First‐trimester combined screening for trisomy 21 in a predominantly Chinese population

Leung, Tak Yeung; Chan, Lin Wai; Leung, Tse Ngong; Fung, Tung; Sahota, Daljit Singh; Spencer, Kevin; Lau, Tze Kin

doi:10.1002/uog.3893

Cited by 34 publications

(41 citation statements)

References 22 publications

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“…Unlike first-trimester combined Down syndrome screening that requires intensive training and effort in ultrasound measurement and a stringent algorithm in risk calculation to achieve a 90% detection rate with a 5% false-positive rate, [21][22][23][24] screening for fragile X carriers is relatively simple by a maternal blood test and is thus acceptable to most women. It can also be done before conception.…”

Section: Discussionmentioning

confidence: 99%

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis

et al. 2017

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Section: Discussionmentioning

confidence: 99%

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis

et al. 2017

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“…86.5%) is comparable to the rates published for Caucasian (2,3,5,10,20) and Chinese populations. (21)(22)(23) This may be attributed to our centres' strict adherence to the screening guidelines established by the FMF, (19) which includes regular training and auditing of certified antenatal ultrasound sonographers. In addition, FTS attained 90.9% and 100.0% detection rates for trisomies 18 and 13, respectively, in the present study.…”

Section: Discussionmentioning

confidence: 99%

“…This is especially since the proportion of pregnant women of advanced maternal age, defined as age 35 years and above in most countries, has increased in the past decade. It is unclear whether the widely published detection rates in the literature can be universally applied to women of all ages, especially those of advanced maternal age, as they appear to have a higher risk for fetal trisomy 21.…”

Section: Introductionmentioning

confidence: 99%

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

Li¹,

Barrett²,

Gole³

et al. 2015

smedj

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INTRODUCTIONFirst trimester screening (FTS) is a validated screening modality for major chromosomal aneuploidies (i.e. trisomies 21, 18 and 13).(1-3) Using a combination of maternal age, fetal nuchal translucency thickness, maternal levels of serum free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A), FTS has been shown to achieve a detection rate of 84%-90%, with a false positive rate of 5%.(4-6) Although FTS has been adopted in many countries as the first-line screening for trisomy 21 (i.e. Down syndrome), its effectiveness in women of different ages has not been adequately assessed. A recent observational study reported that FTS is less effective in women aged < 35 years and that a greater number of invasive procedures needs to be performed in this group of women to diagnose a case of trisomy 21.(7) This finding is contrary to reports on other Caucasian populations. (8)(9)(10) If the performance of FTS varies in women of different ages, it is clinically pertinent that these variations are understood. This is especially since the proportion of pregnant women of advanced maternal age, defined as age 35 years and above in most countries, has increased in the past decade. It is unclear whether the widely published detection rates in the literature can be universally applied to women of all ages, especially those of advanced maternal age, as they appear to have a higher risk for fetal trisomy 21.There has been a growing body of evidence regarding the high negative predictive value of noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) and its potential to reduce iatrogenic fetal loss. (11)(12)(13)(14) Several countries have already started to recommend the use of NIPT using cfDNA for contingent screening in women who are at a higher risk of a fetus with trisomy 21, including women of advanced maternal age. (15)(16)(17)(18) There is, however, a lack of information regarding the potential incremental costs that follow contingent screening, especially in Singapore.The objectives of the present study were to assess the performance of FTS in an ethnically mixed population for the detection of fetal trisomy 21, and to compare the effectiveness of FTS in women of advanced maternal age (i.e. ≥ 35 years) with that of FTS in women aged < 35 years. We also aimed to determine the incremental cost of detecting one case of trisomy 21 if NIPT was offered to all women who had intermediate-or high-risk scores following FTS.

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“…A previous study on a large group of ethnic Chinese showed that the NT sonographic marker was not significantly different from that in the Caucasian populations in the first trimester [8]. A mixture model of NT thickness used for the screening of chromosome abnormalities and fetal NT followed standard distributions.…”

Section: Discussionmentioning

confidence: 99%

“…Ultrasound measurement of the fetal NT, the presence or absence of the NB, tricuspid and ductus venosus flow were performed by accredited and registered medical doctors and sonographers according to established standards of the Fetal Medicine Foundation, London UK (FMF) [7,8]. Four study groups were randomized under the FMF accreditors.…”

Section: Methodsmentioning

confidence: 99%

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

Hsiao¹,

Cheng²,

Shaw³

et al. 2014

Fetal Diagn Ther

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Objective: To examine the performance of first-trimester screening test combining several fetal sonographic and maternal biochemical markers for major aneuploidy in a Chinese population. Methods: This was a prospective study performed over 5 years between January 2005 and December 2010 in Taiwan, with 20,586 cases that had a combination of a variety of sonographic markers and maternal serological β-human chorionic gonadotropin and pregnancy-associated plasma protein-A levels assessed at first trimester screening between 11⁺⁰ and 13⁺⁶ weeks of gestation. The risk of aneuploidy was calculated using algorithm software developed by Fetal Medicine Foundation, London. Fetal karyotyping was performed when the prenatal screening showed a risk of 1/300 or higher. All cases were followed for fetal outcome. Results: The study population was divided into four groups according to the screening strategy performed. The combination of maternal serological biochemistry and nuchal translucency measurement had a 66.7% detection rate of trisomy 21. Addition of nasal bone status increased the detection rate of trisomy 21 to 88.2%. Inclusion of tricuspid regurgitation flow showed an 87.5% detection rate of trisomy 21. Further inclusion of ductus venosus flow increased the detection rate of trisomy 21 to 100%. Incorporating more markers greatly increased the detection rate and decreased the false-positive rate (FPR). Conclusion: Extension of first-trimester screening to include more sonographic markers greatly increased the sensitivity and decreased FPR for detection of chromosomal abnormalities. Such screening strategy is effective in clinical practice for the Chinese ethnic population.

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First‐trimester combined screening for trisomy 21 in a predominantly Chinese population

Abstract: ABSTRACT

Cited by 34 publications

References 22 publications

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study

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