Screening for chromosomal defects

Nicolaides, Kypros H.

doi:10.1002/uog.128

Cited by 214 publications

(194 citation statements)

References 55 publications

(78 reference statements)

Supporting

Mentioning

152

Contrasting

Unclassified

Order By: Relevance

“…In literature, the more advanced the maternal age, the higher the prevalence of Down syndrome [17]; and 58% of babies with Down's syndrome were born to women aged year 35 or more [18]. Nicolaides et al [1,19] found that when the maternal age was 35 years or more, the detection rate of trisomy 21 was 71.4% for 1.1% false positive rate. However, we didn't find out a significant correlation with trisomy 21 and the advanced of maternal age (OR = 2.45, p = 0.124) because our study was a low-risk study population (the means of maternal age was 28.9 ± 4.5 years); so it was not eligible to use the maternal age to evaluate the possibility of trisomy 21 in young obstetrical population.…”

Section: Discussionmentioning

confidence: 99%

“…However, we didn't find out a significant correlation with trisomy 21 and the advanced of maternal age (OR = 2.45, p = 0.124) because our study was a low-risk study population (the means of maternal age was 28.9 ± 4.5 years); so it was not eligible to use the maternal age to evaluate the possibility of trisomy 21 in young obstetrical population. Furthermore, according to Nicolaides et al [1,19] maternal age screening had also a low detection rate (30%) for prediction of trisomy 21 and it also showed no advantage for using maternal age alone in comparison into the combined of fetal NT thickness and biochemical serum [13]. Similarly, Niemimaa et al [20] believed that trisomy screening by using of maternal age alone has a low detection rate and a high false positive rate.…”

Section: Discussionmentioning

confidence: 99%

“…Choice a fetal NT cut-off point to define an increased fetal NT thickness is very important in the prenatal care program because when NT levels increase, the chance that healthy baby will be decrease [19,21,22]. Many studies reported: the threshold of fixed 2.5mm cut-off point and 95th percentile depending cut-off were used effectively as an increased fetal NT thickness for screening trisomy 21 with the varied detection rate from 75% to 91% and the varied false positive rate from 1% to 5.4% [6,14,16,17,23,24].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

View full text Add to dashboard Cite

Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

View full text Add to dashboard Cite

show abstract

“…l " Table 2 offers an overview of the test quality of prenatal screening tests for trisomy 21. Triple test in the 2nd trimester [37] (AFP, beta-hCG, estriol) about 60% 5% Quadruple test in the 2nd trimester [37] (AFP, beta-hCG, estriol und inhibin-A) about 70% 5% Integrated screening [37] (foetal NT and PAPP-A in the 12+ week of gestation and quadruple test in the 2nd trimester) about 85% 5% Sonographic soft marker screening in the 2nd trimester [27] about 75% 13%…”

Section: Studymentioning

confidence: 99%

“…The use of foetal DNA assessment after multiple marker screening (done as part of the detailed anomaly scan) in the 21st week of gestation is also conceivable. If a constellation of markers is found which appear to be typical for trisomy 21, use of foetal DNA assessment with the likelihood ratios referred to above could provide results which would clearly show whether the risk was reduced and so prevent the patient from undergoing invasive tests [27]. But here again, it must be emphasised that risk assessment for trisomy 21 based on multiple marker screening in the 20+ week of gestation has become much less important since FTS has come into more general use.…”

Section: Studymentioning

confidence: 99%

Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists

Kagan

Hoopmann

Kozlowski³

2012

Geburtsh Frauenheilk

View full text Add to dashboard Cite

Introduction !In the last few years, first trimester screening (FTS) in 11+ to 13+ weeks of gestation (12th to 14th weeks of gestation) has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications [1]. While, initially, the main focus was to determine the personal risk for trisomies 21, 18 and 13, today around half of all severe foetal defects can be recognised at the time of FTS. In addition, the risks for pre-eclampsia, growth retardation and pre-term birth can be determined. Various interventions and therapies are now available to treat many of these problems in patients considered at particular risk [2,38]. The use of foetal DNA obtained from maternal blood and massively parallel sequencing has made it possible to detect foetal trisomy 21 with a high degree of probability already in the first trimester of pregnancy [3]. At a casual glance it would appear that use of foetal DNA to assess the risk for trisomy 21 now competes with FTS. But on more careful examination of these tests it becomes clear that assessment of foetal DNA has the potential to become an important tool for prenatal medicine specialists in future. This review offers an assessment of foetal DNA analysis in the context of current prenatal medical questions and demonstrates the practical uses of this approach. Assessment of Free Foetal DNA from Maternal Blood !The detection of foetal DNA in maternal blood or, to be more precise, in cell-free maternal plasma goes back to a study by Lo et al. published in 1997 [4]. Pregnancy-specific cell-free DNA in maternal blood or plasma constitutes around 10 % of all cell-free DNA, is largely fragmented and is not Abstract ! Over the last few years, first trimester screening between 11+ and 13+ weeks of gestation has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications including pre-eclampsia or pre-term birth. Screening for trisomies 21/18 and 13 using maternal and gestational age, foetal nuchal translucency, and maternal serum biochemistry was formerly the main reason for first trimester screening. However, today this is only one part of the overall examination. In the near future, the analysis of foetal DNA obtained from maternal blood will be used to supplement first trimester screening for aneuploidy or even replace current screening methods. In this review we show how prenatal medicine specialists can use foetal DNA analysis. Zusammenfassung !Das Ersttrimesterscreening in der 11 + bis 13 + SSW hat sich in den vergangenen Jahren zu einer der zentralen Ultraschalluntersuchungen in der Schwangerschaft entwickelt, welche die Prädik-tion zahlreicher Probleme in der Schwangerschaft, wie Präeklampsie oder Frühgeburtlichkeit, erlaubt. Die eigentliche Risikoberechnung für Trisomie 21/18 und 13, basierend auf dem mütter-lichen Altersrisiko, der fetalen Nackentransparenz und der maternalen Serumbiochemie, stellt dabei nur einen der Schwerpunkte dar,...

show abstract

Prenatal Diagnosis of Fetal Malformations by Ultrasound

Ville

Bault

2015

Genetic Disorders and the Fetus

View full text Add to dashboard Cite

Screening for chromosomal defects

Cited by 214 publications

References 55 publications

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Assessment of Foetal DNA in Maternal Blood – A Useful Tool in the Hands of Prenatal Specialists

Prenatal Diagnosis of Fetal Malformations by Ultrasound

Contact Info

Product

Resources

About