Skip to main content
Erschienen in: Archives of Gynecology and Obstetrics 3/2015

01.09.2015 | Maternal-Fetal Medicine

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center

verfasst von: Gwendolin Manegold-Brauer, C. Berg, A. Flöck, A. Rüland, U. Gembruch, A. Geipel

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 3/2015

Einloggen, um Zugang zu erhalten

Abstract

Purpose

The introduction of non-invasive prenatal testing (NIPT) by isolation of cell-free fetal DNA from maternal blood is a new diagnostic option in prenatal care. The aim of the study was to investigate the algorithm of prenatal testing before and after the introduction of NIPT in a tertiary referral center and to investigate the influence of NIPT on the frequency of invasive procedures.

Methods

Retrospective data analysis was conducted of all singleton pregnancies that presented for first trimester screening 17 months before and after the introduction of NIPT (n = 2271). Women were categorized into three risk groups: low risk for trisomy 21 (<1:1000), intermediate risk (1:101–1:1000) and high risk (≥1:100). The choice of diagnostic testing after FTS was analyzed.

Results

1093 (group 1) presented before and 1178 (group 2) after the introduction of NIPT. The rate of high-risk patients was equal in both groups (14.4 vs. 15.4 %). No differences were found with regard to invasive testing (11.6 vs. 11.3 %). NIPT was chosen by 3.7 % (44/1178) in group 2. Of those with NIPT, 72.7 % had a risk estimate of <1:100, but 90.9 % were ≥35 years old. The rate of NIPT among high-risk patients with a normal ultrasound examination was 25 %.

