Sonographic detection of fetal abnormalities before 11 weeks of gestation

Rolnik, Daniel L.; Wertaschnigg, Dagmar; Benoit, B.; Meagher, Simon

doi:10.1002/uog.21921

Cited by 13 publications

(16 citation statements)

References 21 publications

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“…It is well known that fetal abnormalities are more easily identified at a later gestation 20,21 . Nevertheless, recent evidence suggests that a significant number of abnormalities can be detected at the first trimester morphology ultrasound, 21 some even before 11 weeks 9 . However, the detection of structural abnormalities at this early gestation is highly dependent upon the technology available as well as the skill level of the clinician performing the ultrasound.…”

Section: Discussionmentioning

confidence: 99%

“…2,8 An ultrasound performed just prior to cfDNA screening (pre-cfDNA ultrasound) determines the number of fetuses, fetal viability, gestational age, identifies a demised twin and sometimes could identify a major fetal structural abnormality. 9 Performance of an ultrasound before cfDNA screening is recommended by many governing bodies based on expert opinion 10,11 ; however, there is a lack of evidence to support this practice in the general obstetric population. One study of women of advanced maternal age (AMA) found that a pre-cfDNA screening ultrasound changed management in 16.1% of cases.…”

Section: Introductionmentioning

confidence: 99%

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The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities

et al. 2020

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Objective: This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening. Methods: A retrospective study was conducted at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. Individual patient files were reviewed and results were collated for maternal characteristics, pre-cfDNA ultrasound reports, results and test characteristics of both cfDNA and diagnostic testing, and genetic counselling notes. The primary outcome was a potential change in patient management due to findings detected on the pre-cfDNA ultrasound. Results: Of 6250 pre-cfDNA ultrasounds, 6207 were included in analysis. Of these, 598 (9.6%) pregnancies had a finding on pre-cfDNA ultrasound that had the potential to change management. The reasons for this potential change in management were detection of gestational age below 10 weeks (245, 3.9%), miscarriage (175, 2.8%), demised twin (43, 0.7%), fetal edema (115, 1.9%) and major structural abnormalities (20, 0.3%). These findings were more common in patients of advanced maternal age and in spontaneous conceptions. Conclusions: An ultrasound prior to cfDNA screening has the potential to change clinical management in almost one in 10 women. The proportion is higher in older age groups and lower in IVF-conceived pregnancies.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The importance of ultrasound preceding cell‐free DNA screening for fetal chromosomal abnormalities

et al. 2020

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“…11 Fetal kidneys can be visualized on prenatal ultrasound by as early as 9 weeks in 50% of cases. 12 CDH is usually diagnosed antenatally in the second trimester in two-thirds of cases with bowel, stomach, and/or liver being the usual contents. Prenatal diagnosis of CDH is quite straightforward with echogenic contents seen in the thorax on axial section of the thorax showing the four-chamber view of the heart.…”

Section: Discussionmentioning

confidence: 99%

“…Fetal kidneys can be visualized on prenatal ultrasound by as early as 9 weeks in 50% of cases 12 . CDH is usually diagnosed antenatally in the second trimester in two‐thirds of cases with bowel, stomach, and/or liver being the usual contents.…”

Section: Discussionmentioning

confidence: 99%

A missing kidney and a hidden congenital diaphragmatic hernia

Singh

Shahnaz

Handa

et al. 2020

J of Clinical Ultrasound

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Congenital intrathoracic kidney (ITK) is a rare condition, which is usually discovered incidentally in asymptomatic children who do not need any intervention. However, it may be associated with congenital diaphragmatic hernia (CDH), in which case it requires urgent surgical intervention. We present a case of prenatally diagnosed ITK associated with a left CDH that was operated on day 5 of life. The neonate is currently well at 15 months of age.

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“…6 Detection of major fetal abnormalities have been reported before 11 weeks of gestation and have the potential to alter screening and diagnostic pathways. 7,8 Although poor prognostic factors for occipital encephaloceles have been identified, namely size of herniated brain tissue, presence of other complications such as ventriculomegaly, This article is protected by copyright. All rights reserved.…”

Section: Introductionmentioning

confidence: 99%