Prevalence of common aneuploidy in twin pregnancies.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
07
08
2021
accepted:
26
11
2021
revised:
19
11
2021
pubmed:
3
1
2022
medline:
27
4
2022
entrez:
2
1
2022
Statut:
ppublish
Résumé
The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.
Identifiants
pubmed: 34974528
doi: 10.1038/s10038-021-01001-0
pii: 10.1038/s10038-021-01001-0
pmc: PMC9035385
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
261-265Informations de copyright
© 2021. The Author(s).
Références
Leila P, Sedigheh A, Shahrzad J, Ahmadreza Z, Mohammad SSA. Obstetrics and perinatal outcomes of dichorionic twin pregnancy following ART compared with spontaneous pregnancy. Int J Reprod Biomed. 2016;14:317–22.
Tang Y, Ma CX, Cui W, Chang V, Ariet M, Morse SB, et al. The risk of birth defects in multiple births: a population-based study. Matern Child Health J. 2006;10:75–81.
doi: 10.1007/s10995-005-0031-5
Zhang XH, Qiu LQ, Huang JP. Risk of birth defects increased in multiple births. Birth Defects Res A Clin Mol Teratol. 2011;91:34–8.
doi: 10.1002/bdra.20725
Glinianaia SV, Rankin J, Wright C. Congenital anomalies in twins: a register-based study. Hum Reprod. 2008;23:1306–11.
doi: 10.1093/humrep/den104
Toufaily MH, Westgate MN, Lin AE, Holmes LB. Causes of congenital malformations. Birth Defects Res. 2018;110:87–91.
doi: 10.1002/bdr2.1105
Teresa NS, Mary EN, Monica F, Sara G, Robert JC. Observed rate of Down syndrome in twin pregnancies. Obstet Gynecol. 2016;128:1127–33.
doi: 10.1097/AOG.0000000000001690
Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. J Med Screen. 2002;9:2–6.
doi: 10.1136/jms.9.1.2
Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20:521–6.
doi: 10.1038/ejhg.2011.246
Nishiyama M, Yan J, Yotsumoto J, Sawai H, Sekizawa A, Sago H, et al. Chromosome abnormalities diagnosed in utero: a Japanese study of 28983 amniotic fluid specimens collected before 22 weeks gestations. J Hum Genet. 2015;60:133–7.
doi: 10.1038/jhg.2014.116
Hall JG. Twinning. Lancet 2003;362:735–43.
doi: 10.1016/S0140-6736(03)14237-7
John FR, James FXE, Alicia C, Leslie C, Robert MG, William ES. Calculated risk of chromosomal abnormalities in twin gestations. Obstet Gynecol. 1990;76:1037–41.
Benirschke K, Kim CK. Multiple pregnancy. N. Engl J Med. 1973;288:1329–36.
doi: 10.1056/NEJM197306212882505
Landy HJ, Weiner S, Corson SL, Batzer FR, Bolobnese RJ. The “vanishing twin”: Ultrasonographic assessment of fetal disappearance in the first trimester. Am J Obst Gynecol. 1986;155:14–9.
doi: 10.1016/0002-9378(86)90068-2
Levi S. Ultrasonic assessment of the high rate of human multiple pregnancy in the first trimester. J Clin Ultrasound. 1976;4:3–5.
doi: 10.1002/jcu.1870040104
Varma TR. Ultrasound evidence of early pregnancy failure in patients with multiple conceptions. Br J Obstet Gynaecol. 1979;86:290–2.
doi: 10.1111/j.1471-0528.1979.tb11258.x
Boklage CE. Survival probability of human conceptions from fertilization to term. Int J Fertil. 1990;35:75–94.
pubmed: 1970983
Livingston JE, Poland BJ. A study of spontaneously aborted twins. Teratology 1980;21:139–48.
doi: 10.1002/tera.1420210202
Uchida IA, Freeman VCP, Gedeon M, Goldmaker J. Twinning rate in spontaneous abortions. Am J Hum Genet. 1983;35:987–93.
pubmed: 6614011
pmcid: 1685817
D’Antnio F, Khalil A, Dias T, Thilaganayhan B. Early fetal loss in monochorionic and dichorionic twin pregnancies: analysis of the Southwest Thames Obstetric Research Collaborative (STORK) multiple pregnancy cohort. Ultrasound Obstet Gynecol. 2013;41:632–6.
doi: 10.1002/uog.12363
McPherson JA, Odibo AO, Shanks AL, Roehl KA, Macones GA, Cahill AG. Impact of chorionicity on risk and timing of intrauterine fetal demise in twin pregnancies. Am J Obstet Gynecol. 2012;207:190.e1–6.
doi: 10.1016/j.ajog.2012.07.031
Boyle B, Morris JK, McConkey R, Garne E, Loane M, Dolk H, et al. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. Br J Obstet Gynaecol. 2014;121:809–19.
doi: 10.1111/1471-0528.12574