Conclusion

At present, NIPT is chosen mainly for reassurance by patients not considered to be at high risk. In the high-risk group, NIPT can be offered if the ultrasound examination is normal and the risk is high due to maternal age or serum screening alone. The rate of invasive testing was not reduced in this selected population.
Literatur
1.
Zurück zum Zitat Bianchi DW, Wilkins-Haug L (2014) Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 60(1):78–87PubMedCrossRef Bianchi DW, Wilkins-Haug L (2014) Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 60(1):78–87PubMedCrossRef
2.
Zurück zum Zitat Chiu RWK, Lo YMD (2013) Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research. Clin Chem Lab Med 51(1):197–204PubMed Chiu RWK, Lo YMD (2013) Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research. Clin Chem Lab Med 51(1):197–204PubMed
3.
Zurück zum Zitat Sehnert AJ, Rava RP, Bianchi DW (2013) A new era in noninvasive prenatal testing. N Engl J Med 369(22):2164–2165PubMedCrossRef Sehnert AJ, Rava RP, Bianchi DW (2013) A new era in noninvasive prenatal testing. N Engl J Med 369(22):2164–2165PubMedCrossRef
4.
Zurück zum Zitat Bianchi DW, Oepkes D, Ghidini A (2014) Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? Prenat Diagn 34(1):6–11PubMedCrossRef Bianchi DW, Oepkes D, Ghidini A (2014) Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? Prenat Diagn 34(1):6–11PubMedCrossRef
5.
Zurück zum Zitat Kagan KO, Eiben B, Kozlowski P (2014) Kombiniertes Ersttrimesterscreening und zellfreie fetale DNA: “Next Generation Screening”. Ultraschall Med 35(3):229–236PubMedCrossRef Kagan KO, Eiben B, Kozlowski P (2014) Kombiniertes Ersttrimesterscreening und zellfreie fetale DNA: “Next Generation Screening”. Ultraschall Med 35(3):229–236PubMedCrossRef
6.
Zurück zum Zitat Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH (2014) Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 35(3):174–184PubMedCrossRef Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH (2014) Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 35(3):174–184PubMedCrossRef
7.
Zurück zum Zitat Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM (2013) First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 42(1):41–50PubMedCrossRef Nicolaides KH, Wright D, Poon LC, Syngelaki A, Gil MM (2013) First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing. Ultrasound Obstet Gynecol 42(1):41–50PubMedCrossRef
8.
Zurück zum Zitat Devers P, Cronister A, Ormond K, Facio F, Brasington C, Flodman P (2013) Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J Genet Couns. 22(3):291–295PubMedCrossRef Devers P, Cronister A, Ormond K, Facio F, Brasington C, Flodman P (2013) Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J Genet Couns. 22(3):291–295PubMedCrossRef
9.
Zurück zum Zitat Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B et al (2013) Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 33(7):622–629PubMedCrossRef Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B et al (2013) Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 33(7):622–629PubMedCrossRef
10.
Zurück zum Zitat Committee Opinion No. 545 (2012) Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 120(6):1532–1534CrossRef Committee Opinion No. 545 (2012) Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 120(6):1532–1534CrossRef
11.
Zurück zum Zitat Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 34(1):14–18PubMedCrossRef Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 34(1):14–18PubMedCrossRef
12.
Zurück zum Zitat Ekelund CK, Jørgensen FS, Petersen OB, Sundberg K, Tabor A (2008) Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ 337:a2547PubMedCentralPubMedCrossRef Ekelund CK, Jørgensen FS, Petersen OB, Sundberg K, Tabor A (2008) Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ 337:a2547PubMedCentralPubMedCrossRef
13.
Zurück zum Zitat Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K et al (2003) First-trimester screening for trisomies 21 and 18. N Engl J Med 349(15):1405–1413PubMedCrossRef Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K et al (2003) First-trimester screening for trisomies 21 and 18. N Engl J Med 349(15):1405–1413PubMedCrossRef
14.
Zurück zum Zitat Hagen A, Entezami M, Gasiorek-Wiens A, Albig M, Becker R, Knoll U et al (2011) The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age. Ultraschall Med 32(3):302–306PubMedCrossRef Hagen A, Entezami M, Gasiorek-Wiens A, Albig M, Becker R, Knoll U et al (2011) The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age. Ultraschall Med 32(3):302–306PubMedCrossRef
15.
Zurück zum Zitat Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA (1994) Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med 330(16):1114–1118PubMedCrossRef Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA (1994) Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. N Engl J Med 330(16):1114–1118PubMedCrossRef
16.
Zurück zum Zitat Wray AM, Ghidini A, Alvis C, Hodor J, Landy HJ, Poggi SH (2005) The impact of first-trimester screening on AMA patients’ uptake of invasive testing. Prenat Diagn 25(5):350–353PubMedCrossRef Wray AM, Ghidini A, Alvis C, Hodor J, Landy HJ, Poggi SH (2005) The impact of first-trimester screening on AMA patients’ uptake of invasive testing. Prenat Diagn 25(5):350–353PubMedCrossRef
17.
Zurück zum Zitat Geipel A, Daiss T, Katalinic A, Germer U, Kohl T, Krapp M et al (2007) Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center. Ultraschall Med 28(1):67–70PubMedCrossRef Geipel A, Daiss T, Katalinic A, Germer U, Kohl T, Krapp M et al (2007) Changing attitudes towards non-invasive aneuploidy screening at advanced maternal age in a German tertiary care center. Ultraschall Med 28(1):67–70PubMedCrossRef
18.
Zurück zum Zitat Lüthgens K, Merz E, Hackelöer BJ, Thode C, Eiben B, Kagan KO (2013) Comparison of three first trimester screening algorithms for trisomy 21 with and without adjustment for maternal characteristics. Ultraschall Med 34(2):151–156PubMed Lüthgens K, Merz E, Hackelöer BJ, Thode C, Eiben B, Kagan KO (2013) Comparison of three first trimester screening algorithms for trisomy 21 with and without adjustment for maternal characteristics. Ultraschall Med 34(2):151–156PubMed
19.
Zurück zum Zitat Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31(1):7–15PubMedCrossRef Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31(1):7–15PubMedCrossRef
20.
Zurück zum Zitat Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH (2008) First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 31(5):493–502PubMedCrossRef Kagan KO, Wright D, Spencer K, Molina FS, Nicolaides KH (2008) First-trimester screening for trisomy 21 by free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A: impact of maternal and pregnancy characteristics. Ultrasound Obstet Gynecol 31(5):493–502PubMedCrossRef
21.
Zurück zum Zitat Chiu R, Akolekar R, Zheng YWL, Leung T, Sun H, Chan K et al (2011) Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 432:c7401CrossRef Chiu R, Akolekar R, Zheng YWL, Leung T, Sun H, Chan K et al (2011) Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 432:c7401CrossRef
22.
Zurück zum Zitat Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R et al (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204(205):e1–e11 Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R et al (2011) Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 204(205):e1–e11
23.
Zurück zum Zitat Sparks AB, Struble CA, Wang ET, Song K, Oliphant A (2012) Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 206(322):e1–e5PubMed Sparks AB, Struble CA, Wang ET, Song K, Oliphant A (2012) Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 206(322):e1–e5PubMed
24.
Zurück zum Zitat Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M et al (2011) DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med Off J Am Coll Med Genet. 13:913–920 Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M et al (2011) DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med Off J Am Coll Med Genet. 13:913–920
25.
Zurück zum Zitat Chen E, Chiu RWK, Sun H, Akolekar R, Chan K, Leung T et al (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6(7):e21791PubMedCentralPubMedCrossRef Chen E, Chiu RWK, Sun H, Akolekar R, Chan K, Leung T et al (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 6(7):e21791PubMedCentralPubMedCrossRef
26.
Zurück zum Zitat Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119:1–13CrossRef Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119:1–13CrossRef
27.
Zurück zum Zitat Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB et al (2012) Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207:1–8CrossRef Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB et al (2012) Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207:1–8CrossRef
28.
Zurück zum Zitat Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH et al (2013) A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 33(7):707–710PubMedCrossRef Guex N, Iseli C, Syngelaki A, Deluen C, Pescia G, Nicolaides KH et al (2013) A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 33(7):707–710PubMedCrossRef
29.
Zurück zum Zitat Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH (2014) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 35(3):156–173PubMedCrossRef Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH (2014) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 35(3):156–173PubMedCrossRef
30.
Zurück zum Zitat Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V et al (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20(5):521–526PubMedCentralPubMedCrossRef Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V et al (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20(5):521–526PubMedCentralPubMedCrossRef
31.
Zurück zum Zitat Chetty S, Garabedian MJ, Norton ME (2013) Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 33(6):542–546PubMedCrossRef Chetty S, Garabedian MJ, Norton ME (2013) Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 33(6):542–546PubMedCrossRef
32.
Zurück zum Zitat Friel LA, Czerwinski JL, Singletary CN (2014) The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. Am J Perinatol 31(9):759–764PubMed Friel LA, Czerwinski JL, Singletary CN (2014) The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. Am J Perinatol 31(9):759–764PubMed
33.
Zurück zum Zitat Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH (2006) Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 107(1):6–10PubMedCrossRef Kagan KO, Avgidou K, Molina FS, Gajewska K, Nicolaides KH (2006) Relation between increased fetal nuchal translucency thickness and chromosomal defects. Obstet Gynecol 107(1):6–10PubMedCrossRef
34.
Zurück zum Zitat Manegold-Brauer G, Kang Bellin A, Hahn S, De Geyter C, Buechel J, Hoesli I et al (2014) A new era in prenatal care: non-invasive prenatal testing (NIPT) in Switzerland. Swiss Med Wkly. 144:w13915PubMed Manegold-Brauer G, Kang Bellin A, Hahn S, De Geyter C, Buechel J, Hoesli I et al (2014) A new era in prenatal care: non-invasive prenatal testing (NIPT) in Switzerland. Swiss Med Wkly. 144:w13915PubMed
35.
Zurück zum Zitat Platt LD, Janicki MB, Prosen T, Goldberg JD, Adashek J, Figueroa R et al (2014) Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States. Am J Obstet Gynecol 211(4):368.e1–368.e7CrossRef Platt LD, Janicki MB, Prosen T, Goldberg JD, Adashek J, Figueroa R et al (2014) Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States. Am J Obstet Gynecol 211(4):368.e1–368.e7CrossRef
36.
Zurück zum Zitat Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH (2013) Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 42(1):34–40PubMedCrossRef Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH (2013) Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 42(1):34–40PubMedCrossRef
Metadaten
Titel
Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center
verfasst von
Gwendolin Manegold-Brauer
C. Berg
A. Flöck
A. Rüland
U. Gembruch
A. Geipel
Publikationsdatum
01.09.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Archives of Gynecology and Obstetrics / Ausgabe 3/2015
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-015-3674-5

