Detection of Fetal Structural Anomalies in a Basic First‐Trimester Screening Program for Aneuploidy

Bromley, Bryann; Shipp, Thomas; Lyons, Jennifer G.; Navathe, Reshama S.; Groszmann, Yvette; Benacerraf, Beryl R.

doi:10.7863/ultra.33.10.1737

Cited by 47 publications

(51 citation statements)

References 27 publications

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“…At 11-13 weeks of gestation, some structural abnormalities can be identified by ultrasound scanning, which includes cystic hygroma, anencephaly, and other fetal abnormalities. [39][40][41] Nuchal translucency measurement screens mainly for the common trisomies (which would be screened by cfDNA screening as well), SMFM Consult Series ajog.org and the additional clinical utility of nuchal translucency to detect other chromosomal or structural abnormalities is unknown but appears to be limited. 38 What is the benefit of cfDNA screening for microdeletions?…”

Section: Smfm Consult Seriesmentioning

confidence: 99%

#36: Prenatal aneuploidy screening using cell-free DNA

2015

American Journal of Obstetrics and Gynecology

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Recent advances in technology have created exciting opportunities to expand and improve genetic testing options that are available to women during pregnancy. However, the novelty and complexity of these technologies, combined with the commercial interest to implement these tests rapidly into routine clinical care, have created challenges for physicians and patients and potentially will lead to misunderstanding, misuse, and unintended consequences. The purpose of this document was to aid clinicians in their day-to-day practice of counseling patients regarding prenatal aneuploidy testing options with cell-free DNA screening, which includes how it compares to current testing methods, potential benefits and harms, and its limitations and caveats.

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Section: Smfm Consult Seriesmentioning

confidence: 99%

#36: Prenatal aneuploidy screening using cell-free DNA

2015

American Journal of Obstetrics and Gynecology

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“…7 The detection of sirenomelia which is similar to symmelia seen in our case series has been described in another article. 2 Increased nuchal translucency is associated with increased incidence of chromosomal anomalies. However, this does not mean that all fetuses with a nuchal translucency within normal limits will be structurally normal.…”

Section: Discussionmentioning

confidence: 99%

“…First trimester ultrasound examination has been used for the past 25 years as an adjunct to biochemistry for the detection of aneuploidy commonly the most frequently occurring anomalies such as trisomy 21. 1 First-trimester combined biochemical screening can detect up to 95% of fetuses with trisomy 21 and around 78% to 90% of other trisomies (with a false positive rate of 5%) 2 As an addition to the imaging of crown rump length and nuchal translucency, the increased use of trans-vaginal scan and the improved resolution of ultrasound machines has increased the detection of anomalies in the first trimester. However, with the introduction and gradual increase in the use of cell free DNA in prenatal diagnosis of chromosomal abnormality, there may be questions whether ultrasound examination 11-14 week window period continues to have use.…”

Section: Introductionmentioning

confidence: 99%

First Trimester Ultrasound : Addition of Anatomical Screening Adds Value to the Examination: A Retrospective Case Series

Andrew¹,

Gopal²,

Ramachandran³

et al. 2015

jemds

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CONTEXT: First trimester scans have been performed for measurement of crown rump length and nuchal translucency, for combined screening. Now the scanning protocol is broadened to include a full anatomic screening of the fetus. The introduction of cell free DNA (cfDNA) to prenatal diagnosis for aneuploidy raises questions to the continued use of first trimester scanning as this test, has a higher sensitivity and specificity. AIMS: The aim of this study was to demonstrate the detection of fetal and maternal findings in first trimester ultrasound, which would influence outcome or alter management of the pregnancy. SETTINGS AND DESIGN: The study was a retrospective analysis of the first trimester scans performed in the Fetal Medicine Division of the Obstetrics and Gynecology department of a tertiary referral center for a one year period, from January 1, 2014, to December 31, 2014. MATERIALS AND METHODS: All first trimester scans performed in the unit were studied regardless of number of fetuses or maternal factors. A total of 14429 obstetric scans were performed, of which 4421 were between 11-14 weeks gestation. The details and outcome of cases were obtained from the institution database or from the patients telephonically if they delivered at another institution. 38 (0.8%) cases were abnormal. 11(29%) were asymptomatic embryonic demise and 4 were gynaecological problems. 22 cases (58%) were structural anomalies or increased nuchal translucency (>3.5mm). Of these 21 cases in whom follow up was obtained, 19 resulted in termination of pregnancy. In 4 of 6 cases of isolated increased nuchal translucency, karyotype was done and revealed 3 (75%) to be abnormal. In the other case, the karyotype is normal and the pregnancy is now ongoing. One patient who deferred direct testing delivered a neonate confirmed to be trisomy 21. CONCLUSION: Use of ultrasound in the first trimester has moved beyond aneuploidy screening with detailed guidelines available for anatomical screening. The first trimester ultrasound continues to be useful despite advances in aneuploidy detection strategies, as it offers an opportunity for the detection of major structural anomalies and enables early termination of pregnancy if required with less morbidity to the mother.

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“…It has been estimated that about 40% of lethal anomalies can be detected by ultrasound alone in the first trimester. 37 Confirmation of chorionicity is of utmost importance as monochorionic twins are highly likely to have some placental vascular sharing. Ultrasound determination of www.clinicalobgyn.com dichorionicity in the first trimester is extremely accurate by visualizing a ''lambda sign'' at the junction of 2 sacs.…”

Section: Preprocedures Analysis and Counselingmentioning

confidence: 99%

Multifetal Pregnancy Reduction

Običan

Brock

Berkowitz

et al. 2015

Clinical Obstetrics &Amp; Gynecology

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Multiple gestations of triplets or more have a significant increase in perinatal morbidity and mortality compared with twins. On average, triplet gestations deliver at approximately 33.5 weeks. Approximately 25% deliver at <32 weeks and 10% deliver <28 weeks. Maternal complications are also significantly increased. Multifetal pregnancy reduction involves the ultrasonically guided injection of KCl into the fetal thorax to induce asystole. It is performed to reduce the potential for early preterm delivery associated with higher-order multiple gestations. Multifetal pregnancy reduction to twins increases gestational age at delivery by 4 weeks and significantly improves maternal and fetal outcomes.

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Detection of Fetal Structural Anomalies in a Basic First‐Trimester Screening Program for Aneuploidy

Abstract: First-trimester aneuploidy screening sonography initially performed by credentialed sonographers can identify a substantial proportion of major and lethal anomalies.

Cited by 47 publications

References 27 publications

#36: Prenatal aneuploidy screening using cell-free DNA

#36: Prenatal aneuploidy screening using cell-free DNA

First Trimester Ultrasound : Addition of Anatomical Screening Adds Value to the Examination: A Retrospective Case Series

Multifetal Pregnancy Reduction

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