High rates of "atypical" single nucleotide polymorphism-based noninvasive prenatal screening results among consanguineous Arab American patients: A single center retrospective study.
Arab Americans
consanguinity
genetic counseling
genetic testing
noninvasive prenatal testing
screening
Journal
Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
revised:
16
03
2023
received:
06
11
2022
accepted:
28
03
2023
medline:
6
10
2023
pubmed:
18
4
2023
entrez:
17
4
2023
Statut:
ppublish
Résumé
Noninvasive prenatal screening (NIPS), using placental cell-free DNA from a maternal blood sample, is currently the most sensitive and specific screening tool for detecting common fetal aneuploidies. The aim of this study was to compare the rates of "atypical" single nucleotide polymorphism (SNP)-based NIPS results and subsequent pregnancy outcomes between Arab American and non-Arab American patients. We conducted a retrospective cohort study of pregnant Arab and non-Arab American patients who had SNP-based NIPS performed between September 2018 and January 2021 at an urban health system in Michigan. The rate of "atypical" results and other perinatal outcomes were compared between groups using descriptive statistics. "Atypical" results due to multifetal gestations, either undisclosed or unknown at time of ordering, were excluded. Five thousand eight hundred and seventy-three patients underwent SNP-based NIPS: 771 (13.1%) were identified as Arab American, 5102 (86.9%) were non-Arab American, and 49 (0.8%) patients received "atypical" results. Arab patients represented only 13.1% of patients screened (771/5873) but had a significantly higher rate of "atypical" results than non-Arab American patients (17/771 [2.2%] vs. 32/5102 [0.6%]; p < 0.001). Of the 17 Arab patients with "atypical" results, 9 (52.9%) were in known consanguineous relationships. No major congenital anomalies or chromosomal aberrations were identified for any patients who had "atypical" results, and no significant differences in other perinatal outcomes were observed between Arab and non-Arab American patients. A better understanding of the association between consanguinity and "atypical" SNP-based NIPS results would aid in appropriate test selection and interpretation and may help physicians and genetic counselors provide better perinatal counseling and follow-up care for patients in consanguineous relationships.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1040-1046Informations de copyright
© 2023 National Society of Genetic Counselors.
Références
Aboualsoltani, F., Rahmani, S. A., Pourbarghi, M., Dolatkhah, H., & Aghazadeh, A. M. (2009). The frequency of consanguineous marriages and their effects on offsprings in Tabriz city. Egyptian Journal of Medical Human Genetics, 10(2), 198-207.
Akrami, S. M., Montazeri, V., Shomali, S. R., Heshmat, R., & Larijani, B. (2009). Is there a significant trend in prevalence of consanguineous marriage in Tehran? A review of three generations. Journal of Genetic Counseling, 18(1), 82-86.
American College of Obstetricians and Gynecologists' Committee on Practice Bulletins-Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. (2020). Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstetrics and Gynecology, 136(4), e48-e69.
Badeau, M., Lindsay, C., Blais, J., Nshimyumukiza, L., Takwoingi, Y., Langlois, S., Légaré, F., Giguère, Y., Turgeon, A. F., Witteman, W., & Rousseau, F. (2017). Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database of Systematic Reviews, 11(11), CD011767.
Bittles, A. (2001). Consanguinity and its relevance to clinical genetics. Clinical Genetics, 60, 89-98.
Bittles, A. H. (2008). A community genetics perspective on consanguineous marriage. Community Genetics, 11, 324-330.
Bittles, A. H., & Black, M. L. (2010). The impact of consanguinity on neonatal and infant health. Early Human Development, 86(11), 737-741.
Bittles, A. H., Mason, W. M., Greene, J., & Rao, N. A. (1991). Reproductive behavior and health in consanguineous marriages. Science, 252, 789-794.
Dar, P., Shani, H., & Evans, M. I. (2016). Cell-free DNA: Comparison of technologies. Clinics in Laboratory Medicine, 36(2), 199-211.
De Costa, C. M. (2002). Consanguineous marriage and its relevance to obstetric practice. Obstetrical and Gynecological Survey, 57, 530-536.
De la Cruz, P., & Brittingham, A. (2011). Arab American Institute, Web http://www.aaiusa.org/demographics. U.S. Census Bureau. 2011 American Community Survey 1-Year Estimates.
Lauderdale, D. (2006). Birth outcomes for Arabic-named women in California before and after September 11. Demography, 43(1), 185-201.
Mumtaz, G., Tamim, H., Kanaan, M., Khawaja, M., Khogali, M., Wakim, G., Yunis, K. A., & for the National Collaborative Perinatal Neonatal Network. (2007). Effect of consanguinity on birth weight for gestational age in a developing country. American Journal of Epidemiology, 165, 742-752.
Natera Internal Data. (2023). www.panoramatest.com
Nicolaides, K. H., Syngelaki, A., del Mar, G. M., Quezada, M. S., & Zinevich, Y. (2014). Prenatal detection of fetal triploidy from cell- free DNA testing in maternal blood. Fetal Diagnosis and Therapy, 35, 212-217.
Obeidat, B. G., Khader, Y. S., Amarin, Z. O., Kassawneh, M., & AlOmari, M. (2010). Consanguinity and adverse pregnancy outcomes: The north of Jordan experience. Maternal and Child Health Journal, 14(2), 283-289.
Oniya, O., Neves, K., Ahmed, B., & Konje, J. C. (2019). A review of the reproductive consequences of consanguinity. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 232, 87-96.
Posch, A., Springer, S., Langer, M., Blaicher, W., Streubel, B., & Schmid, M. (2012). Prenatal genetic counseling and consanguinity. Prenatal Diagnosis, 32(12), 1133-1138.
Richards, E. G., Sangi-Haghpeykar, H., AL, M. G., Van den Veyver, I. B., & Fruhman, G. (2015). Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: Ultrasound versus advanced genetic testing. Prenatal Diagnosis, 35(12), 1213-1217.
Schwartz, K. L., Kulwicki, A., Weiss, L. K., Fakhouri, H., Sakr, W., Kau, G., & Severson, R. K. (2004). Cancer among Arab Americans in the metropolitan Detroit area. Ethnicity & Disease, 14, 141-146.
Sezik, M., Ozkaya, O., Sezik, H. T., Yapar, E. G., & Kaya, H. (2006). Does marriage between first cousins have any predictive value for maternal and perinatal outcomes in pre-eclampsia? Journal of Obstetrics and Gynaecology Research, 32, 475-481.
Shawky, R. M., El-Awady, M. Y., Elsayed, S. M., & Hamadan, G. E. (2011). Consanguineous matings among Egyptian population. Egyptian Journal of Medical Human Genetics, 12(2), 157-163.
Tadmouri, G. O., Nair, P., Obeid, T., Al Ali, M. T., Al Khaja, N., & Hamamy, H. A. (2009). Consanguinity and reproductive health among Arabs. Reproductive Health, 6, 17.
Tayebi, N., Yazdani, K., & Naghshin, N. (2010). The prevalence of congenital malformations and its correlation with consanguineous marriages. Oman Medical Journal, 25(1), 37-40.