Jam. Johnson et al., PRENATAL-DIAGNOSIS OF NEONATAL ALLOIMMUNE THROMBOCYTOPENIA USING AN ALLELE-SPECIFIC OLIGONUCLEOTIDE PROBE, Prenatal diagnosis, 13(11), 1993, pp. 1037-1042
The prediction of neonatal alloimmune thrombocytopenia (NAIT) in affec
ted families is usually based on information about gene frequencies of
the antigen systems involved, parental phenotyping, and fetal platele
t counts. Recently the use of allele-specific oligonucleotide probe ty
ping for Pl(A) (HPA-1) antigens has been described to determine the ri
sk of second or subsequent fetuses in families where one infant had th
e diagnosis of anti-Pl(A1) (HPA-1a)-mediated NAIT (McFarland et al., 1
991a). This paper describes the first case in which the prenatal diagn
osis of Pl(A) (HPA-1) antigen status was accomplished using this techn
ology on genomic DNA derived from chorionic villus tissue in the first
trimester, and presents the implications of these findings for the cl
inical management of this disorder.