Title: Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands

Abstract

ABSTRACT Objective To examine the accuracy and timing of diagnosis of fetal cleft lip with or without cleft palate ( CL  ± P) in the years following the introduction of a national screening program, and to assess the completeness and accuracy of information in The Netherlands Perinatal Registry. Methods A list was obtained of cases with a prenatal or postnatal diagnosis of CL  ± P from two fetal medicine units between 2008 and 2012. All cases of CL  ± P were included irrespective of the presence or absence of additional anomalies. Cases were included if the estimated date of delivery was between 1 January 2008 and 31 December 2012. Results During the study period, 330 cases of CL  ± P were identified, with a prevalence of 15 per 10 000 pregnancies. The number of cases that were detected before 24 weeks' gestation increased during the study period, while the rate of termination of pregnancy did not change significantly ( P  = 0.511). CL  ± P was isolated in 217 (66%) cases and karyotype was abnormal in 69 (21%) cases. In 5% of the cases in which CL  ± P seemed to be isolated during the 18–23‐week anomaly scan, postnatal array comparative genomic hybridization (array‐ CGH ) revealed an abnormalmore » karyotype and 50% of these cases had major additional anomalies. Examination of data from The Netherlands Perinatal Registry demonstrated that in 37% of cases CL ±P was not recorded in the pregnancy records. Conclusion CL  ± P is increasingly being diagnosed prenatally, without a significant effect on the rate of pregnancy termination. Further improvement in the diagnostic accuracy may be achieved by advocating prenatal array‐ CGH to reduce the frequency of unexpected anomalies being diagnosed after birth. It is important that healthcare providers register accurately the presence or absence of anomalies in the birth records to ensure that, in the future, data from The Netherlands Perinatal Registry can be relied upon to monitor prevalence. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.« less

Authors:

Fleurke‐Rozema, J. H. ^[1]; van de Kamp, K. ^[2]; Bakker, M. K. ^[1]; Pajkrt, E. ^[2]; Bilardo, C. M. ^[1]; Snijders, R. J. M. ^[1]

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+ Show Author Affiliations

1. Department of Obstetrics, University Medical Centre Groningen University of Groningen Groningen The Netherlands
2. Department of Obstetrics University Medical Centre Amsterdam Amsterdam The Netherlands

Publication Date:

Fri Sep 09 00:00:00 EDT 2016

Sponsoring Org.:

USDOE

OSTI Identifier:

1400450

Resource Type:

Publisher's Accepted Manuscript

Journal Name:

Ultrasound in Obstetrics & Gynecology

Additional Journal Information:

Journal Name: Ultrasound in Obstetrics & Gynecology Journal Volume: 48 Journal Issue: 4; Journal ID: ISSN 0960-7692

Publisher:

Wiley Blackwell (John Wiley & Sons)

Country of Publication:

Country unknown/Code not available

Language:

English