Open AccessDiagnosis and prediction of parental origin of triploidies by fetal nuchal translucency and maternal serum free β‐hCG and PAPP‐A at 11–14 weeks of gestation
Author(s) -
BARKEN SIDSEL S.,
SKIBSTED LILLIAN,
JENSEN LISA N.,
SPERLING LENE,
ZINGENBERG HELLE,
BRØNDUMNIELSEN KAREN
Publication year - 2008
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1080/00016340802275927
Subject(s) - medicine , obstetrics , gestation , fetus , gynecology , pregnancy , prenatal diagnosis , nuchal translucency , genetics , biology
The study objective was to determine the parental origin of triploidy in relation to findings from early risk assessment in a combined screening program between 2004 and the end of 2006. Triploidy was diagnosed in six chorion villus samples and two samples from missed abortions. After informed consent, quantitative fluorescence polymerase chain reaction analysis was performed on the five cases where we received blood from both parents and tissue from fetuses. In four cases the origin of the triploidy was paternal and in one maternal, in accordance with previous findings in type I and type II triploidies. Finding triploidy is possible by risk assessment (ultrasound and double test), and thereby women may have the opportunity for early termination of pregnancy.