Weitere Artikel der Ausgabe 3/2015

Archives of Gynecology and Obstetrics 3/2015 Zur Ausgabe

Gynecologic Endocrinology and Reproductive Medicine

Giant oocytes in human in vitro fertilization treatments

Gestationsdiabetes: In der zweiten Schwangerschaft folgenreicher als in der ersten

13.05.2024 Gestationsdiabetes Nachrichten

Das Risiko, nach einem Gestationsdiabetes einen Typ-2-Diabetes zu entwickeln, hängt nicht nur von der Zahl, sondern auch von der Reihenfolge der betroffenen Schwangerschaften ab.

Embryotransfer erhöht womöglich Leukämierisiko der Kinder

13.05.2024 Assistierte Reproduktion Nachrichten

Reproduktionsmedizinische Techniken haben theoretisch das Potenzial, den epigenetischen Code zu verändern und somit das Krebsrisiko der Kinder zu erhöhen. Zwischen Embryotransfer und Leukämie scheint sich ein solcher Zusammenhang bestätigt zu haben.

Alter verschlechtert Prognose bei Endometriumkarzinom

11.05.2024 Endometriumkarzinom Nachrichten

Ein höheres Alter bei der Diagnose eines Endometriumkarzinoms ist mit aggressiveren Tumorcharakteristika assoziiert, scheint aber auch unabhängig von bekannten Risikofaktoren die Prognose der Erkrankung zu verschlimmern.

Darf man die Behandlung eines Neonazis ablehnen?

08.05.2024 Gesellschaft Nachrichten

In einer Leseranfrage in der Zeitschrift Journal of the American Academy of Dermatology möchte ein anonymer Dermatologe bzw. eine anonyme Dermatologin wissen, ob er oder sie einen Patienten behandeln muss, der eine rassistische Tätowierung trägt.

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.