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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Ectopia cordis in a first-trimester sonographic screening program for aneuploidy.

Waldo Sepulveda¹, Amy E Wong, Luis Simonetti

¹Fetal Medicine Center, Clinica Las Condes, Santiago 20, Chile. fetalmed@yahoo.com

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine

|April 27, 2013

Summary

This summary is machine-generated.

Early diagnosis of ectopia cordis (a congenital heart malformation) is possible in the first trimester. This condition, often linked with omphalocele or body stalk anomaly, carries a poor prognosis.

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Area of Science:

Medical imaging
Fetal medicine
Congenital abnormalities

Background:

Ectopia cordis is a rare congenital anomaly where the heart is abnormally positioned outside the chest.
Early diagnosis is crucial for management and counseling.
Associated anomalies can significantly impact outcomes.

Observation:

This study reviewed 7 cases of first-trimester ectopia cordis diagnoses.
Four cases were associated with pentalogy of Cantrell (ectopia cordis with omphalocele).
Two cases were linked to body stalk anomaly; one case was isolated thoracic ectopia cordis.

Findings:

Diagnosis of ectopia cordis is feasible using first-trimester sonography.
The overall perinatal mortality rate was 100% across the reviewed cases.
Associated anomalies, particularly pentalogy of Cantrell and body stalk anomaly, were common.

Implications:

First-trimester sonographic diagnosis of ectopia cordis is achievable.
The prognosis for ectopia cordis, especially when associated with other major anomalies, remains extremely poor.
These findings underscore the importance of detailed first-trimester anomaly scans for early detection and counseling.