scholarly journals Should second-trimester hypoplastic nasal bone be sole indication for diagnostic testing with chromosomal microarray analysis?

2019 ◽  
Vol 53 (6) ◽  
pp. 848-850 ◽  
Author(s):  
E. Lostchuck ◽  
L. Hui
Keyword(s):  
Microarray Analysis ◽  
Diagnostic Testing ◽  
Nasal Bone ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Second Trimester ◽  
Hypoplastic Nasal Bone

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

2018 ◽  
Vol 46 (9) ◽  
pp. 975-982 ◽  
Author(s):  
Ron Bardin ◽  
Eran Hadar ◽  
Lylach Haizler-Cohen ◽  
Rinat Gabbay-Benziv ◽  
Israel Meizner ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Prenatal Screening ◽  
Late Onset ◽  
Normal Karyotype ◽  
Screening Tests ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Second Trimester ◽  
Ultrasound Findings ◽  
Fetal Karyotype

AbstractObjective:To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.Design:Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.Results:All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).Conclusions:Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

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 Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

scholarly journals When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

2017 ◽  
Vol 20 (1) ◽  
pp. 128-131 ◽  
Author(s):  
Idit Maya ◽  
Reuven Sharony ◽  
Shiri Yacobson ◽  
Sarit Kahana ◽  
Josepha Yeshaya ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Chromosomal Microarray Analysis and Prenatal Diagnosis

2014 ◽  
Vol 69 (10) ◽  
pp. 613-621 ◽  
Author(s):  
Jamie O. Lo ◽  
Brian L. Shaffer ◽  
Cori D. Feist ◽  
Aaron B. Caughey
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis
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