ArticleMolecular cytogenetics2023
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China.
Article in Molecular cytogenetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- The Incremental Yield of CMA over Karyotype in Isolated Absent/Hypoplastic Nasal Bone-A Systematic Review and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2026Review
- Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications.BMC pregnancy and childbirth · 2026Article
- Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.Frontiers in medicine · 2026Article
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.Biomedicines · 2023Review
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10 authors.
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Abstract
backgroundThere are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in fetuses with different USMs.
methodsThis study included fetuses with USMs who underwent invasive prenatal diagnosis for karyotype and/or chromosomal microarray (CMA) by categorizing into two groups: a single USM (SUSM) and multiple USMs (MUSMs).
resultsOf the 358 cases with USMs, CSCA occurred in 3.09% (8/259) and 8.08% (8/99) of the SUSM and MUSM groups, respectively (P < 0.05). Of 16 cases identified with CSCA, theoretically 68.75% (11/16) could be detected by karyotype, while 31.25% (5/16) could be recognized only by CMA. Among CSCA cases, the most frequent USM was an absent or hypoplastic nasal bone (62.5%, 10/16). In cases with negative karyotypes and/or CMA, follow-up results were available in 307 cases, including 292 term deliveries, 6 preterm deliveries, 8 terminations of pregnancy due to USMs, and 1 still birth.
conclusionMUSMs increased the risk of chromosomal abnormalities. An absent or hypoplastic nasal bone was the most clinically significant marker either alone or in combination with other USMs. Most of SUSM had a good prognosis.
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