First‐Trimester Sonographic Screening for Down Syndrome

@article{Malone2003FirstTrimesterSS,
  title={First‐Trimester Sonographic Screening for Down Syndrome},
  author={Fergal Desmond Malone and Mary E. D'Alton},
  journal={Obstetrics \& Gynecology},
  year={2003},
  volume={102},
  pages={1066–1079}
}
Screening for Down syndrome is an important part of routine antenatal care. The most common screening method in the United States involves the assessment of a combination of factors: maternal age, multiple second-trimester serum markers, and second-trimester ultrasonography (as a so-called “genetic sonogram”). More recently, however, there has been significant interest in first-trimester methods of screening, including screening for first-trimester serum markers and the sonographic measurement… 
[Screening for Down syndrome using first-trimester combined screening followed by second trimester ultrasound examination in an unselected population].
TLDR
It is suggested that one pragmatic interventional two-step approach using first-trimester combined screening followed by second trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy.
First trimester Down syndrome screening: public health implications.
TLDR
Future efforts to improve prenatal screening should continue to emphasize the need for improved access to all aspects of prenatal care, stress the importance of provider education and the necessity for extensive patient counseling, and reinforce the role of patient education and choice.
First-trimester Down syndrome screening: component analytes and timing for optimal performance.
TLDR
Because enlarged NT has been associated with cardiac defects and other structural anomalies, even in euploid fetuses, its presence should prompt a targeted second trimester ultrasound examination.
Additional benefits of first trimester screening.
The goal of first trimester screening for aneuploidy is to provide patients their risk assessment for fetal Down syndrome. Nonetheless, it has been noted that combined screening offers physicians and
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 secondtrimester quadruple screening but at 13 weeks has results similar to second-tr pregnancy quadruple screened, except for the comparison between serum integrated screening and combined screening.
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
TLDR
To estimate and compare the accuracy of first trimester ultrasound markers alone, and in combination with firsttrimester serum tests for the detection of Down's syndrome, and the impact of maternal age on test performance in subgroup analyses is investigated.
First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening.
TLDR
The accuracy of first and second trimester serum markers with and without first trimester ultrasound markers for the detection of Down's syndrome in the antenatal period is estimated and compared, as combinations of markers.
Ultrasound Markers of Aneuploidy in the First Trimester
TLDR
The early diagnosis of fetal chromosomal aberrations makes the termination of the pregnancy possible with fewer complications, and there is time for planning of further follow-up and interventions.
First- and Second-Trimester Screening: Detection of Aneuploidies Other Than Down Syndrome
TLDR
First-trimester Down syndrome screening protocols can detect the majority of cases of non-Down aneuploidies, and addition of a trisomy 18–specific risk algorithm in the second trimester achieves high detection rates for aneuPLoidies other than Down syndrome.
Down syndrome screening in twins.
TLDR
Patients accepting screening for Down syndrome in twin gestations should be aware of all options should a diagnosis of fetal aneuploidy be confirmed, including pregnancy continuation, termination of the entire pregnancy, and selective termination of an aneuPLoid fetus.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 71 REFERENCES
First-trimester screening for aneuploidy: research or standard of care?
TLDR
Until the results of two major trials are available, the current standard of care with respect to Down syndrome screening should not be changed, and first-trimester screening should remain investigational.
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.
Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland
TLDR
In Eastern and Northern Finland, during the year 1999, first-trimester ultrasonographic and serum screening for trisomy 21 was offered, with measurements of maternal serum PAPP-A and β-hCG, yielding the detection of eight foetuses with Down's syndrome.
Screening of maternal serum for fetal Down's syndrome in the first trimester.
TLDR
Screening for Down's syndrome in the first trimester is feasible, with use of measurements of pregnancy-associated protein A and either hCG or its free beta subunit in maternal serum.
Assessment of the value of reporting partial screening results in prenatal screening for Down syndrome
TLDR
It is found that the value of providing partial results when using the Combined Test or Integrated Test to identify women with a high enough risk of having an affected pregnancy based on NT and maternal age alone such that there would be little advantage in combining this information with data on the serum markers.
First-trimester Down's syndrome screening by fetal nuchal translucency measurement in Taiwan.
TLDR
This study showed that NT measurement is a potential screening tool for Down's syndrome during the first trimester in Taiwan using CRL-related cut-off points for screening is more reasonable than using a fixed cut-offs point.
Combined measurement of fetal nuchal translucency, maternal serum free beta-hCG, and pregnancy-associated plasma protein A for first-trimester Down's syndrome screening.
TLDR
It is demonstrated that Down's syndrome screening using the combined test in the first trimester had a higher detection rate than that of serum screening in the second trimester.
Estimation of risk in second trimester serum screening for Down syndrome among women who have already had first trimester screening
TLDR
The practice of offering second trimester serum screening to women who have already been screened for Down syndrome is best avoided, because two tests would be less efficient than integrating all the screening information into a single test.
First trimester nuchal translucency: effective routine screening for Down's syndrome.
TLDR
First trimester nuchal translucency measurement is an effective method of screening for fetal chromosomal abnormality in routine ultrasound screening for Down's syndrome.
NUCHAL TRANSLUCENCY CANNOT BE USED AS A SCREENING TEST FOR CHROMOSOMAL ABNORMALITIES IN THE FIRST TRIMESTER OF PREGNANCY IN A ROUTINE ULTRASOUND PRACTICE
TLDR
Although the efficacy of the test in a research setting may seem good, the effectiveness in everyday usage appears much less impressive, making its uptake as a screening technique in a general ultrasound practice at this stage imprudent.
...
1
2
3
4
5
...