‘Normal’ nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects

Becker, Rolf; Schmitz, L.; Kilavuz, Stefania; Stümm, Markus; Wegner, Rolf-Dieter; Bittner, Uta

doi:10.1002/pd.3854

Cited by 24 publications

(33 citation statements)

References 45 publications

(82 reference statements)

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“…Among those, 32 were excluded from further analysis, and five more were excluded because they expressed NT cut‐offs as absolute values. Therefore, 20 studies were used for data synthesis (Tables S1 and S2; Figure S). The assessment of quality and risk of bias of the included studies is presented in Table S3.…”

Section: Resultsmentioning

confidence: 99%

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Sotiriadis

Papatheodorou

Eleftheriades³

et al. 2013

Ultrasound in Obstet & Gyne

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Section: Resultsmentioning

confidence: 99%

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Sotiriadis

Papatheodorou

Eleftheriades³

et al. 2013

Ultrasound in Obstet & Gyne

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“…A major anomaly was defined as a defect present during pregnancy after 10 weeks' gestation that, in the absence of treatment, either was incompatible with life or would lead to a severe handicap and would be detectable during the paediatric examination at five to 10 postnatal days. 20,21 As part of a standardized form distributed during the explanatory talk preceding ultrasound examination, each patient was asked during the first prenatal interview whether she and her partner were biological relatives, and if so, the nature of their relationship, that is, categorized as first cousin, equivalent to a coefficient of inbreeding, F = 0.0625, or related to a lesser degree, F < 0.0625. All patients also were requested to complete and return a feedback form after delivery, containing information on their pregnancy, the birth and the health of their newborn.…”

Section: Methodsmentioning

confidence: 99%

Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population

Becker¹,

Keller²,

Wegner³

et al. 2014

Prenat Diagn

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(2014) Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population. Prenatal Diagnosis, 35 (1). pp. 81-89. WHAT'S ALREADY KNOWN ABOUT THIS TOPIC? Numerous studies of postnatal cohorts show that consanguineous couples have an increased risk of major anomalies in their offspring. Up to now, no comprehensive study exists showing that the risk of major congenital anomalies in the offspring of consanguineous couples is higher than previously estimated if the prenatal situation is included WHAT DOES THIS STUDY ADD? Adjusted frequencies of major anomalies were 2.8% in non-consanguineous,6.1% in consanguineous couples (8.5% in first cousin progeny, 3.9% in beyond first cousin). Applying a further adjustment for the significantly different frequencies of trisomic pregnancies (consanguineous: n = 1, non-consanguineous: n = 262), the overall risks were 2.0% and 5.9% respectively, i.e. a 3.9% excess risk attributable to consanguinity, 6.1% at first cousin level , 1.9% beyond first cousin level. Statement: Originality of publication The paper is submitted nowhere else. Statement: Ethics The data are anonymized retrospective evaluations of normal clinical treatment. Institutional or national ethical committee approval is therefore not required. This article is protected by copyright. All rights reserved. OBJECTIVE: Aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data of the prenatal situation. METHODS: Over 20 years (1993-2012), 35,391 fetuses were examined by prenatal sonography. In 675 cases (1.9%) parents were consanguineous, with 307 couples (45.5%) related as first cousins, 368 couples (54.5%) beyond first cousins,. Detailed information was retrieved on 31,710 (89.6%) fetuses, (consanguineous 568: 1.8%). RESULTS: Overall prevalence of major anomalies among fetuses with non-consanguineous parents was 2.9% (consanguineous: 10.9%: first cousins 12.4%, beyond first cousins 6.5%). Adjusting the overall numbers for cases having been referred because of a previous index case, the prevalences were 2.8% (non-consanguineous) and 6.1% (consanguineous) (first cousin 8.5%, beyond first cousin 3.9%). Further adjustment for differential rates of trisomic pregnancies indicated 2.0%/5.9% congenital anomalies (non-consanguineous/consanguineous groups), i.e. a consanguinity-associated excess of 3.9%, 6.1% in first cousin progeny and 1.9% beyond first cousin. CONCLUSIONS: The prevalence of major fetal anomalies associated with consanguinity is higher than in evaluations based only on postnatal life. It is important that this information is made available in genetic counselling programmes, especially in multi-ethnic and multi-religious communities, to enable couples to make informed decisions.

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“…In a large study, it was discussed that major anomalies are seen in 1.7% of cases in first trimester screening and hence first trimester screening for anomalies and cardiac anomalies should be performed to benefit the pregnant patient. 9 One case of open neural tube defect seen at CRL of 55mm was not detected and was seen at the next scan. Following this the protocol was made more stringent to include transvaginal examination of al fetuses showing obliteration of the intracranial translucency at the first trimester scan.…”

Section: Discussionmentioning

confidence: 99%

“…However, this does not mean that all fetuses with a nuchal translucency within normal limits will be structurally normal. The benefits of a first-trimester anomaly scan including fetal echocardiography performed on fetuses with a "normal" NT was described by Becker et al, 9 who detected 58.6% of major anomalies in this population of fetuses. In this manner, screening for structural anomalies has been gradually improved upon by various investigators until cardiac screening has also been included in the armamentarium.…”

Section: Discussionmentioning

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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‘Normal’ nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects

Cited by 24 publications

References 45 publications

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysis

Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population

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

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