Single umbilical artery and reproduction losses in Slovak population: relation to karyotype and fetal anomalies

Malová, J.; Böhmer, Daniel; Luha, Ján; Pastorakova, A; Čierna, Zuzana; Braxatorisová, T

doi:10.4149/bll_2018_062

Cited by 5 publications

(7 citation statements)

References 23 publications

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“…Its occurrence has been correlated with several maternal factors such as the Caucasian race, older age, multiparity, thalidomide medication or vitamin A overdose during pregnancy, smoking, maternal pregestational diabetes, chronic hypertension, epileptic disease, previous cesarean delivery, and conception using assisted reproductive technologies (12,20,21). Moreover, SUA has been found to occur 3-4 times more frequently among twins than among singletons (12,22). Controversial results regarding sex predominance among individuals with SUA have also been reported.…”

Section: Discussionmentioning

confidence: 99%

“…The risk of chromosomal abnormalities can increase from approximately 4% for those with single congenital anomaly to 50% for those with multiple congenital anomalies (24). The most common chromosomal abnormalities were trisomy 18, trisomy 13, and triploidy, which together, accounted for 82.9% of all cases (22,24). The other abnormalities were trisomy 21 and 16 and monosomy X (20,22).…”

Section: Discussionmentioning

confidence: 99%

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Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study

Lee,

Choi

2024

IJRM

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Background: A single umbilical artery (SUA) may coexist with a single anomaly or multiple congenital anomalies. Although anomalies associated with SUA can primarily cause high perinatal mortality, their clinical significance has not been evaluated. Objective: We investigated the relationship between the clinical features and the type or number of concurrent anomalies in neonates with SUA. Materials and Methods: In this cross-sectional study, 104 neonates with SUA were enrolled from January 2000- to December 2020 at Dongsan hospital, Daegu, South Korea. Data on the maternal history and the neonates demographic characteristics, clinical course, chromosomal analysis, and congenital anomalies, were collected. Results: Among the neonates with SUA included, 77 (74.0%) had one or more congenital anomalies; 66 (63.5%) were cardiac, 20 (19.2%) were genitourinary, 12 (11.5%) were gastrointestinal, 5 (4.8%) were central nervous system, 12 (11.5%) were skeletal, and 5 (4.8%) were facial anomalies. The number of concurrent anomalies ranged from 0–4. Neonates with SUA and concurrent gastrointestinal anomaly had a high incidence of initial positive ventilation, intubation, and inotropic drug use and lower Apgar score at 1 min and 5 min. 7 (6.7%) neonates with SUA died. Low birth weight (odds ratio = 6.16, p = 0.05), maternal multiparity (2.41, p = 0.13), gastrointestinal anomaly (5.06, p = 0.11), and initial cardiac resuscitation (7.77, p = 0.11) were risk factors for mortality in neonates with SUA. Conclusion: Neonates with SUA and concurrent gastrointestinal anomaly, low birth weight, maternal multiparity, and initial cardiac resuscitation had poor outcomes. Key words: Single umbilical artery, Congenital abnormalities, Perinatal mortality.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study

Lee,

Choi

2024

IJRM

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“…According to the results of various studies and the experience from our institute, the success rate of culture of cells from dead fetuses in the higher weeks of gestation is around 30%-50%. The advantage of DNA analyses is that they can be used to analyze nonviable tissue (American College of Obstetricians and Gynecologists, n.d.; Malova et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Post‐mortem rapid aneuploidy testing for holoprosencephaly

Gergely,

Repiská,

Böhmer

et al. 2024

Birth Defects Research

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BackgroundAbortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post‐mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF‐PCR) technique.MethodsTesting for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF‐PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.ResultsQF‐PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF‐PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).ConclusionsRapid aneuploidy testing using the QF‐PCR technique is a simple, reliable, time‐ and cost‐effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post‐mortem.

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“…[3] The presence of SUA has been accepted as a soft marker for fetal congenital structural and chromosomal abnormalities. [1,[4][5][6] Although there are many case reports or small case series in the literature, most large-scale studies date back at least 7 years, and many are at least 10 years old. Indeed, two metanalyses comprising seven studies (three cohort and four case-control studies) and 11 studies (nine cohort and two case-control studies), respectively, were able to identify its relation with congenital structural and chromosomal abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Prenatal and neonatal outcomes of pregnancies diagnosed with fetal single umbilical artery

Obut¹,

Oncu²,

Çelik³

et al. 2021

Perinatal J

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Objective To investigate the associated anomalies and outcomes of fetuses diagnosed as having a single umbilical artery (SUA) which were reported inconsistently in previous studies. Methods The data of 82 pregnancies with fetal SUA, 35 of which were complex, and 47 isolated SUA (iSUA) and 100 pregnancies with fetal double umbilical arteries (DUA) between June 2018 and July 2020 were retrieved. We compared the maternal characteristics, and pregnancy and fetal outcomes of the three groups (iSUA, SUA, and DUA). Results Of 82 fetuses with SUA, 35 had 64 major structural abnormalities. 20 of these 35 fetuses (57.1%) had cardiovascular malformations, 12 (34.2%) had central nervous, 10 (28.5%) had genitourinary, and eight (22.8%) had gastrointestinal system malformations. Isolated SUA was present in SUA. Compared with the 100 DUA fetuses, SUA was a risk for intrauterine growth restriction (IUGR), preterm delivery, Apgar scores of <7, and admission to the neonatal intensive care unit. Having fetal chromosomal or structural abnormalities, was a risk for amnion fluid abnormality, pregnancy termination, intrauterine fetal death, early neonatal death, and a low live birth ratio in SUA cases. Conclusion SUA has an increased rate of fetal structural and chromosomal abnormalities. Among them, the most detected one is cardiac and the second most common one is central nervous system malformations. Pregnancies with fetal SUA have increased risk for IUGR, preterm delivery, low Apgar scores, and admission to the neonatal intensive care unit. The presence of additional structural or chromosomal malformations increases the rate of these adverse pregnancy risks. Thus, these cases warrant dedicated fetal ultrasonographic organ screening and close prenatal follow-up.

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Single umbilical artery and reproduction losses in Slovak population: relation to karyotype and fetal anomalies

Cited by 5 publications

References 23 publications

Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study

Analysis of single umbilical artery with concurrent congenital anomaly: Is it a risk factor for poor prognosis? A cross-sectional study

Post‐mortem rapid aneuploidy testing for holoprosencephaly

Prenatal and neonatal outcomes of pregnancies diagnosed with fetal single umbilical artery

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