scholarly journals Large Intra-Age Group Variation in Chromosome Abnormalities in Human Blastocysts

DNA ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 91-104
Author(s):  
Sarthak Sawarkar ◽  
Darren K. Griffin ◽  
Lia Ribustello ◽  
Santiago Munné

Research Question: Is maternal age only a gross predictor of chromosome abnormalities in human embryos? Design: Here, we evaluated the less-studied variation in chromosome abnormality rates in embryos of patients within the same age group. Patients undergoing IVF and PGD for chromosomal abnormalities in ~127 different IVF clinics were included. PGT-A analysis was performed by a single reference laboratory using array CGH or NGS. To get an estimate of the range of abnormalities observed, the aCGH and NGS data were studied both independently and together. Results: The overall results showed the typical increase in aneuploidy rates with advancing maternal age (AMA) but extensive variability within each age group. Conclusions: Increasing aneuploidy with maternal age has been demonstrated in live births, unborn fetuses, IVF embryos and oocytes. In contrast, post-meiotic and other abnormalities that might lead to mosaicism, polyploidy and haploidy, are commonplace (around 30%), regardless of maternal age. Here we conclude that age is only a gross predictor of chromosome abnormalities in IVF embryos. In contrast to the existing standard of offering PGT-A to AMA patients, the high rate and extreme variation of chromosomal abnormalities in human embryos may warrant PGT-A for further IVF cycles even in younger age groups, especially if a history of increased levels of aneuploidy is evident. Furthermore, better indicators are needed to determine which patients are at a higher risk of producing increased levels of aneuploid embryos.

Down’s syndrome is the most common autosomal aberration and single cause of mental retardation in man. There is a close relation between advanced maternal age and Down’s syndrome. The limitation of family size has made a considerable impact on the incidence of Down’s syndrome. In Denmark in the 1950s, 50% of Down’s syndrome cases were born to mothers over the age of 35. The percentage went down to 25% in the 1970s and was reduced by prenatal diagnosis to 8 % in the 1980s. For the period 1980-85 we followed the birth prevalence closely for the different maternal age groups. The birth prevalence was lowered for the age group over 35, but there was a steady rise for the age groups below 35. Early diagnosis, high rate of survival of light-for-date babies and babies with congenital heart defect, and, possibly, exogenous factors working on gametogenesis might be an explanation. To achieve a reduction in incidence, maternal x-fetoprotein (AFP)-serum screening for low values may be a possibility. So far, avoidance, but not primary prevention, of Down’s syndrome is available.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Ping Chen ◽  
Yong-Feng Lai ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
...  

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.


2000 ◽  
Vol 124 (3) ◽  
pp. 441-447 ◽  
Author(s):  
J. SARANGI ◽  
K. CARTWRIGHT ◽  
J. STUART ◽  
S. BROOKES ◽  
R. MORRIS ◽  
...  

We reviewed retrospectively all invasive Haemophilus influenzae (Hi) infections in adults ascertained from reference laboratory records and notifications from five NHS regions over the 5 years from 1 October 1990, a period encompassing the introduction of routine Hib childhood immunization (October 1992). A total of 446 cases were identified, a rate of 0·73 infections per 105 adults per annum. Though numbers of Hib infections in adults fell after the introduction of Hib vaccines for children (P = 0·035), and there was no increase in infections caused by other capsulated Hi serotypes, total numbers of invasive Hi infections increased due to a large rise in infections caused by non-capsulated Hi (ncHi) strains (P = 0·0067). There was an unexpectedly low rate of infections in those aged 75 years or more (P < 0·0001). The commonest clinical presentations were pneumonia with bacteraemia (227/350, 65%) and bacteraemia alone (62/350, 18%) and the highest rates of disease were in the 65–74 years age group (P < 0·0001). Clinical presentation was not influenced by the capsulation status of the invading Hi strain. 103/350 cases (29%) died within 1 month, and 207/350 (59%) within 6 months of their Hi infection. Case fatality rates were high in all age groups. Pre-existing diseases were noted in 220/350 cases and were associated with a higher case fatality rate (82% vs. 21%, P < 0·0001). After the introduction of Hib immunization in children, invasive Hib infections in unimmunized adults also declined, but the overall rate of invasive Hi disease in adults increased, with most infections now caused by non-capsulated strains. Physicians and microbiologists should be aware of the changing epidemiology, the high associated mortality and high risk of underlying disease. Invasive haemophilus infections in adults should be investigated and treated aggressively.


