Screening for fetal trisomy 21 in gestational weeks 6 and 7

Madsen, Helen Nordahl; Petersen, Olav Bjørn; Tørring, Niels

doi:10.3109/00016349.2010.489600

Cited by 3 publications

(4 citation statements)

References 12 publications

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“…A hypothetical overestimated GA could potentially have resulted in a lower PAPP-A MoM among T1DM pregnancies due to a larger fetus for gestational age measured by CRL, given that the PAPP-A median increases with GA (15). This is in accordance with the fact that no difference was observed for free β-hCG, which is less dependent on GA (15). According to the present data, the difference in PAPP-A MoM was not caused by different calculations of GA. For both groups, GA was approximately one day more advanced based on LMP compared to GA by CRL.…”

Section: Discussionmentioning

confidence: 99%

“…A hypothetical overestimated GA could potentially have resulted in a lower PAPP‐A MoM among T1DM pregnancies due to a larger fetus for gestational age measured by CRL, given that the PAPP‐A median increases with GA (15). This is in accordance with the fact that no difference was observed for free β‐hCG, which is less dependent on GA (15).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Impact of type 1 diabetes and glycemic control on fetal aneuploidy biochemical markers

Madsen¹,

Ekelund²,

Tørring³

et al. 2011

Acta Obstet Gynecol Scand

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Impact of type 1 diabetes and glycemic control on fetal aneuploidy biochemical markers

Madsen¹,

Ekelund²,

Tørring³

et al. 2011

Acta Obstet Gynecol Scand

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“…In these 15 cases, the corrected median MoM values for PAPP-A and FβhCG for gestational weeks 6 and 7 were calculated based on the medians from a previous paper [18], and thereafter included in the dataset. As shown in table 1, the weekly median MoM values for PAPP-A were almost constant around 0.35-0.39 MoM in gestational weeks 6-11 and increased to 0.49 MoM in weeks 12-13.…”

Section: Resultsmentioning

confidence: 99%

“…Results of the blood samples taken from gestational weeks 6+0 to 7+6 were obtained from the LABKA database (CSCs laboratory information system, Computer Sciences Corporation, Scandihealth A/S, Denmark). Calculation of MoM values for these blood samples was done applying the normal median and using similar correction factors for maternal weight, smoking and ethnicity as described in Madsen et al [18]. Prior to 2010, the risk for fetal aneuploidy in twin pregnancies was calculated based on maternal age and nuchal translucency only.…”

Section: Methodsmentioning

confidence: 99%

Ten Years of Experience with First-Trimester Screening for Fetal Aneuploidy Employing Biochemistry from Gestational Weeks 6+0 to 13+6

Tørring¹,

Petersen²,

Uldbjerg³

2014

Fetal Diagn Ther

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Objectives: To validate the performance of first-trimester screening for fetal aneuploidy employing blood samples drawn in gestational weeks 6-13. Methods: Prospective combined first-trimester screening for fetal aneuploidy in Denmark was validated in two large datasets: (1) a dataset from the Central Denmark Region including 147,768 pregnancies from October 2003 to October 2013, and (2) a national dataset including 220,739 pregnancies from January 2008 to August 2011. Results: For trisomy 21, the weekly median multiple of the median (MoM) increased from 0.37 in week 6 to 0.70 in week 13 (pregnancy-associated plasma protein-A), and from 0.99 in week 6 to 2.68 in week 13 (free βhCG). The overall detection rate (DR) for fetal trisomy 21 was 91.2%. Employing blood samples from gestational week 9, the DR was 97% (p = 0.05). For fetal trisomy 18, trisomy 13 and triploidy, the overall DRs after first-trimester screening were 79.5, 86 and 85%. In the national dataset, the overall DR for trisomy 21 was 86.3% ranging from 89 (weeks 9 and 10) to 80% (weeks 12 and 13). Conclusion: The results from both datasets show that blood sampling in gestational weeks 9-10 is a robust and high-performance strategy, which can be applied for routine first-trimester screening in clinical practice.

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First trimester combined screening – focus on early biochemistry

Tørring

2016

Scandinavian Journal of Clinical and Laboratory Investigation

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First trimester combined screening (cFTS) for foetal trisomy 21 has become an established method in many countries. The screening is based on a combination of maternal-age-related risk, ultrasound (nuchal translucency) and two maternal serum biochemical markers, free beta human chorionic gonadotropin (FbhCG) and pregnancy associated plasma protein A (PAPP-A). The concentrations of these biochemical markers are affected by several maternal and pregnancy factors, which are discussed herein. Improvements in the algorithm have extended the screening to include trisomy 21 in mono- and dichorionic twin pregnancies, trisomy 18, trisomy 13 and triploidy. The results from large databases have shown that the screening algorithms are efficient for a range of rare autosomal trisomies and marker chromosomes and for a broad range of other chromosomal aberrations. Recent data show that the strength of the individual markers is highly dependent on the gestational age of sampling and indicate a general increase in the performance of the screening for trisomy 21 when using blood samples from early in the first trimester at gestational age 8-10 weeks.

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Screening for fetal trisomy 21 in gestational weeks 6 and 7

Cited by 3 publications

References 12 publications

Impact of type 1 diabetes and glycemic control on fetal aneuploidy biochemical markers

Impact of type 1 diabetes and glycemic control on fetal aneuploidy biochemical markers

Ten Years of Experience with First-Trimester Screening for Fetal Aneuploidy Employing Biochemistry from Gestational Weeks 6+0 to 13+6

First trimester combined screening – focus on early biochemistry

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