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First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure.
Ultrasound Obstet Gynecol 2019; 53(6):804-809UO

Abstract

OBJECTIVE

To examine factors affecting the rate of failure to obtain a result from cell-free DNA (cfDNA) testing of maternal blood for fetal trisomies 21, 18 and 13 in singleton and twin pregnancies in the first trimester.

METHODS

This was a prospective study of 23 495 singleton and 928 twin pregnancies undergoing screening for fetal trisomy by targeted cfDNA testing at 10 + 0 to 14 + 1 weeks' gestation. Multivariate logistic regression analysis was used to determine significant predictors of failure to obtain a result after first sampling.

RESULTS

There was no result from cfDNA testing after first sampling in 3.4% (798/23 495) of singletons, 11.3% (91/806) of dichorionic twins and 4.9% (6/122) of monochorionic twins. Multivariate logistic regression analysis demonstrated that the risk of test failure, first, increased with increasing maternal age (odds ratio (OR), 1.02; 95% CI, 1.01-1.04) and weight (OR, 1.05; 95% CI, 1.04-1.05), decreasing gestational age (OR, 0.85; 95% CI, 0.79-0.91), serum pregnancy-associated plasma protein-A (PAPP-A) multiples of the median (MoM) (OR, 0.56; 95% CI, 0.49-0.65) and free β-human chorionic gonadotropin (β-hCG) MoM (OR, 0.67; 95% CI, 0.60-0.74), second, was higher in women of black (OR, 1.72; 95% CI, 1.33-2.20) and South Asian (OR, 1.99; 95% CI, 1.56-2.52) than those of white racial origin, in dichorionic twin than in singleton pregnancy (OR, 1.75; 95% CI, 1.34-2.26) and in pregnancies conceived by in-vitro fertilization than in those conceived naturally (OR, 3.82; 95% CI, 3.19-4.55) and, third, was lower in parous than in nulliparous women (OR, 0.63; 95% CI, 0.55-0.74).

CONCLUSIONS

Maternal age, weight, racial origin and parity, gestational age, dichorionicity, method of conception and serum levels of free β-hCG and PAPP-A are independent predictors of cfDNA test failure. The risk of test failure is higher in dichorionic twin than in singleton pregnancies, mainly because a higher proportion of twins are conceived by in-vitro fertilization and more of the women are nulliparous. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Authors+Show Affiliations

Fetal Medicine Research Institute, King's College Hospital, London, UK. Department of Fetal Medicine, Medway Maritime Hospital, Kent, UK.Fetal Medicine Research Institute, King's College Hospital, London, UK. School of Health Sciences, Universidad Francisco de Vitoria, Pozuelo de Alarcón, Madrid, Spain. Obstetrics and Gynecology Department, Hospital Universitario de Torrejón, Torrejón de Ardoz, Madrid, Spain.Fetal Medicine Research Institute, King's College Hospital, London, UK.Department of Fetal Medicine, Medway Maritime Hospital, Kent, UK. Institute of Medical Sciences, Canterbury Christ Church University, Chatham, UK.Fetal Medicine Research Institute, King's College Hospital, London, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30977206

Citation

Galeva, S, et al. "First-trimester Screening for Trisomies By cfDNA Testing of Maternal Blood in Singleton and Twin Pregnancies: Factors Affecting Test Failure." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 53, no. 6, 2019, pp. 804-809.
Galeva S, Gil MM, Konstantinidou L, et al. First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure. Ultrasound Obstet Gynecol. 2019;53(6):804-809.
Galeva, S., Gil, M. M., Konstantinidou, L., Akolekar, R., & Nicolaides, K. H. (2019). First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 53(6), pp. 804-809. doi:10.1002/uog.20290.
Galeva S, et al. First-trimester Screening for Trisomies By cfDNA Testing of Maternal Blood in Singleton and Twin Pregnancies: Factors Affecting Test Failure. Ultrasound Obstet Gynecol. 2019;53(6):804-809. PubMed PMID: 30977206.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure. AU - Galeva,S, AU - Gil,M M, AU - Konstantinidou,L, AU - Akolekar,R, AU - Nicolaides,K H, PY - 2019/02/26/received PY - 2019/04/05/revised PY - 2019/04/08/accepted PY - 2019/4/13/pubmed PY - 2019/4/13/medline PY - 2019/4/13/entrez KW - cell-free DNA KW - fetal fraction KW - first-trimester screening KW - non-invasive prenatal testing KW - trisomy 13 KW - trisomy 18 KW - trisomy 21 KW - twin pregnancy SP - 804 EP - 809 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 53 IS - 6 N2 - OBJECTIVE: To examine factors affecting the rate of failure to obtain a result from cell-free DNA (cfDNA) testing of maternal blood for fetal trisomies 21, 18 and 13 in singleton and twin pregnancies in the first trimester. METHODS: This was a prospective study of 23 495 singleton and 928 twin pregnancies undergoing screening for fetal trisomy by targeted cfDNA testing at 10 + 0 to 14 + 1 weeks' gestation. Multivariate logistic regression analysis was used to determine significant predictors of failure to obtain a result after first sampling. RESULTS: There was no result from cfDNA testing after first sampling in 3.4% (798/23 495) of singletons, 11.3% (91/806) of dichorionic twins and 4.9% (6/122) of monochorionic twins. Multivariate logistic regression analysis demonstrated that the risk of test failure, first, increased with increasing maternal age (odds ratio (OR), 1.02; 95% CI, 1.01-1.04) and weight (OR, 1.05; 95% CI, 1.04-1.05), decreasing gestational age (OR, 0.85; 95% CI, 0.79-0.91), serum pregnancy-associated plasma protein-A (PAPP-A) multiples of the median (MoM) (OR, 0.56; 95% CI, 0.49-0.65) and free β-human chorionic gonadotropin (β-hCG) MoM (OR, 0.67; 95% CI, 0.60-0.74), second, was higher in women of black (OR, 1.72; 95% CI, 1.33-2.20) and South Asian (OR, 1.99; 95% CI, 1.56-2.52) than those of white racial origin, in dichorionic twin than in singleton pregnancy (OR, 1.75; 95% CI, 1.34-2.26) and in pregnancies conceived by in-vitro fertilization than in those conceived naturally (OR, 3.82; 95% CI, 3.19-4.55) and, third, was lower in parous than in nulliparous women (OR, 0.63; 95% CI, 0.55-0.74). CONCLUSIONS: Maternal age, weight, racial origin and parity, gestational age, dichorionicity, method of conception and serum levels of free β-hCG and PAPP-A are independent predictors of cfDNA test failure. The risk of test failure is higher in dichorionic twin than in singleton pregnancies, mainly because a higher proportion of twins are conceived by in-vitro fertilization and more of the women are nulliparous. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/30977206/First_trimester_screening_for_trisomies_by_cfDNA_testing_of_maternal_blood_in_singleton_and_twin_pregnancies:_factors_affecting_test_failure_ L2 - https://doi.org/10.1002/uog.20290 DB - PRIME DP - Unbound Medicine ER -