OBJECTIVE: To investigate the outcome of pregnancy after detection of chromosomal mosaicism and to determine the correlation between human chorionic gonadotropin (free β-HCG) and pregnancy-associated plasma protein-A (PAPP-A) levels from first-trimester-screening with pregnancy outcome. METHODS: In a single-center, retrospective survey of the results of prenatal diagnostics performed between January 2000 and March 2011, we identified a total of 40 pregnancies with chromosomal mosaicism. Clinical characteristics and results of first-trimester screening, as well as the outcome of these cases, are described. RESULTS: Out of 40 cases, 21 were defined as confined placental mosaicism, 10 classified as true mosaicism and nine were not classifiable cases. Nuchal translucency (NT) was ≥2.5 mm in 8/30 cases with respective measurements. PAPP-A levels were ≤0.4 MoM in 9/26 cases, with respective measurements, two of them being newborns with growth restriction. Remarkably, in pregnancies of all four children born with severe growth retardation, <3rd percentile PAPP-A levels were below 0.52 MoM. CONCLUSIONS: Our observations show mosaic pregnancy outcomes to be very heterogeneous. Nevertheless, a combination of low PAPP-A and interpretation of chromosomal mosaicism might identify pregnancies at particular risk for fetal growth restriction.
OBJECTIVE: To investigate the outcome of pregnancy after detection of chromosomal mosaicism and to determine the correlation between human chorionic gonadotropin (free β-HCG) and pregnancy-associated plasma protein-A (PAPP-A) levels from first-trimester-screening with pregnancy outcome. METHODS: In a single-center, retrospective survey of the results of prenatal diagnostics performed between January 2000 and March 2011, we identified a total of 40 pregnancies with chromosomal mosaicism. Clinical characteristics and results of first-trimester screening, as well as the outcome of these cases, are described. RESULTS: Out of 40 cases, 21 were defined as confined placental mosaicism, 10 classified as true mosaicism and nine were not classifiable cases. Nuchal translucency (NT) was ≥2.5 mm in 8/30 cases with respective measurements. PAPP-A levels were ≤0.4 MoM in 9/26 cases, with respective measurements, two of them being newborns with growth restriction. Remarkably, in pregnancies of all four children born with severe growth retardation, <3rd percentile PAPP-A levels were below 0.52 MoM. CONCLUSIONS: Our observations show mosaic pregnancy outcomes to be very heterogeneous. Nevertheless, a combination of low PAPP-A and interpretation of chromosomal mosaicism might identify pregnancies at particular risk for fetal growth restriction.
Authors: Karuna R M van der Meij; Erik A Sistermans; Merryn V E Macville; Servi J C Stevens; Caroline J Bax; Mireille N Bekker; Caterina M Bilardo; Elles M J Boon; Marjan Boter; Karin E M Diderich; Christine E M de Die-Smulders; Leonie K Duin; Brigitte H W Faas; Ilse Feenstra; Monique C Haak; Mariëtte J V Hoffer; Nicolette S den Hollander; Iris H I M Hollink; Fernanda S Jehee; Maarten F C M Knapen; Angelique J A Kooper; Irene M van Langen; Klaske D Lichtenbelt; Ingeborg H Linskens; Merel C van Maarle; Dick Oepkes; Mijntje J Pieters; G Heleen Schuring-Blom; Esther Sikkel; Birgit Sikkema-Raddatz; Dominique F C M Smeets; Malgorzata I Srebniak; Ron F Suijkerbuijk; Gita M Tan-Sindhunata; A Jeanine E M van der Ven; Shama L van Zelderen-Bhola; Lidewij Henneman; Robert-Jan H Galjaard; Diane Van Opstal; Marjan M Weiss Journal: Am J Hum Genet Date: 2019-11-07 Impact factor: 11.025