First‐trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study

Borrell, Antoni; Casals, Elena; Fortuny, Albert; Farré, Marta; Goncé, Anna; Sánchez, Aurora; Soler, Anna; Cararach, Vicençc; Vanrell, J.A.

doi:10.1002/pd.949

Cited by 76 publications

(55 citation statements)

References 21 publications

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“…In France, as the prenatal screening includes three ultrasounds at 12, 22 and 32 WA, the interest of maternal AFP was to alert of a NTD at about 16 WA, before the 22 WA ultrasound; in our study, among the 100 prenatally diagnosed spina bifida, we could identify 27 cases for whom abnormal AFP constituted the first indicator of NTD leading to advance the date of ultrasound. Nowadays, AFP is progressively being abandoned considering the migration to first-trimester combined screening and it will be interesting to study the impact on NTD prenatal diagnosis in the future [52]. …”

Section: Discussionmentioning

confidence: 99%

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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“…Screening for biochemical testing and ultrasound scanning can also be carried out in two separate visits, with the first done at 9-10 weeks and the second at 12 weeks [44,47,48]. It has been estimated that this approach would improve the detection rate from 90 % to 93 to 94 %.…”

Section: Multiple Of Median (Mom)mentioning

confidence: 99%

First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome

Shiefa¹,

Amargandhi²,

Bhupendra³

et al. 2012

Ind J Clin Biochem

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The first trimester screening programme offers a noninvasive option for the early detection of aneuploidy pregnancies. This screening is done by a combination of two biochemical markers i.e. serum free b-human chorionic gonadotrophin (free b-hCG) and pregnancy associated plasma protein A (PAPP-A), maternal age and fetal nuchal translucency (NT) thickness at 11 ? 0-13 ? 6 weeks of gestation. A beneficial consequence of screening is the early diagnosis or trisomies 21, 18 and 13. At 11 ? 0-13 ? 6 weeks, the relative prevalence of trisomies 18 and 13 to trisomy 21 are found to be one to three and one to seven, respectively. All three trisomies are associated with increased maternal age, increased fetal NT and decreased PAPP-A, but in trisomy 21 serum free b-hCG is increased whereas in trisomies 18 and 13 free b-hCG is decreased.Prenatal screening for trisomies based on the analysis of biochemical markers in maternal serum has become an established part of obstetric practice in many countries. Resent interest in prenatal screening for trisomies has focused on the first trimester. Of the biochemical markers that have been investigated, only maternal serum free b-human chorionic gonadotrophin (free b-hCG) and pregnancy associated plasma protein-A (PAPP-A) has been shown to be of value. The goal of first trimester maternal serum screening programs is to identify women at increased risk of having a baby affected with Down syndrome, Patau syndrome, and Edward syndrome defects and those that will benefit from the testing.The association between advancing maternal age [1] and increased risk of trisomy 21 (Table 1) is well known, and pregnant women older than 35 years at delivery are routinely offered invasive prenatal diagnostic testing. The most commonly used test for genetic diagnosis is amniocentesis, but the rate of spontaneous fetal loss related to amniocentesis averages about one in every 200 [2] procedures. Because of this risk, serum analyte testing has become an important, noninvasive first step in detecting patients at risk for congenital abnormalities.Current studies done on first trimester maternal serum screening has shown that the double marker test helps to identify 90 % of women at risk for Down syndrome, 94 % of all major chromosomal defects such as Patau syndrome, Edward syndrome, triploidy and Turner syndrome, and 60 % of other chromosomal defects, such as deletions, partial trisomies, unbalanced translocations, and sex chromosome aneuploidies other than turners [3]. Some of the advantages of first-trimester biochemical screening over second trimester biochemical screening include providing clinicians and patients with the substantial advantage of an earlier diagnosis, higher detection rates for fetal Down syndrome i.e; 90 % [4] or even higher, compared to 80 % for the second trimester quadruple test [5,6] and 70 % for the older triple screening test [7], and detection of most major chromosome abnormalities other than trisomy 21. It also acts as a nonspecific marker for other birth defects inclu...

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“…From a methodological point of view, during the first period of the study Down syndrome was screened by a one-step protocol, with blood taken for maternal biochemistry the same day the ultrasound was performed. Published experiences 4,[28][29][30] and our own results have demonstrate a higher efficiency when biochemistry and ultrasound are assessed at individually established optimal gestational ages. As suggested by Spencer et al, screening algorithms modified to take account of the significant temporal variation in the screening markers should allow more accurate gestation-specifics risks.…”

Section: Discussionmentioning

confidence: 99%

Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

Echevarría¹,

Comas²,

Rodríguez³

et al. 2009

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Objective: To estimate the improvement in screening efficiency when ductus venosus (DV) Doppler studies are added to existing Down syndrome (DS) screening protocols.Methods: First-trimester combined screening for trisomy 21 was prospectively carried out, from October 2003 to March 2008, in 8842 consecutive singleton pregnancies attended in our tertiary reference center. The nuchal translucency (NT) and the pulsatility index for veins for DV were calculated. The maternal serum biochemistry was measured using the Kryptor analyzer, at the same time of the scan (one step strategy) or before it (two step strategy). The detection rate (DR) and false-positive rates for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated.Results: Successful DV assessment was possible in the 95.3% of cases, representing a total of 8426 cases. Down syndrome was identified in 34 pregnancies (prevalence of DS 1:250). For a fixed screen positive rate of 5%, the addition of the DV assessment improves the DR from 85 to 94% and, for a fixed DR of 85%, it reduces the number of unnecessary invasive tests from 3.7 to 3.2%. Conclusion:Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level test to reduce invasive test rate derived from the existing protocols.

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First‐trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study

Abstract: The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false-positive rate (3.3%).

Cited by 76 publications

References 21 publications

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome and Edward Syndrome

Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

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