4.4 Review

Antenatal screening for chromosomal abnormalities

Related references

Note: Only part of the references are listed.
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Summary: This study calculated the residual risk for clinically significant copy number variants following theoretically normal noninvasive prenatal screening. It found that the risk is appreciable in pregnancies without structural sonographic anomalies and depends on the extent of noninvasive prenatal screening and maternal age. These findings are important for informed decision-making regarding prenatal testing and screening options.

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Summary: Prenatal exome sequencing has a low diagnostic yield for fetuses with isolated increased nuchal translucency, but significantly higher when there are additional structural anomalies present. It may not be appropriate for truly isolated increased NT cases, but careful ultrasound scanning to identify other anomalies emerging later can direct testing to focus where there is a higher likelihood of diagnosis.

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Summary: This study evaluated the diagnostic accuracy of ultrasound at 11-14 weeks' gestation in detecting fetal cardiac abnormalities and factors impacting the detection rate. It found that first-trimester ultrasound can identify over half of fetuses affected by major cardiac pathology. Future screening programs should consider structured anatomical assessment protocols and the introduction of outflow-tract views and color-flow Doppler imaging to improve detection rates of fetal cardiac pathology.

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Summary: First-trimester ultrasound scans have been used in China for nearly 20 years, with a recent study suggesting that a standardized anatomic protocol is crucial for improving sensitivity. This large retrospective study of over 59,000 pregnancies found that routine first-trimester scans had high detection rates for various structural abnormalities, emphasizing the importance of standardized protocols in ultrasound screening.

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Summary: The study in Victoria, Australia, showed that pregnant women with nuchal translucency width of >=3.5 mm had a higher risk of chromosomal abnormalities detection, compared to those with smaller nuchal translucency measurements. They found that a gestational age-adjusted nuchal translucency threshold of 1.9 MoM or 99th centile is more effective in identifying atypical chromosome abnormalities than the fixed cutoff of 3.0 mm.

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Summary: The study found that low levels of free beta-hCG and increased fetal NT were statistically associated with atypical chromosomal abnormalities; additionally, altered serum levels of beta-hCG have a substantial impact on the early detection of clinically relevant copy number variants; traditional cFTS has the potential to identify a significant proportion of atypical chromosomal aberrations, with women with increased NT or low maternal serum beta-hCG levels at an increased risk of having pathogenic CMA results.

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