Marianne Christiansen1, Charlotte K Ekelund2, Olav Bjørn Petersen1, Jon Hyett3, Nathan Eastwood4, Susan Ball5, Ann Tabor2, Ida Vogel6. 1. Fetal Medicine Unit, Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark. 2. Center for Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. 3. Department of High Risk Obstetrics, Royal Prince Alfred Hospital, Sydney, Australia. 4. Centre for Biostatistics, Bioinformatics and Biomarkers, Plymouth University, Plymouth, United Kingdom. 5. NIHR CLAHRC South West Peninsula (PenCLAHRC), University of Exeter Medical School, Exeter, United Kingdom. 6. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Abstract
OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population. METHODS: Data on pregnancies with an NT measurement performed at gestational age 11 + 3 - 13 + 6 weeks from 2008 to 2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group. RESULTS: A total of 215 223 singleton pregnancies were included in the cohort; 10548 had a normal karyotype and 1286 had an aberration. Plots of the NT measurements showed that like trisomy 21, 18 and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population. CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.
OBJECTIVE: To describe the distribution of the fetal nuchal translucency thickness (NT) according to type of chromosomal aberration in a large unselected population. METHODS: Data on pregnancies with an NT measurement performed at gestational age 11 + 3 - 13 + 6 weeks from 2008 to 2011 were retrieved from the Danish National Fetal Medicine Database. Information on any genetic analysis for aneuploidy performed pre- or postnatally was also obtained. The abnormal results were grouped into 14 types of chromosomal anomalies. Distributions of NT measurements were summarized by aberration and compared with the normal/no karyotype group. RESULTS: A total of 215 223 singleton pregnancies were included in the cohort; 10548 had a normal karyotype and 1286 had an aberration. Plots of the NT measurements showed that like trisomy 21, 18 and 13 and monosomy X, the distribution for the unbalanced translocations was shifted towards larger NTs. The distributions for the balanced translocations, the uncommon trisomies and the triploidies more closely resembled that of the normal/no karyotype population. CONCLUSION: Fetuses with aneuploidies have NT distributions visually different from normal fetuses, with the exception of triploidies and uncommon autosomal trisomies. The distributions differ in shape according to type of chromosomal anomaly.
Authors: Victoria K Berger; Mary E Norton; Teresa N Sparks; Monica Flessel; Rebecca J Baer; Robert J Currier Journal: Prenat Diagn Date: 2019-12-02 Impact factor: 3.050
Authors: Malgorzata I Srebniak; Merel C de Wit; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Marnix J Bos; Gerda A G Looye-Bruinsma; Mieke Koningen; Attie T J I Go; Robert Jan H Galjaard; Diane Van Opstal Journal: Mol Cytogenet Date: 2016-09-07 Impact factor: 2.009