First trimester combined screening in patients with systemic lupus erythematosus: impact of pre-analytical variables on risk assessment.
Adult
Chorionic Gonadotropin, beta Subunit, Human
/ blood
Down Syndrome
/ diagnosis
Female
Fetal Diseases
/ diagnosis
Humans
London
Lupus Erythematosus, Systemic
/ immunology
Nuchal Translucency Measurement
Pregnancy
Pregnancy Complications
Pregnancy Trimester, First
Pregnancy-Associated Plasma Protein-A
/ analysis
Prospective Studies
Risk Assessment
Trisomy 13 Syndrome
/ diagnosis
Trisomy 18 Syndrome
/ diagnosis
First trimester combined screening
Prenatal diagnosis
Systemic lupus erythematosus
Trisomies
Journal
Clinical rheumatology
ISSN: 1434-9949
Titre abrégé: Clin Rheumatol
Pays: Germany
ID NLM: 8211469
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
received:
20
01
2019
accepted:
18
03
2019
pubmed:
29
3
2019
medline:
4
12
2019
entrez:
29
3
2019
Statut:
ppublish
Résumé
Prenatal diagnosis of fetal trisomy 21 and other chromosomal abnormalities is based on invasive tests, such as amniocentesis and chorionic villus sampling, which are carried out in women identified through screening as being at high risk for these abnormalities. The most widely used method of screening is the first-trimester combined test which utilizes maternal age, and measurements of fetal nuchal translucency thickness (NT) and maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (hCG). To assess the influence of SLE on the levels of NT, PAPP-A, and β-hCG and whether any alterations in such levels may increase the rate of false positives and the subsequent number of invasive tests. This was a prospective first-trimester screening study for trisomies 21, 18, and 13 by a combination of maternal age, fetal nuchal translucency thickness, and serum PAPP-A and β-hCG at King's College Hospital, London, between March 2006 and February 2011. The study population included 47 cases with maternal SLE and 45,493 without SLE. The results of biomarkers in the SLE and non-SLE groups were compared. In the SLE group, compared to the non-SLE group, there were no significant differences in median maternal age, fetal NT, or serum PAPP-A MoM, but serum free β-hCG MoM was increased (1.402, IQR 0.872-2.290 vs 0.994, IQR 0.676-1.508). In first trimester screening for trisomies, the measured value of free ß-hCG should be adjusted for maternal SLE to avoid false positive results and overuse of invasive tests.
Sections du résumé
BACKGROUND
BACKGROUND
Prenatal diagnosis of fetal trisomy 21 and other chromosomal abnormalities is based on invasive tests, such as amniocentesis and chorionic villus sampling, which are carried out in women identified through screening as being at high risk for these abnormalities. The most widely used method of screening is the first-trimester combined test which utilizes maternal age, and measurements of fetal nuchal translucency thickness (NT) and maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (hCG).
OBJECTIVES
OBJECTIVE
To assess the influence of SLE on the levels of NT, PAPP-A, and β-hCG and whether any alterations in such levels may increase the rate of false positives and the subsequent number of invasive tests.
METHOD
METHODS
This was a prospective first-trimester screening study for trisomies 21, 18, and 13 by a combination of maternal age, fetal nuchal translucency thickness, and serum PAPP-A and β-hCG at King's College Hospital, London, between March 2006 and February 2011. The study population included 47 cases with maternal SLE and 45,493 without SLE. The results of biomarkers in the SLE and non-SLE groups were compared.
RESULTS
RESULTS
In the SLE group, compared to the non-SLE group, there were no significant differences in median maternal age, fetal NT, or serum PAPP-A MoM, but serum free β-hCG MoM was increased (1.402, IQR 0.872-2.290 vs 0.994, IQR 0.676-1.508).
CONCLUSION
CONCLUSIONS
In first trimester screening for trisomies, the measured value of free ß-hCG should be adjusted for maternal SLE to avoid false positive results and overuse of invasive tests.
