scholarly journals Prevalence of common aneuploidy in twin pregnancies

2022 ◽  
Author(s):  
Akiko Konishi ◽  
Osamu Samura ◽  
Jin Muromoto ◽  
Yoko Okamoto ◽  
Hironori Takahashi ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Twin Pregnancies

AbstractThe incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04–0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.

The BS/BSOB Ratio in Aneuploidy Fetuses at 11-13 Weeks Gestation

2015 ◽  
Vol 37 (4) ◽  
pp. 321-326 ◽  
Author(s):  
Ching Hua Hsiao ◽  
Po Jen Cheng ◽  
S.W. Steven Shaw ◽  
Yin Jiun Tseng ◽  
Ran Chou Chen ◽  
...  
Keyword(s):  
Brain Stem ◽  
Posterior Fossa ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Normal Population ◽  
Fetal Brain ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Crown Rump Length ◽  
Monosomy X

Objective: The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. Methods: In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were measured prospectively. The BS and BSOB were also measured on stored images in fetuses with confirmed trisomy 21 (n = 38), Trisomy 18 (n = 26), Trisomy 13 (n = 8), and monosomy X (n = 8). Results: The BS diameter and BSOB distance correlated linearly with fetal crown-rump length (CRL) by regression analysis. The BS to BSOB ratio was below the 5th percentile in 2 (5.26%), 11 (44%), 4 (50%) and 4 (50%) fetuses with trisomy 21, trisomy 18, trisomy 13 and monosomy X, respectively. Thus, both BS and BS/BSOB ratio were significantly lower in trisomy 18, trisomy 13 and monosomy X fetuses when compared to the reference range but not in fetuses with Trisomy 21. Conclusion: In ultrasound scans performed at the 11-13+6 gestation weeks, fetuses with trisomy 18, 13, and monosomy X had lower BS/BSOB ratios. But trisomy 21 fetuses did not show significant differences in posterior fossa compared to the normal population.

scholarly journals Instrument-Dependent or Instrument-Independent Indications and Prevalence of Chromosomal Abnormalities by Amniocentesis in China: An Analysis of 4146 Cases of Amniocentesis

1970 ◽  
Vol 2 (2) ◽  
Author(s):  
Hongbin Zhang
Keyword(s):  
Birth Defects ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Care Service ◽  
Trisomy 18 ◽  
Intrauterine Fetal Death ◽  
Maternal Serum Screening ◽  
Autosomal Aneuploidy ◽  
History Of

 Objective: There is a high incidence of birth defects in China, and prenatal diagnosis is an important method of intervention. This study aims to describe the clinical indications and cytogenetic results of amniocentesis cases in central China.Methods: We retrospectively reviewed cases at the Maternal and Child Care Service Centre in Henan Province from January 2012 to December 2014. A total of 4497 at-risk mothers (risk factors: advanced maternal age, history of intrauterine fetal death or aborted fetuses, chromosomal abnormality in one of the parents, high-risk maternal serum screening results, and abnormal ultrasonographic findings in the first or second trimester) were recruited for amniocentesis (AS). The subjects included were between 11–14 and 18–22 weeks of gestation. All cases were divided into two groups based on instrument-independent or instrument-dependent indications. Results: A total of 4146 cases were analyzed. Of these, chromosomal abnormalities were detected in 232 cases (5.6%), and autosomal aneuploidy, including trisomy 21 and trisomy 18, was found to be the most common (55.7%) chromosomal abnormality. The mean age of 29.94 years was not expected as all mothers older than 35 years old were routinely offered amniocentesis at the time of the study. Amniocentesis was carried out in 1711 cases because of instrument-independent indications, and 285 of these cases were diagnosed with chromosomal abnormality. In 2376 cases, amniocentesis was conducted because of instrument-dependent indications, and 176 of these were diagnosed with chromosomal abnormality. Thus, 5.6% of the cases were diagnosed with chromosomal abnormalities, and autosomal aneuploidy, including trisomy 21 and trisomy 18, were the most common chromosomal abnormalities detected in the present study. Conclusion: Our result indicated the significance of instrument-independent indications in the screening of chromosomal abnormalities, especially in developing areas. Birth defects may be reduced by paying more attention to the patients’ history of medication.

scholarly journals Analysis of clinikal and morphological features of missed abortions, associated with chromosomal abnormalities of the chorion

2019 ◽  
Vol 21 (2) ◽  
pp. 13-17
Author(s):  
O A Romanova ◽  
V A Pechenikova ◽  
T S Kartashova ◽  
A S Klyukovkina ◽  
V N Ellinidi
Keyword(s):  
Early Pregnancy ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Trisomy 13 ◽  
Missed Abortion ◽  
Chorionic Villi ◽  
Trisomy 16 ◽  
Saint Petersburg

