Maternal age‐ and gestation‐specific risk for trisomy 21

Snijders, R. J. M.; Sundberg, Karin; Holzgreve, Wolfgang; Henry, George P.; Nicolaides, Kypros H.

doi:10.1046/j.1469-0705.1999.13030167.x

Cited by 308 publications

(238 citation statements)

References 8 publications

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“…In studies comparing prevalence, the mortality rate for T21 ranges between 12 and 24% from AM-NIO to birth and 30-54% from CVS to birth. 31,[60][61][62][63][64][65] In this study, there was no difference in the mortality rate among T21 cases diagnosed after the CVS or after AMNIO, given that 36% (4 of 11) cases diagnosed after CVS and 36% (9 of 25) cases diagnosed after AMNIO evolved to FD.…”

Section: Discussionmentioning

confidence: 47%

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

Goulart

Liao

Carvalho

et al. 2016

Rev. Assoc. Med. Bras.

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Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD). Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31) was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major malformations were present in 45 (49%); with hydrops in 32 (35%) fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17%) and T13/18 (n=2/25, 8%), p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92). Of these, 60% (33/55) showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21) and 29% (45X), p= 0.01]. FD occurred in 55 (60%) gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36%) and T13/18 (n=16/25, 64%), p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001). In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; p=0.005). No predictive factors were identified in the T13/18 group. Intra-uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.

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Section: Discussionmentioning

confidence: 47%

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

Goulart

Liao

Carvalho

et al. 2016

Rev. Assoc. Med. Bras.

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“…12 Finally, when neither were available (women declining screening), the risk was calculated based on maternal age alone for the purposes of this study. 13 Following referral, fetuses underwent complete ultrasound evaluation of fetal anatomy in addition to fetal echocardiography. Invasive testing was offered to all women, and the results were recorded.…”

Section: Methodsmentioning

confidence: 99%

The association between prenatal atrioventricular septal defects and chromosomal abnormalities

Morlando¹,

Bhide

Familiari

et al. 2017

European Journal of Obstetrics & Gynecology and Reproductiv

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Word count -Abstract: 283; Main text: 2552. CondensationThe rate of trisomy 21 among fetuses with an AVSD in the second trimester is high even in those that undergo first trimester combined screening. Short version of titleAVSD and trisomy 21. Results:A total 110 fetuses with a diagnosis of atrioventricular septal defect were identified. Among the 98 fetuses with normal situs, the prevalence of trisomy 21 was 46% (95%CI: 36-56%). Using a 1:150 threshold, the rate of trisomy 21 within the low-risk group was 41% (95%CI: 27-57%) while in the high-risk group it was 70% (95% CI: 52-83%), significantly higher than in the low risk group (p= 0.028). Similar results were obtained when the 1:250 threshold was applied (66% versus 41%, p= 0.055). Conclusions:The rate of trisomy 21 among fetuses identified with an atrioventricular septal defect in the second trimester is high even in those that undergo first trimester combined screening. Some fetuses with a high-risk screening result show a normal karyotype. Therefore, an offer of an invasive 4 procedure to check fetal karyotyping is indicated. Knowledge of these rates may be helpful for parents in the decision making process.

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“…(Hecht and Hook, 1994;Halliday et al, 1995;Snijders et al, 1994Snijders et al, , 1995Snijders et al, , 1999Morris et al, 1999). In contrast, the rate of fetal death in euploid fetuses is only 1 to 2% and consequently the risk for trisomies decreases with gestation.…”

Section: Screening By Maternal Agementioning

confidence: 99%

Aneuploidy and Anomaly Screening

Elkady¹,

Dawlatly²,

Ahmed³

et al. 2017

Mastering Single Best Answer Questions for the Part 2 MRCOG Examination

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Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

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Maternal age‐ and gestation‐specific risk for trisomy 21

Abstract: The risk for trisomy 21 increases with maternal age and decreases with gestation. The prevalence of trisomy 21 at 12 and 16 weeks of gestation is higher than the prevalence at 40 weeks by 30% and 21%, respectively.

Cited by 308 publications

References 8 publications

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

The association between prenatal atrioventricular septal defects and chromosomal abnormalities

Aneuploidy and Anomaly Screening

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