Journal Mobile Options
Table of Contents
Vol. 30, No. 3, 2011
Issue release date: November 2011
Section title: Original Paper
Fetal Diagn Ther 2011;30:207–214
(DOI:10.1159/000329309)

Phenotypic Variability in Fetuses with Down Syndrome: A Case-Control Pathological Evaluation

Ramalho C. · Brandão O. · Matias A. · Montenegro N.
aCenter of Prenatal Diagnosis, Department of Gynecology and Obstetrics, and bDevelopmental Perinatal Unit, Department of Pathology, Centro Hospitalar S. João, Medical Faculty of Porto, Porto, Portugal

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/22/2010 9:47:03 AM
Accepted: 5/10/2011
Published online: 9/23/2011

Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 3

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT

Abstract

Objectives: Evaluation of morphological and morphometric characteristics of fetuses with Down syndrome based on a detailed postmortem examination and comparison of these fetuses with a control group of fetuses with normal karyotype to improve the prenatal knowledge of Down syndrome characteristics. Material and Methods: A case-control study was undertaken in a tertiary referral hospital. The Down syndrome fetuses (50) were compared with chromosomally normal fetuses (47) matched for gestational age. Biometric and morphological parameters were compared. Results: The biometry of fetuses with Down syndrome differs from control fetuses only in the occipitofrontal diameter and in the nasal bone length. There were craniofacial anomalies in 96% of fetuses with Down syndrome and in 51% of fetuses with normal karyotype. With the exception of small ears, all craniofacial features analyzed were significantly different between Down syndrome fetuses and control fetuses. All extremity features of fetuses with Down syndrome were significantly different from fetuses without Down syndrome. There were 31 fetuses with Down syndrome (62%) with 55 internal anomalies. Nineteen fetuses (38.8%) showed 27 cardiac anomalies. Six fetuses had more than one anomaly. There were 18 fetuses (36%) with 28 noncardiac anomalies. Discussion: The importance of studying the morphological characteristics of fetuses with Down syndrome is the contribution to a better knowledge of fetal characteristics and probably to optimize prenatal diagnosis.


  

Author Contacts

Carla Ramalho, MD
Serviço de Obstetrícia, Centro Hospitalar S. João
Al. Prof. Hêrnani Monteiro
PT–4202-451 Porto (Portugal)
Tel. +351 917 712 948, E-Mail carlaramalho@med.up.pt

  

Article Information

Received: November 22, 2010
Accepted after revision: May 10, 2011
Published online: September 23, 2011
Number of Print Pages : 8
Number of Figures : 0, Number of Tables : 3, Number of References : 60

  

Publication Details

Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)

Vol. 30, No. 3, Year 2011 (Cover Date: November 2011)

Journal Editor: Gratacós E. (Barcelona)
ISSN: 1015-3837 (Print), eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/22/2010 9:47:03 AM
Accepted: 5/10/2011
Published online: 9/23/2011

Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 3

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.