Nowadays the problem of recurrent miscarriage is relevant. 17-20% of all registered pregnancies end with inevitable miscarriages. 80% of them are early pregnancies and in most cases represent missed abortions. Besides, one of the leading cause of missed abortion are chromosomal abnormalities. Analyzed the clinical and anamnestic data of patients, diagnosed with missed abortion during early pregnancy, examined in Saint-Petersburg in 2005-2006 and 2015-2017: patients with normal chorion karyotype and patients with chromosomal abnormalities of the chorion. Revealed that the prevailing chromosomal abnormality is aneuploidy, among all types of aneuploidy the most frequently are trisomy 16, trisomy 13, trisomy 22 and trisomy 21. The structure of aneuploidy has changed in 10-11 years. Now, in comparison with 2005-2006, at missed abortion the trisomy 16 in chorionic villi is found 3.8 times more often, the trisomy 13 is found 2.8 times more often and the trisomy 22 is found twice less often (p

Autosomal Trisomies: What Neonatal Nurses Need to Know

1999 ◽  
Vol 18 (8) ◽  
pp. 7-15 ◽  
Author(s):  
Ann Cox
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Trisomy 13 ◽  
Neonatal Nurses ◽  
Patau Syndrome ◽  
Edwards Syndrome ◽  
Major Congenital Malformations ◽  
Associated Abnormalities

Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). More detailed description of the manifestations, associated abnormalities, and outcomes of the most common of these, trisomy 21, is provided.

Bất thường nhiễm sắc thể trên thai nhi dị tật tim bẩm sinh

2018 ◽  
Vol 16 (1) ◽  
pp. 52-57
Author(s):  
Hai Nam Bui ◽  
Danh Cuong Tran
Keyword(s):  
Trisomy 21 ◽  
Trisomy 18 ◽  
Trisomy 13

Bệnh tim bẩm sinh (BTBS) là những bất thường trong cấu trúc tim và các mạch máu lớn xuất hiện trong khi mang thai ở tháng thứ 2 – 3 của thai kỳ. Có tỷ lệ 4 – 14/1000 trẻ đẻ ra sống. BTBS thai nhi có thể chẩn đoán trước sinh bằng siêu âm một cách chính xác. Một số BTBS có kèm theo bất thường nhiễm sắc thể (NST). Do vậy việc kết hợp xét nghiệm sàng lọc và các xét nghiệm di truyền để phát hiện sớm các bất thường NST. Mục tiêu: Mô tả đặc điểm bất thường nhiễm sắc thể ở thai nhi có dị tật tim bẩm sinh. Đối tượng và phương pháp nhiên cứu: Thực hiện ở 92 thai phụ có thai nhi bị bất thường tim, được chọc hút dịch ối làm xét nghiệm NST đồ. Kết quả nghiên cứu: Tỷ lệ BTBS thường gặp trong nghiên cứu là thông liên thất (39,1%), tứ chứng Fallot (26,1%), bệnh ống nhĩ thất (10,9%). Tỷ lệ bất thường NST ở những trường hợp BTBS là 29/92 (31,5%). Trong đó bất thường số lượng NST 25/29 (86,2%) vớitrisomy 18 là 12/29 (41,4%), trisomy 21 là 8/29(27,6%), trisomy 13 là 3/29 (10,34%); Bất thường cấu trúc NST có 4 trường hợp trong đó 2 trường hợp vi mất đoạn 22q11.2 (hội chứng DiGeorge). Kết luận: BTBS có mối liên quan với bất thường NST, các bất thường hay gặp trisomy 13, trisomy 18, trisomy 21 và hội chứng DiGeorge.

Ứng dụng kỹ thuật BoBs để phát hiện một số hội chứng mất đoạn nhỏ và lệch bội nhiễm sắc thể thai trong chẩn đoán thai nhi có siêu âm bất thường hệ tim mạch

2018 ◽  
Vol 16 (1) ◽  
Author(s):  
Thi Ngoc Lan Hoang ◽  
Danh Cuong Tran ◽  
Duc Thang Bui ◽  
Phuong Thao Le
Keyword(s):  
Trisomy 21 ◽  
Trisomy 18 ◽  
Trisomy 13

