Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

@article{Tabor2009UpdateOP,
  title={Update on Procedure-Related Risks for Prenatal Diagnosis Techniques},
  author={Ann Tabor and Zarko Alfirevic},
  journal={Fetal Diagnosis and Therapy},
  year={2009},
  volume={27},
  pages={1 - 7}
}
Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5–1.0% for amniocentesis as well… 

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References

SHOWING 1-10 OF 58 REFERENCES

Late First-Trimester Invasive Prenatal Diagnosis: Results of an International Randomized Trial

TLDR
Amniocentesis at 13 weeks carries a significantly increased risk of talipes equinovarus compared with CVS and also suggests an increase in early, unintended pregnancy loss.

First-trimester screening for chromosomal abnormalities.

TLDR
There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy, and a further improvement in the effectiveness is likely to be achieved by a risk-orientated two-stage approach.

A classification of pregnancy losses after invasive prenatal diagnostic procedures: an approach to allow comparison of units with a different case mix

TLDR
A classification of pregnancy losses is developed that will help in calculating procedure‐related pregnancy loss rates and allow comparison between units with a different case mix.

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

TLDR
A policy of follow‐up of patients undergoing Down syndrome maternal serum screening was taken to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not.

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

TLDR
Second trimester amniocentesis is safer than transcervical CVS and early amnocentesis, if earlier diagnosis is required, and transabdominal CVS is preferable to early amNIocentesis or transcervICAL CVS.

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.

TLDR
The authors state that they were surprised to find that there was no excess fetal loss in patients undergoing CVS, as compared with unexposed controls, and were at a loss to suggest a possible biologic basis for their findings.

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

TLDR
It is concluded that chorionic villus sampling is a safe and effective technique for the early prenatal diagnosis of cytogenetic abnormalities, but that it probably entails a slightly higher risk of procedure failure and of fetal loss than does amniocentesis.

Revisiting the Fetal Loss Rate After Second-Trimester Genetic Amniocentesis: A Single Center’s 16-Year Experience

TLDR
The institutional fetal loss rate attributable to amniocentesis is 0.13%, or 1 in 769 at Washington University School of Medicine, which is not significantly different from that observed in patients who had no procedure.
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