Changes in the Detection and Management of Foetal Trisomies over Time

Abstract Introduction This study investigates whether the time of diagnosis of foetal trisomy 21/18/13 and the frequency of termination of pregnancy have changed in the past 10 years. Material and Methods Retrospective study at the Tübingen University Centre for Womenʼs Health in which the cases with ante- and postnatal diagnosis of trisomy were investigated. A prerequisite was that the patients be examined in the antenatal medicine department. The time of diagnosis, the frequency of termination of pregnancy and the gestational age in the case of a termination were assessed. Results Between 2007 and 2017, trisomy 21/18/13 was diagnosed in 498 foetuses and newborns. In 311 of the foetuses or newborns, trisomy 21 was identified; in 134, trisomy 18; and in 53, trisomy 13. The median gestational age at diagnosis in the case of foetuses with trisomy 21 was between 14.4 and 13.6 weeks of pregnancy. The rate of pregnancy terminations increased slightly from 66.7% between 2007 and 2010 to 75.5% between 2015 and 2017. The median gestational age at the time of termination remained constant at 14.9 and 15.0 weeks of pregnancy respectively. The median gestational age at diagnosis in the case of foetuses with trisomy 18/13 was between 13.6 and 14.6 weeks of pregnancy during the examination period. The percentages of affected pregnancies which were terminated in the three time periods increased slightly from 57.4 to 69.0%. The gestational age remained unchanged in this case at 15.0 and 15.1 weeks of pregnancy respectively. Conclusion The time of intrauterine diagnosis of trisomy 21/18/13 has not changed in the past 10 years. The frequency of termination of a pregnancy increased slightly and the time of termination remained unchanged.

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An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21

PLoS ONE ◽

10.1371/journal.pone.0215368 ◽

2019 ◽

Vol 14 (4) ◽

pp. e0215368 ◽

Cited By ~ 3

Author(s):

Xiaohan Sun ◽

Jianbo Lu ◽

Xu Ma

Keyword(s):

Prenatal Diagnosis ◽

Efficient Method ◽

Trisomy 21 ◽

Trisomy 18 ◽

Trisomy 13 ◽

Noninvasive Prenatal Diagnosis

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

Tạp chí Phụ sản ◽

10.46755/vjog.2018.1.699 ◽

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.

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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

Tạp chí Phụ sản ◽

10.46755/vjog.2018.1.696 ◽

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.

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

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/a-0640-3148 ◽

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.

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Radiological features of the most common autosomal disorders: Trisomy 21–22 (Mongolism or Down's syndrome), trisomy 18, trisomy 13–15, and the cri du chat syndrome

Clinical Radiology ◽

10.1016/s0009-9260(71)80108-3 ◽

1971 ◽

Vol 22 (4) ◽

pp. 417-433 ◽

Cited By ~ 15

Author(s):

A. Everette James ◽

Timothy Merz ◽

Murray L. Janower ◽

John P. Dorst

Keyword(s):

Trisomy 21 ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Trisomy 18 ◽

Trisomy 13 ◽

Radiological Features ◽

Cri Du Chat Syndrome

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Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing

Clinical Chemistry ◽

10.1373/clinchem.2012.196212 ◽

2013 ◽

Vol 59 (4) ◽

pp. 705-709 ◽

Cited By ~ 9

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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Risk of Recurrence of Fetal Chromosomal Aberrations: Analysis of Trisomy 21, Trisomy 18, Trisomy 13, and 45,X in 1,076 Japanese Mothers

Journal of Obstetrics and Gynaecology Research ◽

10.1111/j.1447-0756.1999.tb01180.x ◽

1999 ◽

Vol 25 (6) ◽

pp. 373-379 ◽

Cited By ~ 24

Author(s):

Shigeki Uehara ◽

Nobuo Yaegashi ◽

Tohru Maeda ◽

Nobuhiko Hoshi ◽

Seiichiro Fujimoto ◽

...

Keyword(s):

Chromosomal Aberrations ◽

Trisomy 21 ◽

Trisomy 18 ◽

Trisomy 13 ◽

Risk Of Recurrence ◽

Japanese Mothers

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CHROMOSOME ANALYSES IN A CHILDREN'S HOSPITAL

PEDIATRICS ◽

10.1542/peds.33.3.454 ◽

1964 ◽

Vol 33 (3) ◽

pp. 454-465

Author(s):

Josef Warkany ◽

E. David Weinstein ◽

Shirley W. Soukup ◽

Jack H. Rubinstein ◽

Mary C. Curless

Keyword(s):

Trisomy 21 ◽

Congenital Malformations ◽

Normal Cell ◽

Congenital Heart ◽

Pediatric Patients ◽

Trisomy 18 ◽

Trisomy 13 ◽

Turner's Syndrome ◽

Turner’S Syndrome ◽

Cytogenetic Methods

Chromosome analyses were performed in 227 persons, most of them pediatric patients. The majority of these were selected because of mongolism, other forms of mental retardation, congenital malformations, and sex anomalies. Some normal persons were also included in the study. Most of these were relatives of the patients. Patients with Down's syndrome (mongolism) were selected because of low maternal age, familial recurrence, leukemia, and other reasons. Most of these patients had regular trisomy 21 mongolism but other cytogenetic types were also discovered and described. No trisomy 13-15 syndrome was found but there were six trisomy 18 patients. Two children with multiple congenital malformations were examined and noted to be mosaics having in addition to normal cell lines, cells with trisomy 13-15 and trisomy 18 respectively. Other patients with various congenital malformations including isolated congenital heart disease had normal cytogenetic patterns. No typical Klinefelter's syndrome was encountered in a child. Several patients with Turner's syndrome, including one "male Turner's syndrome," and several cases of male pseudohermaphroditism were described. Applications of the new cytogenetic methods and findings to clinical diagnosis and genetic prognosis were discussed.

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