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… 
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.
...
1
2
3
...

References

SHOWING 1-10 OF 19 REFERENCES
Prenatal screening for fetal aneuploidy.
TLDR
These guidelines are intended to reduce the number of amniocenteses done when maternal age is the only indication, which will have the benefit of reducing the numbers of normal pregnancies lost because of complications of invasive procedures.
Integrated screening for Down's syndrome based on tests performed during the first and second trimesters.
TLDR
A new screening method in which measurements obtained during both trimesters are integrated to provide a single estimate of a woman's risk of having a pregnancy affected by Down's syndrome is proposed.
Prenatal Screening for Fetal Aneuploidy
TLDR
These guidelines are intended to reduce thenumber of amniocenteses done when maternal age is the only indication for invasive testing, and have the benefit of reducing the numbers of normal pregnancies lost because of complications of invasive procedures.
Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers
TLDR
Integrated screening is the most efficient of the 3 strategies, but it is possible to select risk cutoffs for both sequential and contingent strategies that minimize losses in efficiency while maintaining early detection and early completion.
Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome.
TLDR
The process of epidemiologic monitoring, which uses data generated from the screened population, has been developed as an extended quality assurance measure for this purpose, and the primary indicators used include the percentage of women with a screen-positive result and the grand multiple of the median.
First-trimester or second-trimester screening, or both, for Down's syndrome.
TLDR
First-trimester combined screening at 11 weeks of gestation is better than second- Trimester quadruple screening but at 13 weeks has results similar to second- trimester quadruples screening.
MATERNAL SERUM ALPHA-FETOPROTEIN MEASUREMENT: A SCREENING TEST FOR DOWN SYNDROME
The median maternal serum alpha-fetoprotein (AFP) level at 14-20 weeks' gestation in 61 pregnancies associated with Down syndrome was 0.72 multiples of the median (MoM) value for a series of 36 652
An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities.
TLDR
It is proposed that a low level of maternal serum alpha-fetoprotein obtained through routine screening may prove to be valuable in improving the prenatal detection of these serious anomalies.
A model for disclosing the first trimester part of an integrated Down's syndrome screening test
TLDR
This model obviates the ethical, clinical, and financial implications of further assessing about 60% of the affected pregnancies and yields a 60% detection rate and without any increase in the false‐positive results.
An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities
Abstract An index case of “undetectable” maternal serum α-fetoprotein at 16 weeks in the first pregnancy of a 28-year-old woman was associated with birth of an infant with trisomy 18. This fortuitous
...
1
2
...