Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18. (3rd November 2020)

• Record Type: Journal Article
• Authors: Steffensen, Ellen Hollands; Hyett, Jonathan; Petersen, Olav Bjørn; Vogel, Ida
• Is Part Of: Prenatal diagnosis. Volume 41:Number 2(2021)
• Page Start: 218
• Page End: 225
• Publication Date: 2020-11-03
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5851
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first‐trimester screening (cFTS) for the trisomies in Denmark in 2004. Method: Cross‐sectional, population‐based register study employing The Danish Cytogenetic Central Register. Proportions of cases diagnosed 1998‐2004 and 2005‐2017 were compared before 14 +0 and 22 +0 weeks and birth (prenatal cases) or up to 1 or 10 years of age (postnatal cases). Results: In total, 4562 cases were included. From 1998‐2004 to 2005‐2017, the proportion of 22q11.2 deletion cases identified prenatally increased from 4.3% (95% CI: 0.9‐12.0%) to 27.3% (21.2‐34.0%), while for 22q11.2 duplication an increase from 0/6 to 26/87 (prenatal cases/all cases) was observed. Similarly, proportions of trisomies 21, 13, and 18 detected before birth increased. A greater proportion of the studied conditions was identified earlier in pregnancy, but not generally earlier in the postnatal course. Conclusion: Proportions of 22q11.2 deletion and 22q11.2 duplication identified prenatally increased after introduction of a prenatal screening program not aimed specifically to identify these conditions, . A greater proportion of all cases were detected earlier in pregnancy, but not earlier postnatally, following introduction of screening.