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 Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

2015 ◽  
Vol 34 (2) ◽  
pp. 112 ◽  
Author(s):  
Yanuarita Tursinawati ◽  
Serene Thain ◽  
Christina Choi ◽  
George Heong Yeo Seow
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Gestational Age ◽  
Perceived Risk ◽  
Linear Regression Analysis ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Psychological Responses ◽  
Depression Anxiety Stress Scale

Backgound <br />Invasive prenatal diagnosis (PND) through amniocentesis and chorionic villus sampling (CVS) can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome.<br /><br />Methods <br />A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21) questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p&lt;0.05).<br /><br />Results <br />More than half of the participants had normal anxiety (55.7%), stress (72.8%), depression levels (65.8%). The results revealed significantly higher level of anxiety in women with gestational age &gt;13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015).<br /><br />Conclusions <br />Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age

2008 ◽  
Vol 41 (5) ◽  
pp. 239-242 ◽  
Author(s):  
Helen Brandenburg ◽  
Coon G. Gho ◽  
Milena G. J. Jahoda ◽  
Theo Stijnen ◽  
Hans Bakker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

Effect of Chorionic Villus Sampling on Utilization of Prenatal Diagnosis in Women of Advanced Maternal Age

1992 ◽  
Vol 47 (11) ◽  
pp. 763
Author(s):  
HELEN BRANDENBURG ◽  
COEN G. GHO ◽  
MILENA G. J. JAHODA ◽  
THEO STIJNEN ◽  
HANS BAKKER ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

scholarly journals Normal Reference Range of Fetal Nuchal Translucency Thickness Among Pregnant Women of Igbo Extraction in Enugu, South-East Nigeria

2020 ◽  
Author(s):  
Charles Ugwoke Eze ◽  
Sandra Nnenna Okenwa ◽  
Everistus obinna Abonyi ◽  
Julius Amechi Agbo ◽  
Sobechukwu Warric Iwene Onwuzu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Pearson Correlation ◽  
Chorionic Villus ◽  
Nuchal Translucency ◽  
Chorionic Villus Sampling ◽  
Strong Positive Correlation ◽  
Positive Correlation ◽  
Baseline Values ◽  
The Relationship

Abstract Background: Screening of fetus for congenital anomaly has posed a great challenge to obstetricians and other caregivers even as early identification can improve the chances of getting the best possible outcome. Early fetal anomaly screening is usually done using nuchal translucency scan and other invasive procedures such Chorionic villus sampling and amniocentesis. Increase in Nuchal translucency thickness (NTT) above a certain baseline values has been found to predict fetus with anomaly. Baseline values in use are generated from Caucasian population even though these values are known to be population specific. Hence, their use on any given population may lead to errors and introduce potential misdiagnosis. Therefore, there is need for population specific baseline values of NTT.Objectives: The study is aimed at developing baseline values of NTT among apparently normal fetuses from pregnant women of Igbo ethnic group and to assess the relationship of NTT with maternal age and fetal gestational age (FGA).Methods: This cross-sectional study involved 658 pregnant women of Igbo Origin between 11-14 weeks of gestation at Esut Teaching Hospital (Parklane) Enugu from August 2017 to February 2018. Pilot study was done to determine the interobserver variation between sonographers while final NTT was calculated as mean of three separate measurements. The 5th, 50th and 95th percentiles were calculated using polynomial regression while Pearson correlation was used to determine the relationship between NTT, maternal age and FGA. Results: The NTT measurement was shown to be reliable and reproducible. Mean ± S/D NTT obtained was 0.92 ± 0.23 mm. There was a strong positive correlation between NTT measurements and FGA (r = 0.823, p < 0.001); while there was weak but positive correlation between NTT measurements and Maternal age (r = 0.055, p > 0.001). Conclusion: Nuchal translucency thickness measurement increases with increase in FGA while a baseline value of NTT among pregnant women of Igbo extraction has been generated.

