Triploidy in a Live-Born Extremely Low Birth Weight Twin: Clinical Aspects

2020 ◽  
Author(s):  
Liliya Vakrilova ◽  
Stanislava Hitrova-Nikolova ◽  
Irena Bradinova
Keyword(s):  
Left Lung ◽  
Extremely Low Birth Weight ◽  
Clinical Aspects ◽  
Severe Respiratory Distress ◽  
Vitro Fertilization ◽  
Gestational Week ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction ◽  
Second Twin

AbstractTriploidy is a rare chromosomal aberration characterized by a karyotype with 69 chromosomes. Triploid fetuses usually are miscarried in early pregnancy. We present a case of a triploid twin and a genetically unaffected co-twin, conceived through in vitro fertilization. A discordant growth was registered at 20 weeks of gestation. Cesarean section was performed at 355/7 gestational week. The second twin was extremely growth restricted female (780 g) with oligohydramnios and severe respiratory distress, and died at 20 hours of age. The autopsy revealed unilobar left lung, bilobar right lung, and cysts of the terminal bronchioles. Quantitative fluorescent polymerase chain reaction detected triploidy compatible pattern. So, early intrauterine growth restriction may be a sign of triploidy, which must be proven by pre or postnatal genetic testing.

scholarly journals Delayed Interval Delivery of a Second Twin after the Preterm Labor of the First One in Twin Pregnancies: Delayed Delivery in Twin Pregnancies

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Yunus Aydin ◽  
Murat Celiloglu
Keyword(s):  
Preterm Labor ◽  
Therapeutic Option ◽  
Cervical Cerclage ◽  
Vitro Fertilization ◽  
Gynecological Examination ◽  
Gestational Week ◽  
Twin Pregnancies ◽  
Delayed Interval Delivery ◽  
Second Twin

A diamnionic dichorionic twin pregnant women (due to in vitro fertilization) admitted to emergency department at the 21st week of gestation because of regular contractions. By gynecological examination, we observed 8 cm dilated cervix with 80% effacement. Amniotic membrane was also bulging through the cervix. After evaluation delivery of the presenting fetus occurred quickly. The baby’s weight was 610 gr and no heart activity was detected. Placenta of the first fetus expulsed immediately. We decided to retain the second fetus to allow the improvement in the outcome. McDonald cerclage was performed and the patient treated with tocolytics and antibiotics, and she was continuously monitored up to the 28th week of pregnancy. After she was discharged in the 28th week, she was controlled weekly in obstetrics clinic. At the 36th gestational week which was 101 days after the cerclage procedure, 3639 g male fetus was delivered with cesarean section and had an uneventful neonatal course. Delayed-interval delivery is useful and acceptable therapeutic option for the management of the remaining fetus in twin pregnancies even after the expulsion of the placenta. Antibiotic and tocolytic administration with cervical cerclage application can be associated with longer interdelivery interval.

Beckwith-Wiedemann Syndrome

2019 ◽  
pp. 39-72
Author(s):  
Alessandro Mussa ◽  
Jennifer M. Kalish ◽  
Flavia Cerrato ◽  
Andrea Riccio ◽  
Giovanni Battista Ferrero
Keyword(s):  
Differential Diagnosis ◽  
In Vitro Fertilization ◽  
Diagnostic Criteria ◽  
Clinical Aspects ◽  
Molecular Pathways ◽  
Vitro Fertilization ◽  
Imprinting Disorders ◽  
Risk Of Malignancy ◽  
Overgrowth Syndromes

This chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders. It starts with a description of the clinical aspects of the condition, including diagnostic criteria, differential diagnosis, risk of malignancy, and management. This is followed by an in-depth description of the genetic causes of the syndrome and of the molecular pathways involved in the pathogenesis of this disorder. The complexities of the etiology, which involves two neighboring loci, each one regulated by finely tuned imprinting mechanisms, are clearly delineated. The chapter also touches on the reported association between in vitro fertilization and risk of conceiving a baby with this syndrome.

scholarly journals Cell-Free, Embryo-Specific sncRNA as a Molecular Biological Bridge between Patient Fertility and IVF Efficiency

2019 ◽  
Vol 20 (12) ◽  
pp. 2912 ◽  
Author(s):  
Angelika V. Timofeeva ◽  
Vitaliy V. Chagovets ◽  
Yulia S. Drapkina ◽  
Nataliya P. Makarova ◽  
Elena A. Kalinina ◽  
...  
Keyword(s):  
Embryo Development ◽  
Culture Media ◽  
Expression Profiles ◽  
Embryo Implantation ◽  
Human Reproduction ◽  
Vitro Fertilization ◽  
Small Noncoding Rnas ◽  
Polymerase Chain ◽  
Next Generation Sequencing Ngs

