevalent in some countries, with severe sequelae, neurological disability, and even late risk of ocular damage. ­Additionally, some varieties of the T. gondii strains have a more aggressive pattern in Latin America, worsening the clinical presentation of cases and including a high risk of death.

Mother-to-child transmission in Toxoplasma gondii infection occurs only when the infection is acquired for the first time during pregnancy. Diagnosis of maternal infection and the newborn is achieved by a combination of serological tests, clinical features and ultrasound images. An early diagnosis of maternal infection allows treatment that offers a reduction both in transmission rate and risk of congenital damage. The aim of this expert consensus was to review the scientific literature which would enable an update of the clinical practice guideline of prevention, diagnosis and treatment of congenital toxoplasmosis in our country.
La transmisión vertical de la infección por Toxoplasma gondii ocurre cuando la madre se infecta por primera vez en el transcurso del embarazo. El diagnóstico de la infección materna y la del recién nacido se logra con el conjunto de pruebas serológicas, hallazgos clínicos y ecográficos. El reconocimiento temprano de la infección materna permite un tratamiento que reduce la tasa de transmisión y el riesgo de daño en el producto de la concepción. El objetivo de este consenso de expertos fue revisar la literatura científica para actualizar las recomendaciones de práctica clínica respecto de la prevención, el diagnóstico y el tratamiento de la toxoplasmosis congénita en nuestro país.

The aim of the study was to evaluate obstetric care of pregnant women with regard to prevention of congenital toxoplasmosis. Additionally, we attempted to determine the frequency of markers for past infection with Toxoplasma gondii in order to characterize the current significance of preventive measures in the Polish population.
The analysis of the medical records - pregnancy charts of women who presented for delivery - was performed. Patient age, place of residence, and toxoplasmosis test (or lack of it) were evaluated. Also, further diagnostic management, depending on the serologic result, was investigated.
Out of 670 pregnant women, 628 (93.73%) underwent at least one toxoplasmosis diagnostic test. Out of those, 502 (73%) had a negative result (IgG -, IgM -), and 2 (0.32%) had a positive result (IgG +, IgM +), while history of infection with Toxoplasma gondii was confirmed (IgG +, IgM -) in 124 (19.75%) cases. Repeat testing was required in 183 (29.14%) out of the 628 women.
A high rate of women in whom IgG antibodies were not detected in the first test and a low rate of women who required repeat testing later in pregnancy are noteworthy. Regardless of the healthcare policy, parents should receive reliable information about the nature of the disease and possibilities of prevention, while medical professionals ought to have easy access to research data about the epidemiologic status and recommendations.

Congenital toxoplasmosis is the result of transplacental fetal infection by Toxoplasma gondii after the primary maternal infection. The severity of the disease depends on the gestational age at transmission. First trimester infections are more severe, but less frequent, than third trimester infections. Acute maternal infection is diagnosed by seroconversion or by the detection of IgM antibodies and a low IgG avidity test. In these cases, spiramycin should be initiated to prevent transmission to the fetus. For identification of fetal infection, polymerase chain reaction (PCR) testing of amniotic fluid after 18 weeks gestation should be performed. If fetal infection is confirmed, the mothers should be treated with pyrimethamine, sulfadiazine and folinic acid. Most infants infected in utero are born with no obvious signs of toxoplasmosis, but up to 80% developed learning and visual disabilities later in life. Neonatal diagnosis with IgM/IgA antibodies or blood/cerebrospinal fluid PCR may be difficult because false-negative results frequently occur. In these cases diagnosis is possible by demonstrating a rise in IgG titers during follow-up or by the detection of antibodies beyond one year of age. Early treatment with pyrimethamine and sulfadiazine may improve the ophthalmologic and neurological outcome. Congenital toxoplasmosis is a preventable disease. Pre-pregnancy screening and appropriate counseling regarding prevention measures in seronegative women may prevent fetal infection.

The mother-to-child transmission in Toxoplasma gondii infection occurs only when the infection is acquired for the first time during pregnancy. The prenatal and early postnatal diagnosis can only be achieved by serological testing. Serologic tests have different sensitivities, specificities and complexities, so that different tests in more than one blood sample are necessary for the diagnosis. Serological follow-up of the infants should be conducted during the first year of life or until the diagnosis of congenital toxoplasmosis can be ruled out. Treatment recommendations try to reduce the transmission rate and the risk of congenital damage. Congenital toxoplasmosis incidence rate is approximately 5 per 1000 births, but can be reduced to 0.5 per 1000 with an active screening program. The aim of this consensus group was to review the scientific literature on congenital toxoplasmosis and prepare a statement on prevention, diagnosis and treatment that should be implemented in our country.

The first part of this paper reviews: (1) the spectrum of clinical features of congenital toxoplasmosis; (2) the natural course of fetal infection; (3) the influence of antitoxoplasma therapy on the course of the disease; (4) methods for diagnosing the toxoplasma infection and assessing the severity of the disease; (5) currently used antitoxoplasma drugs and different therapeutic regimens. The second part suggests a practical approach to the problem of congenital toxoplasma infection, including diagnostic work-up, drug therapy, and follow-up. This practical approach is modulated according to the clinical syndrome in the infant and diagnostic and therapeutic considerations in the mother.

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