Objectives
To compare the sonographic signs of spina bifida obtained on axial and sagittal views of the fetal head between 11 and 13+6 weeks of gestation.
Methods
This was a retrospective study including 27 cases of spina bifida and 1003 randomly selected controls. Indirect markers of spina bifida were evaluated on stored ultrasound images. Intracranial translucency (IT), ratio between the brainstem and the brainstem–occipital bone distance (BS/BSOB), and maxillo‐occipital (MO) line were assessed on sagittal view, whereas biparietal diameter (BPD), BPD to abdominal circumference ratio (BPD/AC), and aqueduct to occipital bone (aqueduct of Sylvius [AoS]) distance were measured on the axial plane. Reference ranges were developed, and cases of spina bifida were examined in relation to the reference range.
Results
On the sagittal view, detection rates for IT below the fifth percentile, BS/BSOB above the 95th percentile, and an abnormal MO line were 52.3%, 96.3%, and 96.3%, respectively. On the axial view, detection rates for BPD, BPD/AC, and AoS below the fifth percentile were 66.7%, 70.4%, and 77.8%, respectively.
Conclusion
The MO line and the BS/BSOB ratio appear to be the best indirect ultrasound markers of spina bifida and can be easily obtained during the routine first‐trimester scan.
Maxillo-occipital line is an easy addition to the evaluation of first-trimester screening of open spina bifida. Further studies are needed to determine the false-positive and false-negative rates of this technique.
Objective
To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non‐invasive prenatal testing (NIPT).
Methods
A retrospective study of women undergoing pre‐NIPT ultrasound with fetal crown‐rump length (CRL) of 28 to 44 mm was conducted at a tertiary obstetric ultrasound clinic in Melbourne, Australia. Cases of reported fetal edema were included, and subclassified as isolated nuchal edema (>2.2 mm) or generalized edema/hydrops by two operators blinded to outcomes.
Results
We identified 104 cases of fetal edema. Nuchal edema and generalized edema were present in 40 (38.5%) and 64 (61.5%) cases, respectively. Relevant chromosomal anomalies were identified in 19.2% (20/104), occurring in 10.0% (4/40) of the nuchal edema and 25.0% (16/64) of the generalized edema/hydrops cases. Structural anomalies with normal karyotype occurred in four (3.8%) additional cases. Miscarriage occurred in four cases (3.8%) and termination of pregnancy in 18 cases (17.3%). Among cases that reached the 11 to 13+6 weeks ultrasound, the edema resolved in 81.9% and these cases had less adverse outcomes than those with NT≥3.5 mm (10.9% vs 76.5%, P < .001).
Conclusions
Fetal edema in early pregnancy is associated with a high incidence of structural and/or chromosomal abnormalities; these rates increase with progressive severity.
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.
Advent in three-dimensional (3D) imaging technology has seen 3D ultrasound establish itself as a useful adjunct complementary to traditional two-dimensional imaging of the female pelvis. This advantage largely arises from its ability to reconstruct the coronal plane of the uterus, which allows further delineation of many gynecological disorders. 3D imaging of the uterus is now the preferred imaging modality for assessing congenital uterine anomalies and intrauterine device localization. Newer indications include the diagnosis of adenomyosis. It can also add invaluable information to delineate other endometrial and myometrial pathology such as fibroids and endometrial polyps.
Objective: To determine the proportion of major fetal structural abnormalities that can be detected before 11 gestational weeks.
Methods:We conducted a retrospective study of individual patient files at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. All women who had a pre-cell-free DNA ultrasound with a crown-rump length of less than 45 mm and had one or more ultrasounds at a later gestation were included in the analysis. The primary outcome was the incidence of a fetal structural abnormality.Results: A total of 3333 cases were included in the final analysis. Overall, 316 fetuses (9.5%) had a structural abnormality detected at any point throughout gestation, of which 86 were major structural abnormalities (2.6%). Sixteen fetal abnormalities were detected before 11 weeks of gestation, including 15 major abnormalities (17.4% of the major anomalies). All major fetal abnormalities detected before 11 gestational weeks were confirmed at later ultrasound examinations or the pregnancy did not continue (in four cases due to termination of pregnancy and in one case spontaneous miscarriage before first trimester morphology ultrasound).
Conclusion:Detection of fetal abnormalities is possible before 11 weeks of gestation. Early suspicion is more likely in cases of major structural abnormalities.
Key points
What is already known about this topic?� Many fetal structural abnormalities are detectable in the antenatal period using obstetric ultrasound.� Fetal structural abnormalities are usually detected at the mid-trimester morphology ultrasound (performed at 18-24 weeks' gestation) or the first trimester morphology ultrasound (11-14 weeks' gestation).� Abnormalities are more likely to be diagnosed at a later gestation.
What does this study add?� There has been little study to date on the detection of fetal structural abnormalities before 11 weeks of gestation.� This study investigates the proportion of fetal structural abnormalities detected at less than 11 weeks of gestation as compared with detection at a later gestation.
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