Prenatal Diagnosis
Anatomy · Topic 81
Source: NMC CBME Curriculum 2024 · Volume I · Anatomy · Topic 81 · combined PDF page 148
Practice questions
- A fetal diagnostic test is being selected to investigate a suspected chromosomal copy-number deletion or duplication. Which technology is described by the supplied 2023 guideline as a first-line diagnostic technology for this purpose?
- A structurally anomalous fetus has a nondiagnostic CMA. A team considers sequencing for an additional genetic diagnosis. Which statement best reflects the supplied systematic review?
- A service is reviewing sequencing results from a carefully selected group of fetuses with structural anomalies. Which subgroup yield in the supplied systematic review most closely matches this selected cohort?
- A clinician compares sequencing results from an unselected cohort of fetuses with structural anomalies with the review's subgroup estimates. Which incremental yield was reported for unselected cohorts?
- In the supplied systematic review, sequencing yield was also evaluated in exploratory cohorts. Which incremental yield was reported for that subgroup?
- A patient is told that sequencing has a 27% pooled incremental yield in the review and asks whether this is her fetus's personal probability of receiving a diagnosis. Which response is best?
- An audit finds that a center quotes the selected-cohort sequencing yield to every family, irrespective of case selection. Which correction is most consistent with the supplied evidence?
- A prenatal sequencing pathway is being designed after a nondiagnostic CMA. Which additional approach was reported to provide nine diagnoses in the supplied systematic review?
- A center is drafting a prenatal NGS protocol. Which set of issues is explicitly included in the supplied Spanish guideline abstract?
- A prenatal diagnostic laboratory has excellent sequencing instrumentation but no agreed policy for which findings to report or how to counsel families. Which conclusion is best supported by the supplied NGS guideline abstract?
- A laboratory is revising its CMA workflow. Which element is specifically identified in the supplied 2023 guideline abstracts as a necessary aspect of applying CMA in prenatal diagnosis?
- A fetal CMA result has been generated, but the team has not established a process for analyzing and interpreting the data. Which action most closely aligns with the supplied guideline?
- A prenatal CMA service is standardizing how results are communicated to referring clinicians and families. Which practice domain is specifically named in the supplied CMA guideline abstracts?
- A service plans to offer prenatal CMA without documenting why testing is clinically appropriate in each case. Which guideline-supported principle should prompt reconsideration?
- A couple is preparing for prenatal CMA. Which service component is specifically addressed in the supplied CMA guideline abstracts both before and after testing?
- A couple conceives after embryo transfer following preimplantation genetic testing. Which approach to prenatal follow-up is consistent with the supplied SIGU recommendations?
- Two pregnancies followed different types of preimplantation genetic testing, with different reported PGT results. According to the supplied SIGU guideline, what is the best basis for deciding their prenatal diagnostic follow-up?
- A prenatal genetics team is asked whether the significance of a PGT result matters when planning diagnostic follow-up. Which statement best matches the supplied SIGU recommendations?
- A patient with a fetus with a structural anomaly asks why sequencing might be considered after CMA. Which answer is best supported by the supplied systematic review?
- A prenatal sequencing study reports a yield of 40% in selected cases and 20% in unselected cases. Which interpretation is most consistent with the supplied systematic review?
- A review committee sees an overall incremental sequencing yield of 27% and selected-cohort yield of 40%. Which statement correctly distinguishes the estimates?
- A laboratory proposes reporting sequencing yield without defining whether cases were selected, unselected, or exploratory. What is the chief interpretive limitation according to the supplied review?
- A fetal medicine unit is updating its prenatal NGS policy to promote consistent implementation across clinicians. Which goal is most aligned with the supplied Spanish guideline abstract?
- A clinic is reviewing its genomic-data policy for prenatal NGS. Which policy area is explicitly included in the supplied guideline's scope?
- A center is developing a protocol for prenatal sequencing in fetal structural anomalies. Which approach is most consistent with the evidence summarized in the supplied systematic review?
- A clinical team is discussing whether CMA and prenatal sequencing address identical roles in the supplied evidence. Which statement is best supported?
- A team reports that prenatal sequencing provided nine diagnoses through concurrent CNV analysis and concludes that this proves concurrent analysis will always add nine diagnoses in every center. Which response is most appropriate?
- A prenatal genetics service is preparing for both CMA and NGS consultations. Which overarching practice is supported across the supplied guideline abstracts?
- A prenatal diagnostic program wants to improve CMA implementation in line with the supplied 2023 guideline. Which combination includes only domains specifically emphasized in the guideline abstract?
- A clinician plans to reassure every family that prenatal sequencing will diagnose an anomaly because the selected-cohort yield was 40%. Which explanation best corrects this counseling?