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Murine Fetal Echocardiography
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First and second trimester screening for fetal structural anomalies.

Lindsay Edwards1, Lisa Hui2

  • 1Feto-Maternal Unit, Royal Hobart Hospital, Hobart, Tasmania, Australia.

Seminars in Fetal & Neonatal Medicine
|December 14, 2017
PubMed
Summary

Prenatal screening for fetal structural anomalies using ultrasound is crucial for early detection and management. Advanced imaging techniques and genetic testing, like chromosomal microarray, improve diagnostic accuracy and inform parental decisions.

Keywords:
Congenital anomaliesMagnetic resonance imagingNeurosonographyNuchal translucency measurementPrenatal diagnosisUltrasonography

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Area of Science:

  • Obstetrics and Gynecology
  • Medical Imaging
  • Prenatal Diagnosis

Background:

  • Fetal structural anomalies occur in up to 3% of pregnancies, necessitating effective screening methods.
  • Ultrasound screening is a cornerstone of prenatal care, enabling early detection of various anomalies.
  • While first-trimester screening identifies some anomalies, others manifest later due to organ system development.

Purpose of the Study:

  • To review the role of ultrasound and advanced imaging in detecting fetal structural anomalies.
  • To highlight the importance of timely diagnosis for optimal perinatal management and parental counseling.
  • To discuss the recommended genetic testing strategies for major structural abnormalities.

Main Methods:

  • Review of current literature on fetal anomaly detection using ultrasound and MRI.
  • Discussion of first and second-trimester screening protocols and their detection rates.
  • Emphasis on advanced imaging techniques like fetal neurosonogram and echocardiogram.
  • Consideration of genetic testing options, including chromosomal microarray analysis.

Main Results:

  • Approximately 50% of major structural anomalies are detectable in the first trimester.
  • Second-trimester anatomy scans remain the standard for comprehensive anomaly detection.
  • Ultrasound technology has advanced, improving visualization of central nervous and cardiovascular systems.
  • Fetal MRI is valuable for specific anomalies and pre-surgical planning.
  • Chromosomal microarray offers higher genomic resolution than karyotyping for prenatal genetic testing.

Conclusions:

  • Ultrasound is a safe and effective primary imaging modality for prenatal anomaly detection.
  • Advanced imaging and genetic testing significantly enhance diagnostic capabilities.
  • Early and accurate prenatal diagnosis empowers parents with information for informed decision-making and management planning.