scholarly journals Diagnostic value of chromosomal microarray in fetuses with isolated hypoplastic nasal bone

2019 ◽  
Vol 54 (2) ◽  
pp. 284-284
Author(s):  
Y. Z. Gu ◽  
D. L. Nisbet ◽  
K. L. Reidy ◽  
R. Palma‐Dias
Keyword(s):  
Nasal Bone ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Hypoplastic Nasal Bone

scholarly journals Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Jiasun Su ◽  
Huayu Fu ◽  
Bobo Xie ◽  
Weiliang Lu ◽  
Wei Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Snp Array ◽  
Nasal Bone ◽  
Hydrops Fetalis ◽  
Terminal Deletion ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Cri Du Chat Syndrome ◽  
Definitive Method ◽  
Hypoplastic Nasal Bone

Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China. Case presentation A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order. Conclusion Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

scholarly journals Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray

2019 ◽  
Vol 39 (2) ◽  
pp. 116-123 ◽  
Author(s):  
Ying Zhi Gu ◽  
Deborah L. Nisbet ◽  
Karen L. Reidy ◽  
Ricardo Palma-Dias
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Nasal Bone ◽  
Facial Dysmorphism ◽  
Potential Marker ◽  
Hypoplastic Nasal Bone

scholarly journals Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Zhu Zhang ◽  
Ting Hu ◽  
Jiamin Wang ◽  
Qinqin Li ◽  
He Wang ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Chorionic Villus ◽  
Nuchal Translucency ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Diagnostic Strategy ◽  
Clinical Value ◽  
Prenatal Diagnostic ◽  
Pathogenic Cnvs

Objective. To assess the clinical value of prenatal diagnosis using quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) for the examination of genomic imbalances in prenatal amniotic fluid samples from fetuses with a nuchal translucency (NT) greater than or equal to 2.5 mm. Materials and Methods. A total of 494 amniotic fluid samples and 5 chorionic villus samples were included in this study, with a fetal NT ≥ 2.5 mm at 11–13+6 weeks of gestation from November 2015 to December 2018. All cases were examined with QF-PCR, and those with normal QF-PCR results were then analyzed by CMA. Results. Of the 499 cases, common aneuploidies were detected by QF-PCR in 61 (12.2%) cases. One case of triploidy, one case of trisomy 21 mosaicism, and two cases of X/XX mosaicism were further confirmed by fluorescence in situ hybridization (FISH). Among the 434 cases with normal QF-PCR results, microarray detected additional pathogenic copy number variants (CNVs) in 4.8% (21/434) of cases. Six cases would have been expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving fifteen (3.5%, 15/428) cases with pathogenic CNVs only detectable by CMA. Pathogenic CNVs, especially those <10 Mb, were centralized in cases with an NT < 4.5 mm, including 5 pathogenic CNVs in cases with an NT of 2.5–3.5 mm and 7 pathogenic CNVs in cases with an NT of 3.5–4.5 mm. Conclusions. It is rational to use a diagnostic strategy in which CMA is preceded by a less-expensive, rapid method, namely, QF-PCR, to detect common aneuploidies. CMA allows for the detection of a number of pathogenic chromosomal aberrations in fetuses with an NT ≥ 2.5 mm.

scholarly journals Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: a prospective clinical study

2020 ◽  
Author(s):  
Hailong Huang ◽  
Yan Wang ◽  
Min Zhang ◽  
Na Lin ◽  
Gang An ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Microarray Analysis ◽  
Operating Characteristic ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Prospective Clinical Study ◽  
Chromosomal Microarray Analysis ◽  
Success Rates

Abstract Background Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and diagnostic value of CMA and karyotyping on chromosomal abnormalities in Fujian province of South China. Methods In the study, 410 samples were obtained from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). Each sample was screening for chromosomal abnormalities by both using CMA and karyotyping. Results The success rates of CMA and karyotyping were 100% (410/410) and 99.27% (407/410), respectively. 61 (14.88%, 61/410) samples were presented with chromosomal abnormalities using CMA, whereas 47 (11.46%, 47/410) samples were shown with chromosomal abnormalities using karyotyping. 31 (7.56%, 31/410) samples with normal karyotypes were found to have chromosomal abnormalities using CMA. Receiver operating characteristic (ROC) analysis showed that the area under the curve (AUC) of CMA on the diagnosis of chromosomal abnormalities was 0.93, with 90.68% sensitivity and 94.40% specificity. The AUC of karyotyping on the diagnosis of chromosomal abnormalities was 0.90, with 87.56% sensitivity and 91.22% specificity. Conclusions Our data demonstrated that CMA has a better diagnostic value for screening chromosomal abnormalities, especially for pregnant women with normal karyotypes.

