First Trimester Ultrasound Assessment for Fetal Aneuploidy

Hyett, Jonathan; Mogra, Ritu; Sonek, Jiri

doi:10.1097/grf.0000000000000013

Cited by 9 publications

(6 citation statements)

References 89 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This cut-off time was chosen because in Australia combined first trimester screening is carried out between 9 weeks and 13 weeks (plus 6 days). This cut-off point enabled us to recruit women slightly later on in gestation to widen the recruitment window [46]. Women who expressed an interest were contacted by researchers (AC & TY) to determine eligibility, obtain verbal consent, and measure knowledge prior to receiving the DA.…”

Section: Methodsmentioning

confidence: 99%

Improving women’s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

Smith

Cai

Wong

et al. 2018

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

BackgroundAccess to information about prenatal screening is important particularly in light of new techniques such as non-invasive prenatal testing (NIPT). This study aimed to develop and examine the acceptability of a low literacy decision aid (DA) about Down syndrome screening among pregnant women with varying education levels and GPs.MethodsWe developed a DA booklet providing information about first-trimester combined testing, maternal serum screening, and NIPT. GPs and women participated in a telephone interview to examine the acceptability of the DA and measure screening knowledge before and after reading the DA. The knowledge measure was designed to assess whether women had understood the gist of the information presented in the decision aid. It comprised conceptual questions (e.g. screening tells you the chance of having a baby with Down syndrome) and numeric questions (e.g. the accuracy of different screening tests).ResultsTwenty-nine women and 18 GPs participated. Regardless of education level, most women found the booklet ‘very’ clearly presented (n = 22, 76%), and ‘very’ informative (n = 23, 80%). Overall, women’s conceptual and numeric knowledge improved after exposure to the DA, from 4% having adequate knowledge to 69%. Women’s knowledge of NIPT also improved after receiving the decision aid, irrespective of education. Most GPs found it ‘very’ clearly presented (n = 13, 72%), and that it would ‘very much’ facilitate decision-making (n = 16, 89%).ConclusionsThe DA was found to be acceptable to women as well as GPs. A comprehensive evaluation of the efficacy of the decision aid compared to standard information is an important next step. Strategies are needed on how to implement the tool in practice.Electronic supplementary materialThe online version of this article (10.1186/s12884-018-2135-0) contains supplementary material, which is available to authorized users.

show abstract

Section: Methodsmentioning

confidence: 99%

Improving women’s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

Smith

Cai

Wong

et al. 2018

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

show abstract

“…Obstetric ultrasound has become a standard component of antenatal care. First‐trimester assessment of the risk of chromosomal abnormalities based on nuchal translucency (NT) measurement is routinely performed between 11 and 13 weeks of gestation, combined with serum markers . Although it is possible to diagnose a wide range of fetal anomalies at the NT scan at an experienced sonographer's hand, second trimester anatomic scan is still the standard investigation for the detection of fetal structural anomalies and growth.…”

Section: Introductionmentioning

confidence: 99%

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

Han

Yang

et al. 2020

Prenatal Diagnosis

View full text Add to dashboard Cite

Objective: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.Method: Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.Results: Definitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X-linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks.Conclusion: Medical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases.

show abstract

“…In particular, whether "I-shaped" sign in the three vessel view which raises suspicion of cardiac anomaly, especially d-transposition of the great arteries, can be found in the first trimester as in the mid-trimester [21]. After the implementation of universal first trimester combined screening for Down syndrome, there is an increasing demand for earlier echocardiogram with more frequent detection of a thick nuchal translucency, tricuspid regurgitation or an abnormal ductus venosus flow pattern [4] [22]- [25].…”

Section: Discussionmentioning

confidence: 99%

“…In the era of non-invasive prenatal testing (NIPT), all pregnant women should still be offered an ultrasound examination in the first trimester [1] with the benefits of early detection and exclusion of many major anomalies [2]- [4], some of which are either lethal or associated with severe handicap that may warrant the discussion of an earlier and safer termination of pregnancy with the pregnant women [5] [6]. Combining transvaginal approach with transabdominal sonography had increased the successful visualization rate of fetal anatomy from 72% to 86% [7].…”

Section: Introductionmentioning

confidence: 99%

The Use of a High Frequency Linear Transducer in the Assessment of Fetal Anatomy at the Routine 11 to 13 + 6-Week Scan among Chinese Population

Mak¹,

Kou²,

Poon³

et al. 2015

OJOG

View full text Add to dashboard Cite

Objectives: To determine if the use of high frequency linear transducer (HFLT) in addition to conventional curvilinear transducer (CCT) aids assessment of fetal cardiac and non-cardiac anatomy in the first trimester. Methods: Transabdominal CCT (4 -8 MHz) followed by HFLT (9 MHz) was used to study prospectively the visualization rate of basic and optional anatomical structures according to international guidelines. McNemar and Chi-square test were used to compare correlated and independent proportions respectively. Postnatal outcomes were traced. Results: Comparing with CCT alone, additional use of HFLT did not improve the completion rate of basic anomaly screen (95.0% vs. 97.0%, p = 0.5) in the 101 women studied, but it improved the visualization rate of some optional structures including lens (57.4% vs. 73.3%), three-vessel view (3 VV) (17.8% vs. 48.5%), left ventricular outflow tract (17.8% vs. 51.5%), kidneys (8.9% vs. 47.5%), and umbilical artery (86.1% vs. 93.1%) (all p < 0.05). Favourable fetal position was associated with a better visualisation of four-chamber view and 3VV (p < 0.05). Conclusions: Our findings supported that the use of HFLT in addition to CCT does not improve the completion of basic anomaly screen, nor does it achieve a high visualisation rate of different cardiac views in the first trimester.

show abstract

First Trimester Ultrasound Assessment for Fetal Aneuploidy

Cited by 9 publications

References 89 publications

Improving women’s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

Improving women’s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome – development and acceptability of a low literacy decision aid

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

The Use of a High Frequency Linear Transducer in the Assessment of Fetal Anatomy at the Routine 11 to 13 + 6-Week Scan among Chinese Population

Contact Info

Product

Resources

About