title: Analysis of fetal DNA in the maternal venous blood for abnormalities of chromosomes 13, 16, 18 and 21 in first-trimester spontaneous miscarriage.
abstract: We investigated whether fetal DNA from the maternal blood can be used to diagnose abnormalities of chromosomes 13, 16, 18 and 21 in spontaneous miscarriage. Venous blood was obtained from 50 women with a diagnosis of spontaneous miscarriage. The evacuated products of the uterus were also sampled. DNA was extracted from both blood and tissue samples. Polymerase chain reaction (PCR) was performed using microsatellite markers for selected chromosomes. A novel technique using a capillary sequencer was employed. The electrophoretogram created was analysed using GeneScan software. The result obtained from the maternal blood samples was compared to the result obtained from uterine samples. Forty-two of the 50 (84%) cases were found to have a trisomy of one or more of the chromosomes tested on analysis of maternal blood. Compared to the overall result obtained on the uterine products of conception, the sensitivity was 97.6 and specificity 1.0. Trisomy 16 was the most common abnormality detected. These results suggest that the incidence of genetic abnormalities complicating miscarriage may be higher than suspected hitherto.
authors.affiliation: Coombe Women's Hospital, Dublin, Ireland.
authors.forename: Juliet
authors.initials: J
authors.lastname: Skinner
authors.forename: Karsta
authors.initials: K
authors.lastname: Luettich
authors.forename: Martina
authors.initials: M
authors.lastname: Ring
authors.forename: J J
authors.initials: JJ
authors.lastname: O'Leary
authors.forename: M J
authors.initials: MJ
authors.lastname: Turner
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002877:Chromosomes, Human; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus; D006801:Humans; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000592:standards; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004247:DNA