scholarly journals Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

2018 ◽  
Vol 24 (1) ◽  
pp. 15
Author(s):  
M.Sinan Beksac ◽  
Hayat Yurter ◽  
Atakan Tanacan ◽  
Burcu Soyak ◽  
Gokcen Orgul ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Pregnant Women ◽  
Muscular Atrophy ◽  
Prenatal Testing

scholarly journals Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

2020 ◽  
Vol 22 (6) ◽  
pp. 817-822
Author(s):  
Jingjing Zhang ◽  
Yuguo Wang ◽  
Dingyuan Ma ◽  
Yun Sun ◽  
Yahong Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Pregnant Women ◽  
Muscular Atrophy ◽  
Carrier Screening

scholarly journals Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yunsheng Ge ◽  
Jia Li ◽  
Jianlong Zhuang ◽  
Jian Zhang ◽  
Yanru Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Copy Number ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Predictive Values ◽  
Parental Willingness

Abstract Background Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. Methods A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children’s Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Results Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38–100%), 96.67%(95%CI, 82.78–99.92%), and 100%(95%CI, 66.37–100.00%), and the specificity was 99.92%(95%CI, 99.87–99.96%), 99.96%(95%CI, 99.91–99.98%), and 99.88% (95%CI, 99.82–99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Conclusions Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

1994 ◽  
Vol 14 (6) ◽  
pp. 459-462 ◽  
Author(s):  
S. Lo Cicero ◽  
F. Capon ◽  
S. Melchionda ◽  
M. Gennarelli ◽  
G. Novelli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Microsatellite Markers ◽  
Muscular Atrophy ◽  
First Trimester

scholarly journals Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women

2019 ◽  
Vol 7 (14) ◽  
pp. 319-319 ◽  
Author(s):  
Jing Wang ◽  
Zhi-Wei Wang ◽  
Qin Zhou ◽  
Bin Zhang ◽  
Ting Yin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Testing ◽  
Non Invasive

Prenatal diagnosis of spinal muscular atrophy: Indian scenario

2005 ◽  
Vol 25 (8) ◽  
pp. 641-644 ◽  
Author(s):  
Akanchha Kesari ◽  
Hanna Rennert ◽  
Debra G. B. Leonard ◽  
Shubha R. Phadke ◽  
Balraj Mittal
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Indian Scenario

scholarly journals Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

2020 ◽  
Author(s):  
Yingjie Sun ◽  
Xiangdong Kong ◽  
Zhenhua Zhao ◽  
Xuechao Zhao
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Homozygous Deletion ◽  
Common Mutation ◽  
Type I ◽  
Copy Numbers ◽  
Smn2 Gene ◽  
The Impact

Abstract Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for treatment. Our goal was to detect genetic mutations in SMA patients in China and to show the results of the prenatal diagnosis of SMA.Methods In this study, we examined 419 patients in our hospital from January 2010 to September 2019. Multiplex ligation-dependent probe amplification analysis was used to determine the copy numbers of SMN1 and SMN2. Long-range PCR combined with nested PCR was used to detect point mutations in SMN1. In addition to the above detection methods, we also used QF-PCR in prenatal diagnosis to reduce the impact of maternal contamination. We conducted a total of 339 prenatal diagnoses from January 2010 to September 2019.Results Homozygous deletion of SMN1 exon 7 was detected in 96.40% (404/419) of patients. Homozygous deletion of SMN1 exon 7 alone was detected in 15 patients (3.60%). In total, 10 point mutations were detected in the 15 pedigrees. Most patients with SMA Type I have 1~2 copies of the SMN2 gene. Patients with SMA Type II have 2 or 3 copies of the SMN2 gene. The results of prenatal diagnoses showed that 118 fetuses were normal, 149 fetuses were carriers of heterozygous variants, and the remaining 72 fetuses harbored compound heterozygous variants or homozygous variants. Conclusions Our study found that the most common mutation in SMA was homozygous deletion of SMN1 exon 7 in our study. We suggest that detecting only the deletion of exon 7 of SMN1 can meet most of the screening needs. We also believe that SMN2 copy numbers can help infer the disease classification and provide some reference for future treatment options.

Prenatal diagnosis of spinal amyotrophy

2020 ◽  
Author(s):  
E.À. Vinokurova, E.E. Sergovantceva
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Survival Motor Neuron ◽  
Homozygous State ◽  
Dna Diagnosis ◽  
Present Pregnancy

The first regional case of pregnancy management in a patient with a child with spinal muscular atrophy is presented. In the present pregnancy for the purpose of prenatal diagnosis of spinal amyotrophy at 12 weeks transabdominal aspiration of chorion villi was performed, followed by molecular genetic research, which revealed the deletion of exons 7–8 of the SMN 1 gene (survival motor neuron) in the homozygous state. Due to the unfavorable prognosis abortion was performed for medical reasons. Thus, to reduce the risk of having a child with spinal muscular atrophy in families with identified mutations in the SMN 1 gene, prenatal DNA diagnosis of this hereditary pathology is recommended.

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