Prenatal diagnosis of Down syndrome: A 13-year retrospective study

Vičić, Ana; Hafner, Tomislav; Vlatković, Ivanka Bekavac; Korać, Petra; Habek, Dubravko; Stipoljev, Feodora

doi:10.1016/j.tjog.2017.10.004

Cited by 20 publications

(13 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our results are similar to those published by Xiao et al, where 2.79% of karyotype abnormalities were recorded in pregnant women over the age of 35 [15], as well as the results of the Vičić et al [16] study, where Down syndrome was found in 2.4% of cases. In a recent study in pregnant women with trisomy 21, in 13 cases the indications for AC were advanced patient's age.…”

Section: Discussionsupporting

confidence: 93%

Genetic amniocentesis: indications, outcome and complications retrospective cohort study during 13 years

Grgić¹,

Cerovac²,

Hadzimehmedovic³

et al. 2021

Clin. Exp. Obstet. Gynecol.

View full text Add to dashboard Cite

Background: Amniocentesis (AC) is the most commonly used invasive prenatal test. The aim of this study was to determine which were the most common indications for AC, chromosomal abnormalities in relation to the age of the mother and complications as a result of AC. Methods: This is a retrospective thirteen-year cohort study including pregnant women who underwent AC in the period from 2008 to 2020. Patients were divided into two groups: below and above 35 years of age of mother at the time of AC. Results: During study period 2213 AC were performed, out of which 759 (34.29%) were in mother below, and 1454 (65.70%) above 35 years of age (p < 0.00001). The most common indication for AC in group above 35 years of age was advanced maternal age (93.9%), in group below 35 years of age was familial chromosomal diseases (29.91%). In all indications there is a statistically significant difference between the two age groups of pregnant women, all these indications are more prevalent in the group of pregnant women younger than 35 years (p < 0.00001). The most common chromosomal abnormalities in both groups was Down syndrome from numerical aberrations, and from structural inversion of chromosome 9. Short term complications were spontaneous abortion in 26 (1.17%), missed abortion in 4 (0.18%) and premature rupture of membranes in 4 (0.18%) cases. Conclusion: Advanced maternal age, demonstrated the strongest association with the uptake of AC, trisomy 21 was the most prevalent abnormal finding. Complications of AC are not significant compared to the general population of pregnant women.

show abstract

Section: Discussionsupporting

confidence: 93%

Genetic amniocentesis: indications, outcome and complications retrospective cohort study during 13 years

Grgić¹,

Cerovac²,

Hadzimehmedovic³

et al. 2021

Clin. Exp. Obstet. Gynecol.

View full text Add to dashboard Cite

show abstract

“…The World Health Organization estimates a DS incidence of about 1 in 1,000 to 1 in 1,100 live births. During the last 20 years, there has been an increase of about 10% in the number of pregnancies with DS in Europe, which may be related to the increasing maternal age at conception [1]. It is well established that the risk for having DS affected baby increases with maternal age, with the chance of 1 in 69 for a woman with 40 years old at the time of delivery [2].…”

Section: Introductionmentioning

confidence: 99%

“…It is well established that the risk for having DS affected baby increases with maternal age, with the chance of 1 in 69 for a woman with 40 years old at the time of delivery [2]. Nevertheless, the live birth prevalence remains stable, mainly due to the improvement and widespread availability of prenatal screening [1]. The prenatal screening of DS encompasses non-invasive methods that estimate the risk of having a child with DS, whereas definite diagnosis is made through genetic mapping of fetal cells [1].…”

Section: Introductionmentioning

confidence: 99%

“…Nevertheless, the live birth prevalence remains stable, mainly due to the improvement and widespread availability of prenatal screening [1]. The prenatal screening of DS encompasses non-invasive methods that estimate the risk of having a child with DS, whereas definite diagnosis is made through genetic mapping of fetal cells [1]. The methods used for fetal screening are maternal age assessment, imaging markers in the first- and/or second-trimester ultrasounds, maternal serum biochemical testing, and, more recently, analysis of cell-free fetal DNA from maternal plasma [1].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Neuroimaging assessment in Down syndrome: a pictorial review

et al. 2019

View full text Add to dashboard Cite

Down syndrome (DS), or trisomy 21, is the leading genetic cause of intellectual incapacity worldwide, with a reported incidence of about 1 in 1,000 to 1 in 1,100 live births. Besides the several commonly known physical features characteristic of this syndrome present at birth, DS may additionally affect every organ system. In addition, despite the large number of published papers concerning this syndrome, there is scarce literature focusing specifically in the typical neuroimaging features associated with this condition. The aim of this paper is to review and systematize the distinctive characteristics and abnormalities of the central nervous system, head and neck, and spine present in DS patients that should actively be searched for and evaluated by radiologists and/or neuroradiologists.

show abstract

“…En un análisis reciente, se encontró que esta prueba tiene una tasa de detección para la trisomía 21 del 99 % con una tasa de falsos positivos del 0,1 % . Sin embargo, la prueba de ADN de células fetales libres es costosa por lo que aún no puede ser considerada como parte del tamizaje rutinario de aneuploidías (Vičić et al, 2017).…”

Section: I S C U S I ó Nunclassified

FIRST KARYOTYPE REPORT ON Colocasia oresbia: A COMPARATIVE CYTOGENETIC STUDY BETWEEN TWO VARIETIES

Kazi

Chandan

Syeda

2020

BAG

View full text Add to dashboard Cite

Karyotypes of two Colocasia oresbia botanical varieties from Bangladesh were analyzed and compared with orcein, chromomycin A3 (CMA) and 4´-6 diamidino-2-phenylindole (DAPI). Both varieties had 2n=2x=26 chromosomes (karyotypic formula: 20m+6sm) and a pair of satellites each. Total chromosome length was 144.18±2.45 μm in C. oresbia var. oresbia and 133.02±2.75 μm in C. oresbia var. stolonifera. The karyotype of Colocasia oresbia var. oresbia is 2A whereas that of C. oresbia var. stolonifera is 1A. Six CMA and four DAPI bands were observed in C. oresbia var. oresbia and eight CMA and six DAPI bands in C. oresbia var. stolonifera. However, in these two morphologically distinct C. oresbia varieties of two different ecological zones, the same somatic chromosome number, diversification in various karyotypic parameters and CMA/DAPI-banding patterns were observed. In addition to taxonomic characters, the studied karyotype features will contribute to the characterization of these two C. oresbia varieties and to establish a base for future research. Key words: chromosome banding; CMA; DAPI; Karyotype.

show abstract

Prenatal diagnosis of Down syndrome: A 13-year retrospective study

Cited by 20 publications

References 15 publications

Genetic amniocentesis: indications, outcome and complications retrospective cohort study during 13 years

Genetic amniocentesis: indications, outcome and complications retrospective cohort study during 13 years

Neuroimaging assessment in Down syndrome: a pictorial review

FIRST KARYOTYPE REPORT ON Colocasia oresbia: A COMPARATIVE CYTOGENETIC STUDY BETWEEN TWO VARIETIES

Contact Info

Product

Resources

About