P12.13: Ultrasound reference ranges for fetal nasal bone in a Chilean population and its role as screening test for chromosomal abnormalities at 22-25 weeks of gestation

Abstract Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture. Single nucleotide polymorphism microarray (SNP-array) was used to analyze fetal chromosomes.Results: Of the 102 fetuses with nasal bone absence or hypoplasia, 25 (24.5%) had chromosomal abnormalities, including 15 cases of trisomy 21, one trisomy 18 case, and 9 cases of other copy number variations. Among the 52 cases with isolated nasal bone absence or hypoplasia, 7(13.5%) had chromosomal abnormalities. In 50 cases, abnormal nasal bone with additional soft markers or structural abnormalities was observed, while 18 cases (36.0%) had chromosomal abnormalities, which were significantly higher than that among the fetuses with isolated nasal bone abnormality.Conclusion: Fetal nasal bone absence or hypoplasia can be used as an indication for prenatal diagnosis. The detection rate of chromosomal abnormalities increases with additional soft markers or structural abnormalities. This study demonstrates that fetal nasal bone absence or hypoplasia is associated with micro-deletions or micro-duplications of chromosomes. Application of single nucleotide polymorphism microarray (SNP-array) technology can reduce the rate of missed prenatal diagnoses.

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EP04.15: Reference range of fetal nasal bone and its role for aneuploidy screening 11+0–13+6 weeks in a Chilean population

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21170 ◽

2019 ◽

Vol 54 (S1) ◽

pp. 252-252

Author(s):

A. Sepúlveda‐Martínez ◽

P. Zuazagoitia ◽

H. Muñoz ◽

M.B. Silva ◽

R. Guiñez ◽

...

Keyword(s):

Reference Range ◽

Nasal Bone ◽

Aneuploidy Screening ◽

Fetal Nasal Bone ◽

Chilean Population

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Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-04332-0 ◽

2022 ◽

Vol 22 (1) ◽

Author(s):

Savitree Pranpanus ◽

Kanokkarn Keatkongkaew ◽

Manaphat Suksai

Keyword(s):

Down Syndrome ◽

High Risk ◽

Pregnant Women ◽

Chromosomal Abnormalities ◽

Intraclass Correlation ◽

Nasal Bone ◽

Reference Ranges ◽

Second Trimester ◽

2D Ultrasound ◽

Down Syndrome Screening

Abstract Background To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. Methods A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. Results In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. Conclusion The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. Trial registration Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.

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EP04.02: Ultrasound reference ranges for fetal prenasal thickness and its role as screening test for chromosomal abnormalities at 16–25 weeks of gestation

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.21157 ◽

2019 ◽

Vol 54 (S1) ◽

pp. 248-248

Author(s):

M. Parra‐Cordero ◽

A. Sepúlveda‐Martínez ◽

P. Socias ◽

H. Muñoz ◽

G.I. Rencoret ◽

...

Keyword(s):

Screening Test ◽

Chromosomal Abnormalities ◽

Reference Ranges

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Ultrasound screening and catamnesis of euploid fetuses with nasal bones aplasia/hypoplasia

10.21516/2413-1458-2017-16-1-22-31 ◽

2017 ◽

Author(s):

N.P. Veropotvelyan, A.A. Bondarenko

Keyword(s):

Chromosomal Abnormalities ◽

Nasal Bone ◽

Normal Karyotype ◽

Psychomotor Development ◽

Ultrasound Screening ◽

Normal Height ◽

Term Infants ◽

Nasal Bones ◽

Postnatal Outcome ◽

Selection Of

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.

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