Identifiants
pubmed: 30919147
doi: 10.1007/s10067-019-04525-1
pii: 10.1007/s10067-019-04525-1
doi:
Substances chimiques
Chorionic Gonadotropin, beta Subunit, Human
0
Pregnancy-Associated Plasma Protein-A
EC 3.4.24.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1251-1255Subventions
Organisme : Fetal Medicine Foundation
ID : 1037116
Références
Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31:7–15
doi: 10.1002/pd.2637
pubmed: 21210475
Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH (1999) A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-a. Ultrasound Obstet Gynecol 13:231–237
doi: 10.1046/j.1469-0705.1999.13040231.x
pubmed: 10341399
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 31:493–502
doi: 10.1002/uog.5332
pubmed: 18432600
Ferriman EL, Sehmi IK, Jones R, Railton A, Hilton RC, Cuckle HS (2000) False-positive maternal serum screening in systemic lupus erythematosis: a case report. Prenat Diagn 20:851
doi: 10.1002/1097-0223(200010)20:10<851::AID-PD932>3.0.CO;2-L
pubmed: 11038469
Maymon R, Cuckle H, Sehmi IK, Herman A, Sherman D (2001) Maternal serum human chorionic gonadotrophin levels in systemic lupus erythematosus and antiphospholipid syndrome. Prenat Diagn 21:143–145
doi: 10.1002/1097-0223(200102)21:2<143::AID-PD998>3.0.CO;2-B
pubmed: 11241544
Clark F, Dickinson JE, Walters BN et al (1995) Elevated mid-trimester hCG and maternal lupus anticoagulant. Prenat Diagn 15:1035–1039
doi: 10.1002/pd.1970151108
pubmed: 8606882
Heinig J, Steinhard J, Schmitz R, Nofer JR, Kiesel L, Klockenbusch W (2007) Influence of maternal systemic lupus erythematosus on first-trimester combined screening for chromosomal abnormalities. Prenat Diagn 27:600–602
doi: 10.1002/pd.1737
pubmed: 17437322
Kariuki SN, Ghodke-Puranik Y, Dorschner JM, Chrabot BS, Kelly JA, Tsao BP, Kimberly RP, Alarcón-Riquelme ME, Jacob CO, Criswell LA, Sivils KL, Langefeld CD, Harley JB, Skol AD, Niewold TB (2015) Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. Genes Immun 16:15–23
doi: 10.1038/gene.2014.57
pubmed: 25338677
Oomatia A, Fang H, Petri M, Birnbaum J (2014) Peripheral neuropathies in systemic lupus erythematosus: clinical features, disease associations, and immunologic characteristics evaluated over a twenty-five-year study period. Arthritis Rheum 66:1000–1009
doi: 10.1002/art.38302
Lateef A, Petri M (2012) Hormone replacement and contraceptive therapy in autoimmune diseases. J Autoimmun 38:J170–J176
doi: 10.1016/j.jaut.2011.11.002
pubmed: 22261500
Selmi C, Brunetta E, Raimondo MG, Meroni PL (2012) The X chromosome and the sex ratio of autoimmunity. Autoimmun Rev 11:A531–A537
doi: 10.1016/j.autrev.2011.11.024
pubmed: 22155196
Quintero OL, Amador-Patarroyo MJ, Montoya-Ortiz G, Rojas-Villarraga A, Anaya JM (2012) Autoimmune disease and gender: plausible mechanisms for the female predominance of autoimmunity. J Autoimmun 38:J109–J119
doi: 10.1016/j.jaut.2011.10.003
pubmed: 22079680
Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, Reveille JD, Alarcón GS, Vilá LM, Reid J, Harris B, Li S, Kelly JA, Harley JB (2008) Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum 58:2511–2517
doi: 10.1002/art.23701
pubmed: 18668569
pmcid: 2824898
S D, Aggarwal R, Harding JW et al (2011) Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus. Acta Paediatr 100:819–823
doi: 10.1111/j.1651-2227.2011.02185.x
Bianchi I, Lleo A, Gershwin ME, Invernizzi P (2012) The X chromosome and immune associated genes. J Autoimmun 38:J187–J192
doi: 10.1016/j.jaut.2011.11.012
pubmed: 22178198
Friedman EA, Rutherford JW (1956) Pregnancy and lupus erythematosus. Obstet Gynecol 8:601–610
pubmed: 13370039
Doria A, Tincani A, Lockshin M (2008) Challenges of lupus pregnancies. Rheumatology 47(Suppl3):iii9–ii12
pubmed: 18504287
Khamashta MA (2006) Systemic lupus erythematosus and pregnancy. Clin Rheumatol 20:685–694
Lateef A, Petri M (2012) Management of pregnancy in systemic lupus erythematosus. Nat Rev Rheumatol 8:710–718
doi: 10.1038/nrrheum.2012.133
pubmed: 22907290
Ornoy A, Chen L, Silver RM, Miller RK (2004) Maternal autoimmune diseases and immunologically induced embryonic and fetoplacental damage. Birth Defects Res A Clin Mol Teratol 70:371–381
doi: 10.1002/bdra.20021
pubmed: 15211705
Branch DW (1990) Autoimmunity and pregnancy loss. JAMA 264:1453–1454
doi: 10.1001/jama.1990.03450110099036
pubmed: 2391743
Yan Yuen S, Krizova A, Ouimet JM, Pope JE (2008) Pregnancy outcome in systemic lupus erythematosus (SLE) is improving: results from a case control study and literature review. Open Rheumatol J 2:89–98
doi: 10.2174/1874312900802010089
pubmed: 19156224
pmcid: 2627535
Faussett MB, Branch DW (2000) Autoimmunity and pregnancy loss. Semin Reprod Med 18:379–392
doi: 10.1055/s-2000-13728
pubmed: 11355797
Dhar JP, Essenmacher LM, Ager JW, Sokol RJ (2005) Pregnancy outcomes before and after a diagnosis of systemic lupus erythematosus. Am J Obstet Gynecol 193:1444–1455
doi: 10.1016/j.ajog.2005.02.104
pubmed: 16202739