RESUMO
Fetal trisomy 21 is associated with elevated maternal serum hCG and its free beta-subunit (hCG-beta) in vivo, and abnormal placental hCG production and glycosylation in vitro. Other maternal serum markers may also be disrupted in major aneuploidies (T21, T18, T13). We evaluated our aneuploidy screening practices, focusing on hCG-beta and hCG glycoforms, and retrospectively analyzed 55 aneuploidy cases diagnosed over a 2 year period, determining maternal serum hCG glycoforms profiles using 2D-electrophoresis. Screening efficiency reached 96.7%. T21 was associated with elevated hCG-beta while T18 presented with diminished serum markers. hCG glycoforms tended to be basic in aneuploidy (mainly T13).
Assuntos
Gonadotropina Coriônica/sangue , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Adulto , Gonadotropina Coriônica/biossíntese , Gonadotropina Coriônica Humana Subunidade beta/sangue , Transtornos Cromossômicos/sangue , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18/metabolismo , Síndrome de Down/sangue , Eletroforese em Gel Bidimensional , Feminino , Glicosilação , Humanos , Pessoa de Meia-Idade , Medição da Translucência Nucal , Placenta/metabolismo , Gravidez , Proteína Plasmática A Associada à Gravidez/análise , Estudos Retrospectivos , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18 , Ultrassonografia Pré-NatalRESUMO
In a context of foetal obstructive uropathies, biochemical markers can be helpful to assess the renal function, but most studies to date have focused on their correlation with ultrasound findings and neonatal outcome. Our aim was to evaluate foetal ß2-microglobulin as an index of histological injury to the kidney. ß2-microglobulin was measured in serum and/or urine from 27 foetuses with bilateral obstructive uropathy, and compared to the findings of kidney examination following the termination of pregnancy. In serum, increased ß2-microglobulin levels correlated to a decreased number of glomeruli, a reduction in the blastema and the presence of primitive ducts reflecting renal hypoplasia and dysplasia. However, elevated ß2-microglobulin levels in the urine correlated only to a decreased number of glomeruli.