Small noncoding RNAs (sncRNAs) are key regulators of the majority of human reproduction events. Understanding their function in the context of gametogenesis and embryogenesis will allow insight into the possible causes of in vitro fertilization (IVF) implantation failure. The aim of this study was to analyze the sncRNA expression profile of the spent culture media on day 4 after fertilization and to reveal a relationship with the morphofunctional characteristics of gametes and resultant embryos, in particular, with the embryo development and implantation potential. Thereto, cell-free, embryo-specific sncRNAs were identified by next generation sequencing (NGS) and quantified by reverse transcription coupled with polymerase chain reaction (RT-PCR) in real-time. Significant differences in the expression level of let-7b-5p, let-7i-5p, piR020401, piR16735, piR19675, piR20326, and piR17716 were revealed between embryo groups of various morphological gradings. Statistically significant correlations were found between the expression profiles of piR16735 and piR020401 with the oocyte-cumulus complex number, let-7b-5p and piR020401 with metaphase II oocyte and two pronuclei embryo numbers, let-7i-5p and piR20497 with the spermatozoid count per milliliter of ejaculate, piR19675 with the percentage of linearly motile spermatozoids, let-7b-5p with the embryo development grade, and let-7i-5p with embryo implantation. According to partial least squares discriminant analysis (PLS-DA), the expression levels of let-7i-5p (Variable Importance in Projection score (VIP) = 1.6262), piR020401 (VIP = 1.45281), and piR20497 (VIP = 1.42765) have the strongest influences on the implantation outcome.

scholarly journals Selection of male goat embryos in vitro by using swim-up of epididymal spermatozoa

2018 ◽  
Vol 42 (1) ◽  
pp. 79-86
Author(s):  
Ihsan H. S. Al-Timimi
Keyword(s):  
Polymerase Chain Reaction ◽  
In Vitro Fertilization ◽  
In Vitro Maturation ◽  
Chain Reaction ◽  
Vitro Fertilization ◽  
The Mean ◽  
Polymerase Chain ◽  
Epididymal Spermatozoa ◽  
Selection Of

     The main objectives of this study is the separation of X from Y bearing epididymal spermatozoa of local buck by swim-up, and the use of this spermatozoa for in vitro fertilization to determine the percentage of produced male and female embryos. The sex of produced embryo was identified by polymerase chain reaction. Testis of the local buck were obtained from Al-Shu'alah abattoir and the epididymal spermatozoa were harvested from the cauda by and submitted to in vitro maturation prior to separation of X from Y bearing spermatozoa and prior to their use for in vitro fertilization. For the separation of epididymal spermatozoa, swim-up technique was used with centrifugation at 200×g or 300×g. The centrifugation at 200×g showed that 41.84±1.39 % of spermatozoa were detected in the supernatant while the precipitate contained 50.69±0.71 and the mean of the sperm lost was 7.65±0.93. After centrifugation, spermatozoa in the supernatant were used for in vitro fertilization of matured oocytes. The sex of in vitro produced goat embryos was determined by polymerase chain reaction using specific primers to detect of SRY gene. The percentage of total goat embryos obtained after in vitro fertilization by sperms selected using swim-up at centrifugation force of 200×g recorded 79.66 % male embryos while female embryos recorded only 20.33 %. At the end, the results showed the ability of selection male embryos in caprine by application of swim-up technique on epididymal spermatozoa with centrifugation at 200×g.

Specific characteristics of multiple pregnancies after in vitro fertilization

2020 ◽  
Vol 19 (5) ◽  
pp. 114-123
Author(s):  
S.A. Kalashnikov ◽  
Keyword(s):  
Birth Weight ◽  
In Vitro Fertilization ◽  
Premature Birth ◽  
Multiple Pregnancy ◽  
Research Problem ◽  
Reproductive Age ◽  
Extremely Low Birth Weight ◽  
Multiple Pregnancies ◽  
Vitro Fertilization

Multiple pregnancy is currently considered an important social and research problem, because it is often associated with a number of complications, such as premature birth and extremely low birth weight. Multiple pregnancies are facilitated by late reproductive age of the mother and in vitro fertilization (IVF) with the transfer of several embryos. In this review, we analyze specific characteristics of multiple pregnancies after IVF. Key words: twins, neonatal outcomes, in vitro fertilization

