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Updated: May 26, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

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Published on: February 23, 2011

Prenatal diagnosis: types and techniques.

S L Collins1, L Impey

  • 1The Fetal Medicine Unit, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom.

Early Human Development
|December 27, 2011
PubMed
Summary
This summary is machine-generated.

Congenital abnormalities affect up to 3% of UK pregnancies. This review covers current and emerging prenatal diagnostic techniques, including cell-free fetal DNA testing, to aid informed decision-making.

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Area of Science:

  • Obstetrics and Gynecology
  • Medical Genetics
  • Fetal Medicine

Background:

  • Congenital abnormalities impact up to 3% of pregnancies in the United Kingdom.
  • Prenatal diagnosis is crucial for informed parental decisions, optimized antenatal care, and family preparation.
  • A spectrum of diagnostic methods exists, from non-invasive to highly invasive procedures.

Purpose of the Study:

  • To review current prenatal diagnostic techniques available in the UK.
  • To explore emerging minimally-invasive technologies for prenatal diagnosis.
  • To provide an overview of options for managing pregnancies with potential fetal abnormalities.

Main Methods:

  • Review of existing literature and clinical practices in the UK.
  • Exploration of established prenatal diagnostic methods (e.g., ultrasonography, amniocentesis).
  • Investigation of novel minimally-invasive techniques such as cell-free fetal DNA (cfDNA) analysis and pre-implantation genetic diagnosis (PGD).

Main Results:

  • Current UK practice utilizes a range of diagnostic tools from ultrasonography to invasive procedures.
  • Minimally-invasive techniques like cfDNA testing offer promising alternatives with reduced risk.
  • Pre-implantation genetic diagnosis provides options for genetic screening before pregnancy.

Conclusions:

  • A comprehensive approach to prenatal diagnosis is essential for effective pregnancy management.
  • Advancements in minimally-invasive technologies are expanding diagnostic capabilities and patient options.
  • Continued evaluation of new techniques is vital for improving outcomes in pregnancies affected by congenital abnormalities.