Second trimester serum tests for Down's Syndrome screening

Alldred, S Kate; Deeks, Jonathan J; Guo, Boliang; Neilson, James P; Alfirević, Z̄arko

doi:10.1002/14651858.cd009925

Cited by 55 publications

(55 citation statements)

References 460 publications

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“…In order to obtain the regressive medians of free β-HCG and AFP in Nanjing, curve regression analysis was performed, and the best curve regression equations among these were obtained. The equation for free β-HCG was y=-0.039212963x 3 (Fig. 1B, R 2 =0.999).…”

Section: Resultsmentioning

confidence: 99%

“…The authors also reported that the detection of two or three indicators (AFP, uE3, total or free β-HCG) was better compared with that of any single indicator, and the detection rate was 60-70%, with a false-positive rate of 5%. In addition, it was demonstrated that the quadruple testing with AFP, HCG, uE3 and inhibin-A had the highest diagnostic yield, but there was no significant advantage when compared with the traditional triple test (AFP, uE3 and HCG) (3). It has been widely recognized that different serum markers, cut-off values of risks, or the determination of multiples of the median, may all affect the detection rate.…”

Section: Introductionmentioning

confidence: 99%

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Combined detection of α-fetoprotein and free β-human chorionic gonadotropin in screening for trisomy 21 and management of cases in the moderate risk value range

Zhang

Sun

et al. 2017

Molecular and Clinical Oncology

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Abstract. Down syndrome is the most common cause of prenatal chromosomal abnormalities, and prenatal serum screening is an effective method for decreasing the birth prevalence of children with Down syndrome. The aim of the present study was to observe the effect of duplex screening and investigate the treatment of cases under specific conditions. The medians of free β-human chorionic gonadotropin (HCG) and α-fetoprotein (AFP) were calculated and compared with those embedded in the 2T software. The detection and false-positive rates were analyzed under different conditions, and the distribution of Down syndrome cases was investigated in different risk ranges. Finally, suitable recommendations for further diagnostic investigation were provided according to the status of each individual. The medians of free β-HCG and AFP were found to differ from the corresponding medians embedded in the 2T software (P<0.01), and on the basis of a 5% false-positive rate, the detection rate would increase from 63.6 to 67.8% when compared with medians embedded in the 2T software, indicating we should establish our own medians of free β-HCG and AFP. In addition, residual cases (risk value <1/300) with relevant Down syndrome indications mainly concentrated at risk values between 1/1,000 and 1/300, and partial residual screening cases were verified through diverse methods. These findings indicated that different laboratories should establish their own medians; furthermore, what is classed as moderate risk is extremely important in screening for Down syndrome and reasonable recommendations may be offered under different conditions.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Combined detection of α-fetoprotein and free β-human chorionic gonadotropin in screening for trisomy 21 and management of cases in the moderate risk value range

Zhang

Sun

et al. 2017

Molecular and Clinical Oncology

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“…Lower sensitivity occurred in women above 35 years of age. 15 When the amniocentesis results of the patients were reviewed by Danisman N et al as numerically normal or abnormal; 40 (2.7%) of 1456 amniocentesis procedures performed for advanced maternal age, 5 (0.9%) of 531 procedures performed for an increased double-test risk and 14 (1.3%) of 1095 procedures performed for an increased triple test risk were found to have chromosomal aneuploidy. 16 Stenhouse EJ found that the detection rate for Down syndrome was 93% (14/15) at a false-positive rate of 5.9% and for all chromosome abnormalities it was 96% (25/26) at an overall false-positive rate of 6.3%.…”

Section: Resultsmentioning

confidence: 99%

Antenatal screening for aneuploidy

Patne¹,

Upadhye

Shembekar

et al. 2017

Int J Reprod Contracept Obstet Gynecol

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Background: It is uncertain how best to screen pregnant women for the presence of fetal Down's syndrome and other aneuploides, whether to perform first-trimester screening or to perform second-trimester screening or both.Methods: Women with singleton and multiple pregnancies underwent first-trimester combined screening (measurement of nuchal translucency, pregnancy-associated plasma protein A [PAPP-A], and the free beta subunit of human chorionic gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation). Also, second-trimester quadruple screening (measurement of alpha-fetoprotein, total human chorionic gonadotropin, unconjugated estriol, and inhibin A) and triple marker test was done from 15 to 18 weeks of gestation.Results: 12 (5%) patients had positive screening test for combined screening in first trimester, 6 (10.9%) patients had positive screening for quadruple test while 1 (2.85%) patients had positive screening for triple test. Out of 19 positive screening, 16 (84.21%) had their amniocentesis done for confirmation of diagnosis. In all 16 patients, chromosomal analysis was normal. Not a single patient turned out to have a baby with Down syndrome or any other aneuploidy. False positive rate for combined screening in first trimester was 5%, false positive rate for quadruple test in second trimester was 10.9%, false positive rate for triple marker test in second trimester was 2.85%.Conclusions: First-trimester combined screening is better than second-trimester quadruple test or triple marker test for syndrome or any other aneuploidy.

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“…DHEA sulfate is also converted to 16α-hydroxy DHEA sulfate in the fetal liver, via 16α-hydroxylase, and subsequently converted to estriol (>60mg/day during the third trimester of human gestation) in the placenta (Figure 3). Whilst decreased levels of estriol in maternal circulation have been used as a marker for Down and trisomy 18 syndromes, pregnancy loss, as well as gross neural tube defects such as anencephaly [78], the role of perturbed DHEA and estriol sulfonation in modifying maternal estriol levels and possibly human fetal development, awaits further investigation.…”

Section: Steroid Sulfates In Pregnancymentioning

confidence: 99%

The Biological Roles of Steroid Sulfonation

Dawson¹

2012

Steroids - From Physiology to Clinical Medicine

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Second trimester serum tests for Down's Syndrome screening

Cited by 55 publications

References 460 publications

Combined detection of α-fetoprotein and free β-human chorionic gonadotropin in screening for trisomy 21 and management of cases in the moderate risk value range

Combined detection of α-fetoprotein and free β-human chorionic gonadotropin in screening for trisomy 21 and management of cases in the moderate risk value range

Antenatal screening for aneuploidy

The Biological Roles of Steroid Sulfonation

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