Preterm labor – an unresolved problem of the XXI century

2021 ◽  
pp. 9-16
Author(s):  
V.E. Radzinsky ◽  
◽  
A.A. Orazmuradov ◽  
Keyword(s):  
In Vitro Fertilization ◽  
Preterm Labor ◽  
Perinatal Outcomes ◽  
Extremely Low Birth Weight ◽  
Upward Trend ◽  
Vitro Fertilization ◽  
Early Neonatal Mortality ◽  
Key Words Preterm

The article discusses one of the most significant problems in the modern obstetric practice – preterm labor (PL). The upward trend in PL worldwide is related to an increase number of multiple pregnancies due to in vitro fertilization (IVF). PL is one of the main causes of early neonatal mortality and disability in children, also increases the survival rate of newborns with extremely low birth weight, and therefore it significantly changes the structure of surviving premature infants' morbidity. The greatest threat is represented by the «threshold» stages of the disease, with the development of which the process becomes almost irreversible and requires immediate treatment. To improve the perinatal outcomes of PL, the authors draw attention to two problems: first of them – to understand the mechanism of PL, the second one-to work out tactics that allow to carry out measures that can delay, prevent the distress syndrome, and improve fetal condition at any stage of the disease. Key words: preterm birth, in vitro fertilization, quality of life, retinopathy of prematurity.

scholarly journals Correlation of Sperm Mitochondrial DNA 7345 bp and 7599 bp Deletions with As-thenozoospemia in Jordanian Population

2021 ◽  
Author(s):  
Mazhar Salim Al Zoubi ◽  
Ali M. Al-Talafha ◽  
Emad Al Sharu ◽  
Bahaa Al-Trad ◽  
Ayman Alzu'bi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Sperm Motility ◽  
Chi Square ◽  
Vitro Fertilization ◽  
Infertile Men ◽  
Mtdna Deletion ◽  
Pcr Products ◽  
Polymerase Chain ◽  
Infertile Group

Background: Alterations in sperm mitochondrial DNA (mtDNA) affect the functions of some OXPHOS proteins which will affect sperm motility and may be associated with asthenozoospermia. The purpose of this study was to investigate the correlation between 7599-bp and 7345-bp sperm mtDNA deletions and asthenozoospermia in Jordan. Methods: Semen specimens from 200 men including 121 infertile and 79 healthy individuals were collected at the Royal Jordanian Medical Services In-vitro fertilization (IVF) units. The mtDNA was extracted followed by mtDNA amplification. Polymerase chain reaction (PCR) was conducted for the target sequences, then DNA sequencing was performed for the PCR products. Chi-square, Fisher's and Spearman's tests were used to calculate the correlation.  Results: The results showed a significant correlation between the presence of 7599-bp mtDNA deletion and infertility where the frequency of the 7599-bp deletion was 63.6% in the infertile group compared to the fertile 34.2% (p<0.001, (OR=3.37, 95% CI=1.860 to 6.108)). Additionally, the sperm motility showed a significant association with the frequency of the 7599-bp deletion (p=0.001, r=-0.887). The 7345-bp mtDNA deletion showed no assoctiation with the infertility (p=0.65, (OR=0.837, 95% CI= 0.464-1.51)) or asthenozoospermia (p=0.98, r=0.008). Conclusion: We demonstrated a significant correlation between asthenozoospermia and the 7599-bp mtDNA deletion but not the 7345-bp mtDNA deletion in the infertile men in Jordan. Screening for deletions in sperm mtDNA can be used as a pre-diagnostic molecular marker for male infertility.

The effects of follicle-stimulating hormone receptor (FSHR) -29 and Ser680Asn polymorphisms in IVF/ICSI

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Chrysa Paschalidou ◽  
Elli Anagnostou ◽  
Despoina Mavrogianni ◽  
Rami Raouasnte ◽  
Nikiforos Klimis ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Promoter Polymorphism ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Vitro Fertilization ◽  
Polymerase Chain ◽  
Stimulating Hormone

AbstractBackgroundThe aim of this study was to analyze two different polymorphisms, Ser680Asn and -29 (G>A) promoter polymorphism, of the follicle-stimulating hormone receptor (FSHR) gene, individually but also in combination, in a sample of Greek women undergoing in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).Materials and methodsOne hundred and forty-one women undergoing IVF or ICSI and 94 controls were genotyped by real-time polymerase chain reaction (RT-PCR) for the two FSHR polymorphisms. The association of the alleles with the clinical, biochemical and other parameters concerning the controlled ovarian stimulation (COS) protocol and outcome was investigated, as well as the pregnancy rate.ResultsThe study of each polymorphism individually revealed a positive correlation of the SerSer genotype (Ser680Asn polymorphism) with higher luteinizing hormone (LH) levels on the third day of the menstrual cycle. On the other hand, the A allele for the -29 (G>A) promoter polymorphism correlated with the increased number and quality of cumulus-oocyte complexes (COCs). No differences were detected when the different genotypes of the two polymorphisms were combined – the population study was grouped according to the number of polymorphic alleles they carried (0–4 alleles). Women who presented all polymorphic alleles, AsnAsn/AA, exhibited the lowest LH levels (2.62 ± 0.68 mIU/L), but were rarely detected (n = 2, 1.4% of the studied population).ConclusionsThe data from this study reflect that the investigation of the combination of polymorphisms, such as FSHR -29 and Ser680Asn, could offer a valuable tool in order to evaluate and anticipate the outcome of the ovulation induction protocols, especially in the group of patients with failed attempts.