scholarly journals Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

2021 ◽  
Vol 12 ◽  
Author(s):  
Yunyun Liu ◽  
Xiaosha Jing ◽  
Lingling Xing ◽  
Sha Liu ◽  
Jianlong Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Nasal Bone ◽  
Low Risk ◽  
Trisomy 13 ◽  
Second Trimester ◽  
Predictive Values ◽  
Noninvasive Prenatal Screening ◽  
Hypoplastic Nasal Bone

Background: We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.Methods: Data of pregnant women between April 2015 and December 2019 were retrospectively analyzed. Pregnant women [age at expected date of confinement (EDC) of &lt;35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. Cases with positive NIPS results were prenatally diagnosed. All patients were followed up for 6 months to 2 years after NIPS, and their clinical outcomes were obtained. Subgroup analyses were performed according to the different USMs.Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). Ten cases with aneuploidy (0.10%) were confirmed by prenatal diagnosis, consisting of two T21 and eight SCA. The eight fetuses with SCA consisted of one monosomy X, two XXY, one XXXY, one XXX, one XYY, and two mosaicisms. T21 was detected in one fetus with absent or hypoplastic nasal bone and one fetus with echogenic intracardiac focus (EICF). SCA was detected in five fetuses with EICF, two fetuses with multiple soft markers, and one fetus with echogenic bowel. The positive rate of chromosomal aneuploidy was significantly higher in fetuses with absent or hypoplastic nasal bone (6.25 vs. 0.10%, p = 0.017), echogenic bowel (3.7 vs. 0.10%, p = 0.029), and multiple soft markers (0.678 vs. 0.10%, p = 0.045) than in the total fetuses. The positive predictive values (PPVs) of NIPS in these three groups were 100%, 50%, and 100%, respectively. EICF accounted for 93.25% (9,346/10,023) of the study population, whereas the PPV of NIPS was only 20%.Conclusion: NIPS is an advanced screening test for low-risk pregnant women. In the 10,023 pregnant women sampled, SCA were more common than autosomal trisomy, and EICF was the most frequent USM but the least predictive aneuploidy. Further aneuploidy evaluation is suggested for low-risk pregnant women whose ultrasound indicates absent or hypoplastic nasal bone, echogenic bowel, or multiple soft markers. NIPS can serve as a second-line complementary screening for these women.

The diagnostic value of the sagittal multiplanar reconstruction CT images for nasal bone fractures

2010 ◽  
Vol 65 (4) ◽  
pp. 308-314 ◽  
Author(s):  
B.H. Kim ◽  
H.S. Seo ◽  
A.-Y. Kim ◽  
Y.S. Lee ◽  
Y.H. Lee ◽  
...  
Keyword(s):  
Bone Fractures ◽  
Nasal Bone ◽  
Diagnostic Value ◽  
Ct Images ◽  
Multiplanar Reconstruction

scholarly journals Prenatal Sonographic Detection of Multiple Congenital Anomalies: A Case of Severe Arthrogryposis Multiplex Congenita (AMC)

2017 ◽  
Vol 34 (2) ◽  
pp. 138-145
Author(s):  
Amy Bildner ◽  
Daniel Jackson
Keyword(s):  
Musculoskeletal System ◽  
Umbilical Artery ◽  
Nasal Bone ◽  
Arthrogryposis Multiplex Congenita ◽  
Second Trimester ◽  
Multiple Congenital Anomalies ◽  
Single Umbilical Artery ◽  
Obstetrical Patient ◽  
Hypoplastic Nasal Bone

This case study describes an obstetrical patient who presented for a routine second-trimester morphology sonogram in which the fetus was found to have arthrogryposis multiplex congenita. Other abnormalities visualized included a single umbilical artery, hypoplastic nasal bone, polyhydramnios, and poorly visualized lateral ventricles. Amniocentesis demonstrated a normal microarray with a negative result for cytomegalovirus and toxoplasmosis. This case study highlights the utility of prenatal sonography to identify functional abnormalities of the fetal musculoskeletal system.

Sign in / Sign up

Export Citation Format

Share Document