Mục tiêu: Đánh giá giá trị kỹ thuật BoBs trong phát hiện một số hội chứng mất đoạn nhỏ và lệch bội nhiễm sắc thể của thai có siêu âm bất thường hệ tim mạch. Đối tượng và phương pháp nghiên cứu: 100 mẫu dịch ối của các thai phụ có thai ≥ 16 tuần và thai có hình ảnh siêu âm bất thường hệ tim mạch được xét nghiệm bằng kỹ thuật BoBs và xét nghiệm nhiễm sắc thể (NST). Kết quả: Phát hiện 28/100 thai có bất thường NST trong đó 8 trường hợp liên quan với vi mất đoạn hoặc nhân đoạn nhỏ NST chỉ được phát hiện bằng kỹ thuật BoBs (5 DiGeorge, 1 Cri-du-chat, 1 Prader Willi/ Anggelman, 1 trisomy 1phần NST 18 (q22.1q22.2) và 20 trường hợp lệch bội NST được phát hiện cả bằng BoBs và xét nghiệm NST thường quy gồm 10 trường hợp Trisomy 21, 9 trisomy 18, 1 trisomy 13. 4/5 thai DiGeorge có tứ chứng Fallot, còn 1 DiGeorge, 1 Prader Willi/Anggelman và 1 nhân đoạn nhỏ NST 18 (q22.1q22.2) có thông liên thất, 1 Cri-duchat có bất thường hệ thống mạch máu. Kết luận: Với các thai có bất thường hệ tim mạch nên sử dụng đồng thời cả 2 kỹ thuật (karyotype và kỹ thuật BoBs) để tăng tỷ lệ phát hiện các bất thường NST đặc biệt các vi mất đoạn NST hay nhân đoạn nhỏ NST và giúp chẩn đoán nhanh, chính xác và tránh bỏ sót nhiều trường hợp bất thường.

The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities

2018 ◽  
Vol 40 (06) ◽  
pp. 743-748
Author(s):  
Ismail Tekesin
Keyword(s):  
Turner Syndrome ◽  
Trisomy 21 ◽  
Detection Rate ◽  
First Trimester ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Ultrasound Screening ◽  
Crown Rump Length ◽  
First Trimester Ultrasound

Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out. Performance of these markers was assessed by logistic regression and ROC analyses for different screening models. Results 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70–100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 % with trisomy 21 had at least one fetal defect. Considering all aneuploidies, the detection rate (DR) for screening based on MA+NT+NB+TV+DV was 90.6 % and improved to 96.0 % if an FA was added (fixed false-positive rate: 3 %). If screening was based on MA+NT+FA, the detection rate for all aneuploidies was 85.2 %. However, the DR for trisomy 18, trisomy 13, triploidy and Turner syndrome (excluding trisomy 21) was 94.6 %, indicating the high diagnostic value of an anomaly scan for these aneuploidies. Conclusion Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome.

scholarly journals Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing

2013 ◽  
Vol 59 (4) ◽  
pp. 705-709 ◽  
Author(s):  
Jessica ME van den Oever ◽  
Sahila Balkassmi ◽  
Lennart F Johansson ◽  
Phebe N Adama van Scheltema ◽  
Ron F Suijkerbuijk ◽  
...  
Keyword(s):  
Single Molecule ◽  
Trisomy 21 ◽  
Maternal Plasma ◽  
Trisomy 18 ◽  
Diagnostic Sensitivity ◽  
Trisomy 13 ◽  
Noninvasive Detection ◽  
Single Molecule Sequencing ◽  
Gc Bias ◽  
Diagnostic Sensitivity And Specificity

BACKGROUND Noninvasive trisomy 21 detection performed by use of massively parallel sequencing is achievable with high diagnostic sensitivity and low false-positive rates. Detection of fetal trisomy 18 and 13 has been reported as well but seems to be less accurate with the use of this approach. The reduced accuracy can be explained by PCR-introduced guanine-cytosine (GC) bias influencing sequencing data. Previously, we demonstrated that sequence data generated by single molecule sequencing show virtually no GC bias and result in a more pronounced noninvasive detection of fetal trisomy 21. In this study, single molecule sequencing was used for noninvasive detection of trisomy 18 and 13. METHODS Single molecule sequencing was performed on the Helicos platform with free DNA isolated from maternal plasma from 11 weeks of gestation onward (n = 17). Relative sequence tag density ratios were calculated against male control plasma samples and results were compared to those of previous karyotyping. RESULTS All trisomy 18 fetuses were identified correctly with a diagnostic sensitivity and specificity of 100%. However, low diagnostic sensitivity and specificity were observed for fetal trisomy 13 detection. CONCLUSIONS We successfully applied single molecule sequencing in combination with relative sequence tag density calculations for noninvasive trisomy 18 detection using free DNA from maternal plasma. However, noninvasive trisomy 13 detection was not accurate and seemed to be influenced by more than just GC content.

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