Congenital toxoplasmosis.

[congenital toxoplasmosis]

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy . Prevalence of congenital infection ranges from 0 .1 to 0 .3 per 1000 live births . The maternal -fetal transmission rate increases with gestational age at maternal seroconversion , from less than 15 % at 13 weeks of gestation to over 70 % at 36 weeks . Conversely , the later the maternal infection , the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth ). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid . Antenatal management and treatment vary considerably among countries . In some European countries , maternal infections are detected through serological screening allowing a prompt treatment with spiramycin , which is expected to reduce the risk of vertical transmission . If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy , a combination with pyrimethamine and sulphonamide is given until delivery . Benefits of antenatal treatments remain controversial . Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months . Despite antenatal and postnatal treatment , chorioretinitis can occur at any age (prevalence >20 % at 10 years of age ): long -term ophthalmological follow-up remains necessary .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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