scholarly journals Anti-Müllerian Hormone Gene Polymorphism is Associated with Clinical Pregnancy of Fresh IVF Cycles

2019 ◽  
Vol 16 (5) ◽  
pp. 841
Author(s):  
Cheng-Hsuan Wu ◽  
Shun-Fa Yang ◽  
Hui-Mei Tsao ◽  
Yu-Jun Chang ◽  
Tsung-Hsien Lee ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Clinical Pregnancy ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Vitro Fertilization ◽  
Ethnic Populations ◽  
Significant Difference ◽  
Significant Independent Factor ◽  
Polymerase Chain

The aim of this study was to examine the effects of single-nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) and AMH type II receptor (AMHRII) genes on in vitro fertilization (IVF) outcomes. In this prospective cohort study, we genotyped the AMH 146 T > G, AMHRII −482 A > G and AMHRII IVS1 +149 T > A variants in 635 women undergoing their first cycle of controlled ovarian stimulation for IVF. DNA was extracted from the peripheral blood of all participants, and the SNPs were genotyped by real-time polymerase chain reaction. The distributions, frequencies of genes, and correlation with clinical pregnancy of IVF were analyzed. The AMH 146 T > G G/G genotype in women was associated with a lower clinical pregnancy rate (T/T: 55.0%, T/G: 51.8%, G/G: 40.0%; p < 0.05). Women with the AMH 146 T > G GG genotype were half as likely to have a clinical pregnancy compared with women with TT genotypes (OR = 0.55, 95% CI: 0.34–0.88, p = 0.014). With multivariate analysis, the AMH 146 T > G GG genotype remains as a significant independent factor to predict clinical pregnancy (p = 0.014). No significant difference was found between AMHRII polymorphisms and clinical pregnancy outcomes of IVF. In conclusion, our results show that AMH 146 T > G seems to be a susceptibility biomarker capable of predicting IVF pregnancy outcomes. Further studies should focus on the mechanism of these associations and the inclusion of other ethnic populations to confirm the findings of this study.

scholarly journals Minireview Exploring the Biological Cycle of Vitamin B3 and Its Influence on Oxidative Stress: Further Molecular and Clinical Aspects

Molecules ◽  
2020 ◽  
Vol 25 (15) ◽  
pp. 3323 ◽  
Author(s):  
Bogdan Doroftei ◽  
Ovidiu-Dumitru Ilie ◽  
Roxana-Oana Cojocariu ◽  
Alin Ciobica ◽  
Radu Maftei ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Underlying Mechanism ◽  
Oocyte Quality ◽  
Clinical Aspects ◽  
Vitamin B3 ◽  
Close Link ◽  
Vitro Fertilization ◽  
Novel Coronavirus ◽  
B Vitamin

Vitamin B3, or niacin, is one of the most important compounds of the B-vitamin complex. Recent reports have demonstrated the involvement of vitamin B3 in a number of pivotal functions which ensure that homeostasis is maintained. In addition, the intriguing nature of its synthesis and the underlying mechanism of action of vitamin B3 have encouraged further studies aimed at deepening our understanding of the close link between the exogenous supply of B3 and how it activates dependent enzymes. This crucial role can be attributed to the gut microflora and its ability to shape human behavior and development by mediating the bioavailability of metabolites. Recent studies have indicated a possible interconnection between the novel coronavirus and commensal bacteria. As such, we have attempted to explain how the gastrointestinal deficiencies displayed by SARS-CoV-2-infected patients arise. It seems that the stimulation of a proinflammatory cascade and the production of large amounts of reactive oxygen species culminates in the subsequent loss of host eubiosis. Studies of the relationhip between ROS, SARS-CoV-2, and gut flora are sparse in the current literature. As an integrated component, oxidative stress (OS) has been found to negatively influence host eubiosis, in vitro fertilization outcomes, and oocyte quality, but to act as a sentinel against infections. In conclusion, research suggests that in the future, a healthy diet may be considered a reliable tool for maintaining and optimizing our key internal parameters.

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