2007 ◽  
Vol 10 (4) ◽  
pp. 633-637 ◽  
Author(s):  
Jian-Ping Gan ◽  
Zhong-Hua Wu ◽  
Zhi-Ming Tu ◽  
Jian Zheng

AbstractBased on the birth record data from the National Vital Statistics in the 1990 Census of China, the present study analyzed the differences between urban and rural areas on monozygotic (MZ) and dizygotic (DZ) twin rates by maternal age in 1989. The twins by zygosity were calculated with Weinberg's differential method. Results show that the MZ and DZ twinning rates in China were associated with maternal age and that there were substantial differences between urban and rural areas. The MZ twinning rates in urban and rural areas were 2.36 pairs and 2.11 pairs per 1000 deliveries respectively, significantly lower than that in most studied populations. Furthermore, our analysis indicated that MZ twinning rates remained relatively constant for mothers under the age group of 36 to 38 years, but rose over this age group in both areas, albeit with a different slope. The DZ twinning rates were strikingly affected by maternal age, but the age for peak DZ rates was found within the age group of 33 to 35 years. In all maternal age groups except for 24 to 26 years, the DZ twinning rates in urban areas were higher than in rural areas. It remains unclear as to why the DZ twinning rates reversed to reach higher values within the older maternal age groups in China, but it is almost certain that the high twinning rates had nothing to do with in vitro fertilization.


Twin Research ◽  
2001 ◽  
Vol 4 (1) ◽  
pp. 1-3
Author(s):  
Isaac Blickstein ◽  
Ran D. Goldman ◽  
Ram Mazkereth

AbstractIn order to examine birth weight characteristics of twins delivered to nulliparous mothers in relation to maternal age, we used a population-based cohort of Israeli twins delivered between 1993–98 to select all 4793 (37.6%) nulliparas who delivered twins. Maternal age was subdivided as less than 20 years, 20–24, 25–29, 30–34, 35–39, and 40 years or more. We counted the frequencies of each total twin birth weight (twin A+twin B) in each of three categories (less than 3000, 3000–4999, and more than 5000 g) and the frequency of very low birth weight (VLBW, less than 1500 g) neonates in each of the six maternal age categories. There were significantly more nulliparas in the twin population at age groups less 30 years and significantly less at ages 30 years or more. We found a highly significant inverse correlation between the proportion of nulliparas and maternal age group, decreasing from 71.8% at less than 20 years to 18.6% at age 35–39 years (% nulliparas = 85 − 13.7 × age group, Pearson R2 = 0.98). However, this trend changed abruptly to the observed figure of 25.9% nulliparas aged 40 years or more instead of the expected 2.8%. We failed to reveal any significant difference in birth weight characteristics between the maternal age groups (all p > 0.05, all confidence intervals included 1.0). The more than tenfold deviation of the observed from the predicted frequency of nulliparas aged 40 years or more suggests that a different relationship between parity and age occurs at this age group. Maternal age of nulliparas is not associated with different birth weight characteristics of their twins.


2017 ◽  
Vol 20 (5) ◽  
pp. 329-334 ◽  
Author(s):  
Svetlana V. Mustafina ◽  
Oksana D. Rymar ◽  
Sofiya K. Malyutina ◽  
Diana V. Denisova ◽  
Liliya V. Shcherbakova ◽  
...  

Aims. To estimate the prevalence of type 2 diabetes mellitus (T2DM) in different age groups of the adult population of Novosibirsk, according to epidemiological studies in 20032005 and 20132016. Methods. We examined a representative population sample (assessed in 20032005) of men and women aged 4569 years in two administrative districts of Novosibirsk, as a part of the international HAPIEE project. According to the tables of random numbers, representative samples of men and women aged 4569 years were formed, to which letters were sent, inviting them to pass for examination. During 20132016, a second population survey was conducted on a random representative sample of a population of 2544-year-olds of both sexes. Participants were residents of one of the districts of Novosibirsk. T2DM and impaired fasting glucose (IFG) were diagnosed using fasting plasma glucose (FPG) levels (diabetes: FPG 7.0 mmol/l; IFG: FPG 6.16.9 mmol/l). Results. The prevalence of T2DM among residents aged 4569 years was 11.3%, and overall, no significant difference in prevalence was found between females and males (11.3% vs. 11.0%). However, the overall prevalence of T2DM among residents aged 2544 years was 2.2%, and prevalence was higher in men (3.5%) than in women (1.1%), p 0.05. High prevalence of IFG was found in the 4569 age group (18.2%, in 20032005), and in the younger age group of 2544 years (21.6%, in 20132016). The high rate among young individuals is particularly alarming. Less than one half (4.8 out of 11.3%) of participants aged 4569 tested positive for T2DM, and only one in the age group 2544 years knew he/she had diabetes. This indicates a lack of knowledge among Siberians about their problem with diabetes. Conclusion. Approximately one in five adults had IFG. Among the adult population aged 4569 (in 20032005), 18.2% had IFG and 11.3% had T2DM. In individuals aged 2544 years in 20132016, IFG was observed in 21.6%, and 2.2% had T2DM (p0.05).


