Article

CMA-first, ES-on-demand for fetuses with absent/hypoplastic nasal bone: a real-world diagnostic pathway and outcomes in 362 fetuses

2025-10-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Absent or hypoplastic nasal bones are typically detected by ultrasound at the first or second trimester, yet guidance on how to counsel patients about these findings and studies on the proportion attributable to genetic factors remain limited. <bold>Methods: </bold> A retrospective study was conducted on 362 fetuses (including 17 twin pregnancies) with isolate a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0dbcbcbd-7174-5ca4-acc9-390ee5bcb9c4
DOI: 10.21203/rs.3.rs-7705776/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CMA-first, ES-on-demand for fetuses with absent/hypoplastic nasal bone: a real-world diagnostic pathway and outcomes in 362 fetusesDOI 10.21203/rs.3.rs-7705776/v1Read

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomaliesSemantic proximity Read

Relationship Between the Timing of Fetal Nasal Bone Abnormalities and Fetal Chromosomal Anomalies: A Retrospective Study in a Chinese CohortSemantic proximity Read

Prenatal genetic evaluation and outcomes in pregnancies with first-occurrence typical orofacial cleftsSemantic proximity Read

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal boneSemantic proximity Read

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingSemantic proximity Read

[Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone].Semantic proximity Read

Diagnostic Value of Karyotyping, CMA/CNV-Seq, and WES in Fetuses with Thickened Nuchal Translucency: Perinatal and Two-Year Follow-Up OutcomesSemantic proximity Read

Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.Semantic proximity Read

A retrospective study for diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indicationsSemantic proximity Read

Fetal exome sequencing: yield and limitations in a tertiary referral centerSemantic proximity Read

Genetic diagnostic yield of prenatal testing for fetal central nervous system abnormalities: a phenotype-driven study in a large single-center cohortSemantic proximity Read

Prenatal Whole-exome Sequencing in a Russian Clinical Cohort: Diagnostic Yield, Indications, and Spectrum of Molecular FindingsSemantic proximity Read