Prenatal screening for trisomy 21: recent advances and guidelines

@inproceedings{Canick2012PrenatalSF,
  title={Prenatal screening for trisomy 21: recent advances and guidelines},
  author={Jacob A. Canick},
  booktitle={Clinical chemistry and laboratory medicine},
  year={2012}
}
  • J. Canick
  • Published in
    Clinical chemistry and…
     1 June 2012
  • Medicine
Abstract The performance of prenatal screening tests for the identification of trisomy 21 (Down syndrome) has markedly improved since the 1970s and early 1980s when maternal age was the sole mode of screening the general pregnant population. With the discovery of second trimester serum markers in the 1980s and 1990s and implementation of double, triple, and quad marker testing; the discovery of first trimester serum and ultrasound markers in the 1990s and implementation of the combined test… 
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23 Citations
Background Citations
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Methods Citations
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23 Citations

Citation Type

Citation Type

First trimester, second trimester, and integrated screening for Down's syndrome in China
TLDR
It is suggested that integrated screening was the most effective means of screening for Down's syndrome in a Chinese population over 21 months.
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
TLDR
The NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses and compared with three previously reported z-score approaches with/without GC-bias removal and with internal control.
An Overview on Prenatal Screening for Chromosomal Aberrations
TLDR
Traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential are covered.
Non-invasive prenatal testing: impact on invasive prenatal diagnosis at a mainland Chinese tertiary medical center
  • Dongzhi Li, L. Zhen, M. Pan, Jin Han, Xin Yang, Y. Ou
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2016
TLDR
After the clinical introduction of NIPT, invasive prenatal diagnostic testing had not decreased at a Chinese prenatal diagnostic unit, but a remarkably improved detection rate of major aneuploidies in diagnostic procedures was observed.
Triploidy and Routine Combined First Trimester Pregnancy Screening
TLDR
Early prenatal diagnosis of this syndrome would provide women an opportunity to terminate an affected pregnancy earlier, and highlight the need to consider a somewhat consistent pattern of the first trimester combined screening in a pregnancy with triploidy.
Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital
  • J. Han, M. Pan, +4 authors D. Li
  • Medicine
    Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
  • 2014
TLDR
CVS is a safe and reliable prenatal diagnostic technique and should be one of the options available to pregnant women who require prenatal diagnosis, according to the aim of this study.
Non-invasive prenatal diagnostics of aneuploidy using next-generation DNA sequencing technologies, and clinical considerations
TLDR
A review of recent NGS-based NIPD methods as well as the available algorithms for short-read sequence analysis is provided, and the practical application of these algorithms for the detection of different types of fetal aneuploidies is introduced.
Performance of prenatal screening using maternal serum and ultrasound markers for Down syndrome in Chinese women: a systematic review and meta‐analysis
Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently…
Ethnic-specific reference range affects the efficacy of quadruple test as a universal screening for Down syndrome in a developing country
TLDR
The findings indicate that DS screening should be adjusted with an appropriate individual ethnic factor when used for national screening.
Laboratory maternal-fetal medicine: challenges and perspectives
  • M. Plebani
  • Medicine
    Clinical chemistry and laboratory medicine
  • 2012
TLDR
This issue of Clinical Chemistry and Laboratory Medicine (CCLM) contains several articles based on contributions presented at the 2nd IFCC Ortho Clinical Diagnostics (OCD) Conference entitled “ Disease and the clinical laboratory pregnancy related disorders: present and emerging challenges ”, a congress organized to provide an overview of the present and future trends in this area.
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References

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