scholarly journals Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sarang Younesi ◽  
Mohammad Mahdi Taheri Amin ◽  
Sedigheh Hantoushzadeh ◽  
Pourandokht Saadati ◽  
Soudabeh Jamali ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Previous History ◽  
Normal Karyotype ◽  
Advanced Maternal Age ◽  
Second Trimester Screening ◽  
Amniotic Fluid Cells ◽  
Β Hcg

AbstractThe aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward’s syndrome, abnormal mosaicisms and Patau’s syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.

scholarly journals Extended embryo culture is effective for patients of an advanced maternal age

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
R. Sainte-Rose ◽  
C. Petit ◽  
L. Dijols ◽  
C. Frapsauce ◽  
F. Guerif
Keyword(s):  
Live Birth ◽  
Embryo Culture ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Inner Cell Mass ◽  
Cell Mass ◽  
Advanced Maternal Age ◽  
Birth Rates ◽  
Younger Women ◽  
Live Birth Rates

AbstractThe aim of this study was to determine the effectiveness of extended embryo culture in advanced maternal age (AMA) patients (37–43 years). In this retrospective analysis, 21,301 normally fertilized zygotes from 4952 couples were cultured until the blastocyst stage. Blastocyst development, including kinetics and morphology, transfer rate, implantation and live birth rates, were measured. In AMA patients, the blastocyst rate was significantly decreased as compared to that in younger women. On day 5, blastocysts underwent growth retardation in AMA patients, which was highlighted by a decreased rate of full/expanded blastocysts. Organization of the cells (trophectoderm and inner cell mass) was unaffected by age. However, in AMA patients, a ‘good’ morphology blastocyst had a decreased probability to implant compared with an ‘average’ morphology blastocyst in younger women. While the rates of blastocyst transfer and useful blastocysts were similar to younger patients, in AMA patients, both implantation and live birth rates were significantly reduced. Our results support the idea that extended embryo culture is not harmful for AMA patients. However, embryo selection allowed by such culture is not powerful enough to avoid chromosomal abnormalities in the developed blastocysts and therefore cannot compensate for the effect of a woman’s age.

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Ping Chen ◽  
Yong-Feng Lai ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Age Groups ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Increase Risk ◽  
Singleton Pregnancies

Abstract Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased exponentially with the maternal age. These risks in the advanced maternal age (AMA) group are uncertain. This study aimed to determine the incidence of ARSA in Chinese AMA and non-AMA women and the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods This retrospective study included 13,690 singleton pregnancies, were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening, and fetal karyotype analysis were analyzed. Results The overall incidence of ARSA was 0.69%, with no difference between age groups. The incidence of chromosomal abnormalities in the AMA group (37 / 2860) was much higher than that of the non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. With combined ARSA and AMA, the likelihood of the incidence of chromosomal abnormalities increased. Chimerism (45X / 46XX) was found with isolated ARSA in AMA pregnancies. Conclusion There is a high prevalence of chromosomal abnormalities in fetuses of AMA women. ARSA increases the risk of chromosomal abnormalities in both age groups, especially combined with ARSA. When ARSA occurs in AMA women, it confers a high likelihood of chromosomal abnormalities.

Impact of sperm genome decay on Day-3 embryo chromosomal abnormalities from advanced-maternal-age patients

2015 ◽  
Vol 82 (10) ◽  
pp. 809-819 ◽  
Author(s):  
Ismail Kaarouch ◽  
Nouzha Bouamoud ◽  
Noureddine Louanjli ◽  
Aicha Madkour ◽  
Henri Copin ◽  
...  
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Genome Decay ◽  
Day 3 Embryo

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosomal in women of advanced maternal age

2019 ◽  
Author(s):  
Jian-Hong You ◽  
Li-Ping Chen ◽  
Xiao-Hong Zhong ◽  
Jiang-Hua Chen ◽  
Jing-Xian Xie ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Singleton Pregnancies ◽  
Fetal Karyotype

Abstract Background: In entire population, aberrant right subclavian artery ( ARSA ) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. While, the situation in advanced maternal age ( AMA ) group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed. Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both groups. 2. The prevalence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With ARSA detected, the incidence increased to 20.00 % and 10.00 % in AMA and non-AMA cases, respectively. 4. Additionally, a case with chimeric Turner syndrome ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy. Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. Both isolated and nonisolated ARSA would increase the risk of chromosomal abnormalities. Moreover, when ARSA is found in AMA ones, it confers a sharp increase in the incidence of chromosomal abnormalities.

scholarly journals Triple marker screening for fetal chromosomal abnormalities in Korean women of advanced maternal age

2001 ◽  
Vol 42 (2) ◽  
pp. 199 ◽  
Author(s):  
Sei Kwang Kim ◽  
Sang Wook Bai ◽  
Jae Eun Chung ◽  
Young Nae Jung ◽  
Ki Hyun Park ◽  
...  
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Korean Women

scholarly journals Ovulation suppression protects against chromosomal abnormalities in mouse eggs at advanced maternal age

2021 ◽  
Author(s):  
Emmanouella E. Chatzidaki ◽  
Sean Powell ◽  
Bart J.H. Dequeker ◽  
Johanna Gassler ◽  
Mariana C.C. Silva ◽  
...  
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Mouse Eggs

scholarly journals Predictive value of aberrant right subclavian artery for fetal Chromosome aneuploidy in women of advanced maternal age

2020 ◽  
Author(s):  
Li-Ping Chen ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
Jing-Xian Xie ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Age Groups ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Singleton Pregnancies ◽  
Fetal Karyotype

Abstract Background: In entire population, aberrant right subclavian artery ( ARSA) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. This situation in advanced maternal age ( AMA )group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA.Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed.Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both age groups. 2. The incidence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With combined ARSA detected in AMA ones, the lilelihood of the incidence of chromosomal abnormalities increased. 4. Additionally, a case with chimeric ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy.Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. ARSA would increase the risk of chromosomal abnormalities in both age groups, especially combined ARSA. Moreover, when combined ARSA is found in AMA ones, it confers a high likelihood of chromosomal abnormalities.

scholarly journals Maternal age-specific rates of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age

2013 ◽  
Vol 56 (3) ◽  
pp. 160 ◽  
Author(s):  
Young Joo Kim ◽  
Jee Eun Lee ◽  
Soo Hyun Kim ◽  
Sung Shin Shim ◽  
Dong Hyun Cha
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age
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