OBJECTIVE: To evaluate the levels of first-trimester screening markers in triploid pregnancies and to determine the parental origin of triploidy. STUDY DESIGN: During the five-year study period, 12322 patients with singleton pregnancies underwent combined first-trimester screening using nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) at 10 to 14 weeks' gestation. Maternal serum markers and NT were evaluated in cases of triploidy. Molecular analysis was performed using polymorphic markers to establish the parental source of triploidy. RESULTS: Eight cases of triploidy were detected at a rate of at least 1 in 1540. All cases were electively terminated early in gestation or resulted in spontaneous miscarriage. Two patterns of first-trimester markers emerged: type I, characterized by extremely high levels of free beta-hCG and elevated NT; and type II, characterized by very low levels of PAPP-A and free beta-hCG with normal NT. Molecular analysis demonstrated that type I triploidy is of paternal origin (diandric) and type II is of maternal origin (digynic). CONCLUSIONS: On the basis of these results, it may be possible to detect triploid pregnancies in the first trimester and determine their origin using combined first-trimester screening. Copyright 2004 John Wiley & Sons, Ltd.
OBJECTIVE: To evaluate the levels of first-trimester screening markers in triploid pregnancies and to determine the parental origin of triploidy. STUDY DESIGN: During the five-year study period, 12322 patients with singleton pregnancies underwent combined first-trimester screening using nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy associated plasma protein-A (PAPP-A) at 10 to 14 weeks' gestation. Maternal serum markers and NT were evaluated in cases of triploidy. Molecular analysis was performed using polymorphic markers to establish the parental source of triploidy. RESULTS: Eight cases of triploidy were detected at a rate of at least 1 in 1540. All cases were electively terminated early in gestation or resulted in spontaneous miscarriage. Two patterns of first-trimester markers emerged: type I, characterized by extremely high levels of free beta-hCG and elevated NT; and type II, characterized by very low levels of PAPP-A and free beta-hCG with normal NT. Molecular analysis demonstrated that type I triploidy is of paternal origin (diandric) and type II is of maternal origin (digynic). CONCLUSIONS: On the basis of these results, it may be possible to detect triploid pregnancies in the first trimester and determine their origin using combined first-trimester screening. Copyright 2004 John Wiley & Sons, Ltd.
Authors: Paolo Guanciali-Franchi; Irene Iezzi; Barbara Matarrelli; Elisena Morizio; Giuseppe Calabrese; Giandomenico Palka Journal: J Prenat Med Date: 2012-07
Authors: Malou A Lugthart; Judith Horenblas; Emily C Kleinrouweler; Melanie Engels; Alida C Knegt; Karin Huijsdens; Elisabeth van Leeuwen; Eva Pajkrt Journal: Prenat Diagn Date: 2020-03-03 Impact factor: 3.050