2021 ◽  
Author(s):  
Maria Grasiele dos Anjos Gois ◽  
Laura Magalhães Guitzel ◽  
Layne Nunes Lins ◽  
Thaís Lima Barreto ◽  
Daniele Santos Fonseca ◽  
...  

Background: Epilepsy is a neurological disease characterized by abnormal and excessive electrical discharges in the brain, with the occurrence of two or more seizures during 12 months, without causing fever, traumatic brain injury, hydroelectrolytic alteration or concomitant disease. Knowing the panorama of hospitalizations makes it possible to manage and direct resources in order to adapt to the needs of the age group. Objectives: Compare the age groups in relation to the number of hospitalizations for Epilepsy in Bahia between 2014 and 2020. Methods: Work carried out based on secondary data through public consultation to the DataSUS platform, through the Hospital Production System of the Unified Health System (SIH- SUS). All cases of hospitalization for epilepsy in children between January 2014 and December 2020, in the state of Bahia, were included. Results: The age group that presented the highest rate of hospitalization was 1-4 years old with an average of 39.49%, followed by the age group between 5-9 years old with 20.16%, in addition to those younger than 1 year old with 16, 70%, with the age groups between 10-14 years old and 15-19 being the last with 13.65% and 10% respectively. Conclusions: It is observed that there is a higher incidence rate of hospitalizations in children under 9 years of age, explained by the high rate of epilepsy that evolve, most of the time, with the disappearance in adolescence, elucidating the lowest rates in the age group over 10 years.


2019 ◽  
Vol 7 (24) ◽  
pp. 4427-4431 ◽  
Author(s):  
Tien-Truong Dang ◽  
Thi Mui Phung ◽  
Hoang Le ◽  
Thi-Bich-Van Nguyen ◽  
Thi Sim Nguyen ◽  
...  

BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of embryos in vitro fertilization (IVF). AIM: This study was aimed to assess the relationship between maternal age and chromosomal abnormalities NGS technology. METHODS: 603 human trophectoderm (TE) biopsied samples were tested by Veriseq kit of Illumina. The relation of marternal age and chromosomal abnormality of blastocyst embryo was evaluated. RESULTS: Among the 603 TE samples, 247 samples (42.73%) presented as chromosomal abnormalities. The abnormalities occurred to almost chromosomes, and the most popular aneuploidy observed is 22. Aneuploidy rate from 0.87% in chromosome 11 to 6.06% in chromosome 22. The rate of abnormal chromosome increased dramatically in group of mother's ages over 37 (54.17%) comparing to group of mother's ages less than 37 (38.05%) (p < 0.000). The Abnormal chromosome and maternal age has a positive correlation with r = 0.4783 (p<0.0001). CONCLUSION: These results showed high rate abnormal chromosome and correlated with advanced maternal age of blastocyst embryos.


2020 ◽  
Author(s):  
Li-Ping Chen ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
Jing-Xian Xie ◽  
...  

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.


1994 ◽  
Vol 28 (1) ◽  
pp. 55-62 ◽  
Author(s):  
Adolf Niggeschulze ◽  
Alexander Kast

The fertility of rats ranges from one to 18 months. In standard teratogenicity testing young, mature females are used which may not reflect the situation in women above 35 years old. Reproduction among different age groups of Wistar ats (strain Chbb : THOM) was compared at 3, 6, 9, 12, 15 and 18 months. At least 20 virgin females were inseminated per age group. The copulation rate did not differ between the groups. From the maternal age of 12 months, the pregnancy rate was significantly decreased, from the age of 9 months, the litter values were significantly lowered and the resorption rates were increased. Maternal age did not influence the incidence of fetal variations and malformations. Additionally, the chromosomal aberration rate in the bone marrow was evaluated in male and female rats. Twelve animals of each sex were scheduled per group, and studied at the age of 1, 3, 6, 12, 15, 18, 21 or 24 months. In males, the aberration rate increased continuously from 0.18 through 3%, while in females the increase continued from 0.33 to 2.29% at 15 months old when a plateau was reached. When testing new compounds for embryotoxicity or genotoxicity in female rats, the animals should be of comparable age to man in order to avoid a misinterpretation of spontaneous abnormalities. From these studies, however, it was concluded that the use of higher age groups of female rats in teratogenicity studies would not improve the risk assessment.


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