FETAL NUCLEIC ACIDS IN MATERNAL PLASMA

2006 ◽  
Vol 17 (2) ◽  
pp. 125-137
Author(s):  
TRACY YH LEE ◽  
YM DENNIS LO
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Chorionic Villus ◽  
Fetal Loss ◽  
Maternal Plasma ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Noninvasive Prenatal Diagnosis ◽  
The World ◽  
Definitive Methods

Prenatal diagnosis is now an established part of modern obstetrical practice around the world. While the current definitive methods for prenatal diagnosis rely mainly on invasive procedures such as chorionic villus sampling and amniocentesis, such procedures carry a low but definite risk of fetal loss. As a consequence of the procedure-associated risk of miscarriage, prenatal diagnosis is currently limited to pregnant women with an increased likelihood of bearing an abnormal fetus. To extend the application of prenatal diagnosis to all pregnant women, it has been a long-sought goal of researchers worldwide to introduce safer methods for prenatal diagnosis, towards noninvasive prenatal diagnosis.

scholarly journals Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis

2020 ◽  
Vol 3 (1) ◽  
pp. 34-43
Author(s):  
Ana Vicic ◽  
Vedrana Skaro ◽  
Petar Projic ◽  
Petra Korac ◽  
Romana Gjergja-Juraski ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Pcr Analysis ◽  
Chorionic Villus Sampling ◽  
Tissue Samples ◽  
Conventional Cytogenetic Analysis ◽  
Diagnostic Values ◽  
Fluorescent Polymerase Chain Reaction

Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prenatal samples, chromosomal abnormalities were diagnosed in 12 cases (9%), including 10 cases of numerical chromosomal aberrations and two cases with unbalanced structural rearrangements. Nine out of 12 chromosomal abnormalities were also detected with QF-PCR. However, all cases of major aneuploidies were successfully disclosed with QF-PCR, resulting in 100% detection rate for chromosomes 21, 18, 13, X and Y. Using a set of markers specific for chromosomes 21, 18 and 13, QF-PCR analysis of tissues collected after TOP revealed chromosomopathy in 21.4% of cases (two cases of trisomy 18 and one triploidy). A comparison of STR markers confirmed monozygosity in two monochorionic/diamniotic twin pregnancies. Conclusion: QF-PCR has been shown as a rapid and reliable method for prenatal diagnosis of the most common chromosomal aneuploidies, and as an adequate alternative to conventional karyotyping in cases where cytogenetic analysis is not possible due to failure of culturing process. However, conventional cytogenetics still presents a gold standard for the detection of structural aberrations and rare aneuploidies.

PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

2018 ◽  
Vol 8 (4) ◽  
pp. 88-95
Author(s):  
Thi Ha Thi Minh ◽  
Nghia Le Trung ◽  
Nhan Nguyen Viet ◽  
Duc Vo Van ◽  
Uyen Le Thanh Nha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Maternal Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

The Relationship between Prenatal Diagnosis Indications and Abnormal Chromosomal Karyotypes: A retrospective cohort of 4646 cases in Beijing from 2012-2019

2021 ◽  
Vol 21 ◽  
Author(s):  
Xiaoting Liu ◽  
Wenling Zhang ◽  
Liwen Zhang ◽  
Ying Ma ◽  
Zhiying Gao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Chromosomal Abnormality ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Medical Center ◽  
Maternal Serum Screening ◽  
Abnormal Karyotype ◽  
Significant Difference ◽  
The Relationship

Background and Objective: Chromosomal abnormalities are genetic disorders caused by abnormal chromosome number or structure and can endanger multiple organs, morphology, and function of the systems. This study aims to investigate the relationship between prenatal diagnosis indications and abnormal karyotypes to improve prenatal screening. Methods: The karyotype analyses were carried out on 4646 pregnant women with prenatal diagnosis indications referred to the first medical center of Chinese PLA General Hospital from 2012 to 2019. The incidence, distribution, and statistical features of chromosomal abnormality of different prenatal diagnosis indications were analyzed, and the relationships with the prenatal diagnosis indications were assessed. Results: A total of 351 fetal chromosomal abnormalities were detected in 4646 karyotypes analysis, with an incidence of 7.6%. The chromosomal abnormality incidence in the single indication group, two indications group, and three indications group was respectively 5.8%, 16.1%, and 70.0%, indicating a statistically significant difference (p<0.05). Advanced maternal age (AMA), high-risk maternal serum screening (MSS), and noninvasive prenatal DNA testing (NIPT) were the important indications for predicting abnormal karyotype. The number of prenatal diagnosis indications was highly correlated with fetal chromosomal abnormalities. The overall incidence of chromosomal abnormalities showed a tendency to increase with age. The incidence of Trisomy 21 was 3.2%, accounting for 42.5% of all chromosomal abnormalities, and the incidence tended to increase with maternal age. Conclusion: Prenatal karyotype analysis of pregnant women with prenatal diagnosis indications can effectively prevent the birth of defective children. AMA, MSS and NIPT were the important indications for predicting abnormal karyotype. In addition, the number of prenatal diagnosis indications is high correlated with chromosomal abnormalities.

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