scholarly journals Combined Application of Chromosome Karyotype and Microarray Analysis in Fetus With Increased Nuchal Translucency

2021 ◽  
Author(s):  
Wang Chaohong ◽  
Tang Junxiang ◽  
Sun Yuxiu ◽  
Pang Yu ◽  
Tong Keting ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Nuchal Translucency ◽  
Chromosome Abnormalities ◽  
Detection Rates ◽  
Combined Application ◽  
Chromosome Karyotype

Abstract Objective：To examine the risk of chromosomal abnormalities when the thickness of the nuchal translucency( NT ) is 2.5-2.9mm, to evaluate the cutoff value of NT for prenatal diagnosis, to explore the value of combined application of chromosome karyotype and microarray analysis, and to explore the relationship between NT ≥ 5.0mm and fetal prognosis. Methods：A total of 366 pregnant women who underwent prenatal diagnosis in Anhui Province Maternity and Child Health Hospital from January 2018 to August 2020 were collected, of which 241 cases had NT ≥ 2.5mm, 125 cases were elderly (35-38 years old) with NT < 2.5mm. We made grouping statistics on chromosome abnormalities,and compared the detection of chromosome abnormalities by karyotype and microarray analysis. At the same time, we followed up the fetuses with NT ≥ 5.0mm and analyzed their prognosis. Results: (1)Among the 366 cases with NT thickening,the detection rates of chromosome abnormalities by karyotype analysis and microarray analysis(CMA) were 13.39% (49/366) and 13.93% (51/366), respectively, and there was no significant difference (P>0.05), including 25 cases of trisomy 21, 5 cases of trisomy 18, 5 cases of Turner synthesis and 16 cases of other chromosome abnormalities. (2)We compared the effect of different NT value on the detection rate of pathogenic chromosomes, and found that the difference between NT ≥2.5mm and NT < 2.5mm was statistically significant(P<0.05). The detection rates of pathogenic chromosomal abnormalities in NT < 2.5mm group,2.5-2.9mm group, 3.0-3.4mm group,3.5-4.4mm group,4.5-5.4mm group and NT ≥ 5.5mm group were 0.8%(1/ 125), 11.63%(10/ 86), 17.81%(13/ 73), 20%(10/ 49), 47.62%(10/ 21) and 63.64%(7/ 11) respectively. (3)Our study found that different prenatal diagnostic indicators for abnormal chromosome detection rate difference was statistically significant(P<0.05). The detection rates of NT thickening alone and NT thickening combined with other abnormalities were 13.17%(22/ 167) and 35.14%(26/ 74) respectively(P<0.05). (4)Among 18 pregnant women with NT ≥ 5.0 mm, 9 fetuses were chromosomal abnormalities, and 9 fetuses survived healthily. Conclusions：When the NT value is 2.5-2.9mm, the incidence of fetal chromosome abnormality is significantly higher than that in the normal group. It is suggested that invasive prenatal diagnosis should be performed for pregnant women with NT ≥ 2.5mm. Chromosome karyotype analysis and CMA can complement each other, which is conducive to prenatal genetic counseling. The fetuses with NT thickening usually have good pregnancy outcomes when excluding fetal chromosome and prenatal ultrasound does not indicate any abnormalities.

scholarly journals The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu'e Chen ◽  
Yingjun Xie ◽  
Yuying Jiang ◽  
Qi Luo ◽  
Lijing Shi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

scholarly journals Application of Chromosome Microarray Analysis and Karyotype Analysis in Diagnostic Assessment of Abnormal Down's Syndrome Screening Results

2021 ◽  
Author(s):  
Han Kang ◽  
Lingxi Wang ◽  
Xingyu Li ◽  
Chonglan Gao ◽  
Yamei Xie ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation

