First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases.

Abstract

SUMMARY Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be highly efficient, with a diagnostic success rate of 97-7%. In the light of our experience we suggest that CVS is best performed between the 9th and 10th weeks of pregnancy. The average weight of the aspirated specimen was 20 mg with a lower limit of 5 mg which proved sufficient for diagnostic purposes

Increased Severity of Fetal Hemolytic Disease with Known Rhesus Alloimmunization after First-Trimester Transcervical Chorionic Villus Biopsy

“…The finding of an acute elevation of the maternal serum a-fetoprotein concentration immediately following CVS reported by several investigators sub stantiates that transfer of fetal blood into the maternal circulation does occur [2,3], In the patient with red cell alloimmunization, this minor degree of FMH has the potential to produce an anamnestic antibody response with worsening of fetal hemolytic disease. For this reason, several authors have pro posed red cell alloimmunization as an abso lute contraindication for CVS [4,5], In con trast, other authors have used CVS in the alloimmunized pregnant patient to deter mine the fetal red cell antigen status in cases of heterozygous paternal genotype [6,7].We report a case of poor fetal outcome after transcervical CVS in a patient alloim munized to red cell antigens. The rationale for the recommendation that CVS should not be undertaken in the alloimmunized pa tient is delineated.…”

Stand der Chorionzottenbiopsie in der BRD

“…Die Hauptindikation zur Durchffihrung einer CZB betrifft die Chromosomendiagnostik, die im Bereich der BRD etwa 95% ausmacht und die international ebenfalls zwischen 91 und 98% liegt [2,38,40].…”

“…Die Erfolgsrate bei transvaginalem Vorgehen liegt bei fiber 90% in bezug auf die Gewinnung von qualitativ und quantitativ ausreichendem Zottengewebe [2,28,37,39,40]. l~lbungen und technische Durchffihrungen beeinflussen den Erfolg [23,27,28,36,37,39].…”

“…l~lbungen und technische Durchffihrungen beeinflussen den Erfolg [23,27,28,36,37,39]. Mehrfachinsertionen k6n-nen notwendig sein, ehe man qualitativ und quantitativ ausreichendes Gewebe gewinnt [2]. Dabei sind die technischen Details wie Durchffihrung, sonographische Kontrolle, Katheterffihrung etc.…”

Análise dos resultados dos procedimentos invasivos para estudo do cariótipo fetal

“…Esse procedimento diagnóstico pode ser realizado tão ou mais precocemente que a amniocentese, a partir da 7ª semana de gestação (129,130) , estendível até o terceiro trimestre, quando é denominado biópsia de placenta (131) . A BVC é habitualmente realizada entre a 11 e 14 semanas da gravidez (132,133) .…”