Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Moczulska, Hanna; Serafin, Marcin; Wojda, Katarzyna; Borowiec, Maciej; Sieroszewski, Piotr

doi:10.3390/jcm11061513

Cited by 9 publications

(9 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A previous study conducted by Shi et al (2022) emphasized the importance of applying CMA in diagnosing chromosome abnormalities, particularly pathogenic CNVs, in fetuses presenting with isolated absent or hypoplastic nasal bone. Similar to previous studies (Li et al, 2023;Moczulska et al, 2022), in the present study, a high pCNVs detection rate was observed in the isolated absent/hypoplastic nasal bone group. Notably, a significant disparity in pCNVs detection rates existed between the isolated absent or hypoplastic nasal bone and non-isolated groups.…”

Section: Discussionsupporting

confidence: 92%

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis

Chen,

Jiang,

Zeng

et al. 2024

Birth Defects Research

View full text Add to dashboard Cite

BackgroundPathogenic copy number variants (pCNVs) are associated with fetal ultrasound anomalies, which can be efficiently identified through chromosomal microarray analysis (CMA). The primary objective of the present study was to enhance understanding of the genotype–phenotype correlation in fetuses exhibiting absent or hypoplastic nasal bones using CMA.MethodsEnrolled in the present study were 94 cases of fetuses with absent/hypoplastic nasal bone, which were divided into an isolated absent/hypoplastic nasal bone group (n = 49) and a non‐isolated group (n = 45). All pregnant women enrolled in the study underwent karyotype analysis and CMA to assess chromosomal abnormalities in the fetuses.ResultsKaryotype analysis and CMA detection were successfully performed in all cases. The results of karyotype and CMA indicate the presence of 11 cases of chromosome aneuploidy, with trisomy 21 being the most prevalent among them. A small supernumerary marker chromosome (sSMC) detected by karyotype analysis was further interpreted as a pCNV by CMA. Additionally, CMA detection elicited three cases of pCNVs, despite normal findings in their karyotype analysis results. Among them, one case of Roche translocation was identified to be a UPD in chromosome 15 with a low proportion of trisomy 15. Further, a significant difference in the detection rate of pCNVs was observed between non‐isolated and isolated absent/hypoplastic nasal bone (24.44% vs. 8.16%, p < .05).ConclusionThe present study enhances the utility of CMA in diagnosing the etiology of absent or hypoplastic nasal bone in fetuses. Further, isolated cases of absent or hypoplastic nasal bone strongly suggest the presence of chromosomal abnormalities, necessitating genetic evaluation through CMA.

show abstract

Section: Discussionsupporting

confidence: 92%

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis

Chen,

Jiang,

Zeng

et al. 2024

Birth Defects Research

View full text Add to dashboard Cite

show abstract

“…Table 1 summarizes information on the 7 studies included in the current study. 12 13 14 15 16 17 18 Cai et al 12 evaluated the genetic abnormalities of fetuses with CPC using SNP array results. They reported that isolated CPC with normal karyotype was associated with pathogenic CNVs in about 3.9% of cases.…”

Section: Resultsmentioning

confidence: 99%

“… 19 20 21 In addition, the prevalence of seizures and abnormal brain imaging is higher among probands with the 16p11.2 duplication than in the general population. 17 A large meta-analysis by Chan et al 19 concluded that this variant is rare in the general population (0.025%), and the estimated penetrance of this CNV is 10–20% among probands with the 16p11.2 duplication. 23 …”

Section: Discussionmentioning

confidence: 99%

Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence

Kim,

Jung,

et al. 2024

J Korean Med Sci

View full text Add to dashboard Cite

Background Ultrasonographic soft markers are normal variants, rather than fetal abnormalities, and guidelines recommend a detailed survey of fetal anatomy to determine the necessity of antenatal karyotyping. Anecdotal reports have described cases with ultrasonographic soft markers in which chromosomal microarray analysis (CMA) revealed pathogenic copy number variants (CNVs) despite normal results on conventional karyotyping, but CMA for ultrasonographic soft markers remains a matter of debate. In this systematic review, we evaluated the clinical significance of CMA for pregnancies with isolated ultrasonographic soft markers and a normal fetal karyotype. Methods An electronic search was conducted by an experienced librarian through the MEDLINE, Embase, and Cochrane CENTRAL databases. We reviewed 3,338 articles (3,325 identified by database searching and 13 by a hand search) about isolated ultrasonographic soft markers, and seven ultrasonographic markers (choroid plexus cysts, echogenic bowel, echogenic intracardiac focus, hypoplastic nasal bone, short femur [SF], single umbilical artery, and urinary tract dilatation) were included for this study. Results Seven eligible articles were included in the final review. Pathogenic or likely pathogenic CNVs were found in fetuses with isolated ultrasonographic soft markers and a normal karyotype. The overall prevalence of pathogenic or likely pathogenic CNVs was 2.0% (41 of 2,048). The diagnostic yield of CMA was highest in fetuses with isolated SF (9 of 225, 3.9%). Conclusion CMA could aid in risk assessment and pregnancy counseling in pregnancies where the fetus has isolated ultrasonographic soft markers along with a normal karyotype.

show abstract

“…In addition, even when the most common trisomy 21, 18, 13 are excluded, it has been recommended to perform chromosomal microarray analysis when hypoplasia of nasal bone is encountered. 8 Facial structure and therefore nasal bone structures may differ based on ethnic group, race, and genetic factors. For the diagnosis of nasal bone shortness, the normal nasal bone length (NBL) values of each population should initially be determined.…”

Section: Second Trimester Fetal Nasal Bone Length Measurement: a Sing...mentioning

confidence: 99%

Second Trimester Fetal Nasal Bone Length Measurement: A Single Center Study and National Data Review

BOZBAY,

AVCI,

ÖRGÜL

2023

J Clin Obstet Gynecol

View full text Add to dashboard Cite

To evaluate second trimester fetal nasal length measurement results in healthy singleton pregnancies in Turkey. Material and Methods: We analyzed the nasal bone lengths within 19-24 weeks in 661 pregnancies in our hospital. All pregnant women with a single healthy fetus who applied to our perinatology outpatient clinic for detailed obstetric ultrasonography were included in the study. All measurements were performed by the same clinician during routine mid-trimester ultrasound scan. Only the patients who were considered healthy by the examining pediatrician were included in the study. The parents of all fetuses are of Turkish ethnicity. Pearson correlation, regression analysis and P value were calculated between gestational week and nasal bone length. Results: Mean nasal length measurement was 6

show abstract

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Cited by 9 publications

References 28 publications

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis

Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis

Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence

Second Trimester Fetal Nasal Bone Length Measurement: A Single Center Study and National Data Review

Contact Info

Product

Resources

About