Abstract Background: Although screening for fetal aneuploidy with the use of cell-free DNA obtained from maternal plasma is highly effective, biomarkers screening is in extensive use in economically underdeveloped areas and poor population. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotype analysis in prenatal diagnosis for pregnant women with abnormal Down’s syndrome (DS) screening results.Methods: The study recruited 813 pregnant women with abnormal DS screening results from Chengdu Women’s and Children’s Central Hospital. They underwent amniocentesis to obtain fetal amniotic fluid for CMA and G-band karyotype analysis. An Affymetrix CytoScan 750 K Array chip was used for CMA analysis according to the manufacturer’s instructions.Results: In total, CMA identified 21/813 abnormal results, which was more efficient than karyotype analysis(10/813, P<0.001.) CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies. However, CMA identified 1.60% more copy number variants(CNVs) than karyotype analysis. These pathogenic/likely pathogenic(P/LP) CNVs ranged from 159Kb deletion to 3616Kb deletion. 53.8% of them were recurrent pathogenic CNVs associated with risk of neurodevelopmental disorders. CMA identified 7 variants of uncertain significance (VUS) results, including 6 microduplication and 1 microdeletion, with the size ranged from 840kb-1484kb. Karyotype analysis identified 2 mosaic sex chromosome aneuploidy, 2 balanced translocation and 1 mosaic balanced translocation, which could not be identified by CMA. Conclusions: Performing both CMA and karyotype analysis simultaneously is more beneficial to pregnant women with abnormal DS screening results.

scholarly journals Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 Cases

2021 ◽  
Author(s):  
Jin HAN ◽  
YanJun Huang ◽  
Bing Ji ◽  
Zequn liu ◽  
Shuzheng Xu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Microarray Analysis ◽  
Karyotype Analysis ◽  
Single Gene ◽  
Detection Methods ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
Chromosome Karyotype

Abstract Background Prenatal diagnosis of fetal hyperechogenic kidney poses a challenge. The aim of this study was to investigate the genetic reasons and prognosis of fetal hyperechogenic kidney diagnosed on prenatal ultrasonography. Methods We retrospectively reviewed the clinical data of 80 cases of prenatally diagnosed fetal hyperechogenic kidney by the obstetric ultrasound. The genetic characteristics and pregnancy outcomes were analyzed using chromosome karyotype analysis, chromosome microarray analysis, and whole-exome sequencing. Results Of the 80 cases, 48 (60%) were those of isolated fetal hyperechogenic kidney and 32 (40%) were those of non-isolated cases, including 4 cases (5%) of urinary system abnormalities, 7 (8.75%) of central nervous system abnormalities, 5 (6.25%) of cardiac abnormalities, and 16 (20%) of multiple abnormalities. Chromosome karyotype analysis and microarray analysis revealed 17 (21.25%) abnormalities, including isolated fetal hyperechogenic kidney (9, 11.25%) and chromosome microdeletion microduplication (17q12 microdeletion syndrome, Williams-Beuren syndrome, 4p16.3-p16.1 microduplication syndrome) (8, 10%). Moreover, 9 patients had single gene mutations, including those of BBS2, BBS7, HNF1B, ACE, CEP290, COL4A5, and PKHD1. Total 48 pregnancies were terminated (57.3%), and the remaining 32 fetuses survived and grew normally, the neonatal renal function tests were normal. Conclusions Fetal hyperechogenic kidney chromosome abnormalities are common, in particular, there is considerable prevalence of isolated fetal hyperechogenic kidney. Therefore, advances in prenatal diagnosis are crucial, if necessary, with the combined use of whole-exome sequencing and other comprehensive detection methods.

Efficacy of copy-number variation sequencing technology in prenatal diagnosis

2019 ◽  
Vol 47 (6) ◽  
pp. 651-655 ◽  
Author(s):  
Xiaoxi Zhao ◽  
Lin Fu
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Balanced Translocation ◽  
Combined Application ◽  
Number Variation ◽  
Medical University

Abstract Background Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

scholarly journals The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

2021 ◽  
Author(s):  
Meiying Cai ◽  
Na Lin ◽  
Xuemei Chen ◽  
Ying Li ◽  
Min Lin ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Southern China ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Detection Rates ◽  
Non Invasive ◽  
Large Multicentre Study

Abstract Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

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