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Frontiers in Medicine 2024Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a... (Review)
Review
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother's placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.
PubMed: 38938382
DOI: 10.3389/fmed.2024.1388481 -
Case Reports in Obstetrics and... 2024Primary extragonadal germ cell tumors (EGCTs) are a very rare clinical encounter most commonly reported in males. Among females, the placenta, pelvis, uterus, brain, and...
INTRODUCTION
Primary extragonadal germ cell tumors (EGCTs) are a very rare clinical encounter most commonly reported in males. Among females, the placenta, pelvis, uterus, brain, and mediastinum are the most common extragonadal sites and predominantly display nondysgerminoma histology. In this report, we present a case of a primary cervical dysgerminoma in a young female patient. . An 18-year-old nulligravid woman presented with a 12-month history of vaginal bleeding and discharge. Routine blood tests and serum levels of tumor markers were within normal limits. The chest X-ray was normal. A high-resolution pelvic MRI showed a well-defined lobulated cervicovaginal mass measuring 8 × 6 × 5 cm expanding into the vaginal canal with mild homogenous contrast enhancement. An incisional biopsy was performed vaginally under anesthesia, and histologic findings were consistent with dysgerminoma. A repeat follow-up pelvic MRI was done and showed a reduction in the size of the mass by more than 70%. The patient was treated with 4 cycles of bleomycin, etoposide, and cisplatin chemotherapy. Additional external pelvic beam radiation treatment was administered for a partial response. After 3 months of radiotherapy, a contrast abdominopelvic CT scan showed a recurrent cervicovaginal mass with extension to the pelvic sidewalls. The patient was initiated with ifosfamide, paclitaxel, and cisplatin (ITP) as second-line chemotherapy for a recurrent germ cell tumor but later died from hydronephrosis, chronic anemia, and sepsis.
CONCLUSION
The uterine cervix is a very unusual site for primary dysgerminoma and can have a very aggressive clinical course. A high index of suspicion and an exhaustive workup are necessary to reach a diagnosis, particularly in a young patient presenting with a cervical lesion.
PubMed: 38938322
DOI: 10.1155/2024/6465387 -
JACC. Advances Jun 2023
PubMed: 38938231
DOI: 10.1016/j.jacadv.2023.100403 -
JACC. Advances Jun 2023Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality....
BACKGROUND
Congenital heart disease (CHD) affects 8 in 1,000 live births with significant postnatal implications including growth failure, neurodevelopmental delay, and mortality. The placenta develops concomitantly with the fetal heart. High rates of placental pathology and discordant growth in pregnancies affected by CHD highlight the significance of the fetal-placental-cardiac axis.
OBJECTIVES
This study aimed to characterize the relationship between neonatal birthweight (BW), head circumference, placental weight (PW), and placental pathology in pregnancies affected by CHD. PW:BW provides a surrogate to assess placental efficiency, or nutrient exchange and delivery by the placenta, across CHD phenotypes.
METHODS
Retrospective cohort of 139 live-born singletons with postnatally confirmed CHD with placental pathology. Placental examination, infant BW, head circumference, and CHD categories (septal defects, right-sided defects, left-sided defects, conotruncal anomalies, and others) were included. Chi-square, Fisher's exact, or Kruskall-Wallis tests and multinomial logistic regressions, as appropriate.
RESULTS
Median birthweight and head circumference percentile was 33 and 35, respectively. Placental pathology was documented in 37% of cases. PW to BW ratios were <10th percentile for 78% and <3rd percentile for 54% of the cohort, with no difference between CHD categories ( = 0.39 and = 0.56, respectively).
CONCLUSIONS
Infants with CHD have preserved BW and head circumferences in the setting of small placentas and increased prevalence of placental pathology, suggesting placental efficiency. Detection of abnormal placental growth could add prenatal diagnostic value. Placental and neonatal discordant growth may allude to a vascular anomaly predisposing fetuses to developing CHD. Further studies are needed to explore fetal nutrient delivery and utilization efficiency.
PubMed: 38938228
DOI: 10.1016/j.jacadv.2023.100383 -
The Role of N6-methyladenosine Modification in Gametogenesis and Embryogenesis: Impact on Fertility.Genomics, Proteomics & Bioinformatics Jun 2024The most common epigenetic modification of messenger ribonucleic acids (mRNAs) is N6-methyladenosine (m6A), which is mainly located near the 3' untranslated region of...
The most common epigenetic modification of messenger ribonucleic acids (mRNAs) is N6-methyladenosine (m6A), which is mainly located near the 3' untranslated region of mRNAs, near the stop codons, and within internal exons. The biological effect of m6A is dynamically modified by methyltransferases (writers), demethylases (erasers), and m6A-binding proteins (readers). By controlling post-transcriptional gene expression, m6A has a significant impact on numerous biological functions, including RNA transcription, translation, splicing, transport, and degradation. Hence, m6A influences various physiological and pathological processes, such as spermatogenesis, oogenesis, embryogenesis, placental function, and human reproductive system diseases. During gametogenesis and embryogenesis, genetic material undergoes significant changes, including epigenomic modifications such as m6A. From spermatogenesis and oogenesis to the formation of an oosperm and early embryogenesis, m6A changes occur at every step. m6A abnormalities can lead to gamete abnormalities, developmental delays, impaired fertilization, and maternal-to-zygotic transition blockage. Both mice and humans with abnormal m6A modifications exhibit impaired fertility. In this review, we discuss the dynamic biological effects of m6A and its regulators on gamete and embryonic development and review the possible mechanisms of infertility caused by m6A changes. We also discuss the drugs currently used to manipulate m6A and provide prospects for the prevention and treatment of infertility at the epigenetic level.
PubMed: 38937660
DOI: 10.1093/gpbjnl/qzae050 -
Nature Communications Jun 2024Gut microbiomes of mammals carry a complex symbiotic assemblage of microorganisms. Feeding newborn infants milk from the mammary gland allows vertical transmission of...
Gut microbiomes of mammals carry a complex symbiotic assemblage of microorganisms. Feeding newborn infants milk from the mammary gland allows vertical transmission of the parental milk microbiome to the offspring's gut microbiome. This has benefits, but also has hazards for the host population. Using mathematical models, we demonstrate that biparental vertical transmission enables deleterious microbial elements to invade host populations. In contrast, uniparental vertical transmission acts as a sieve, preventing these invasions. Moreover, we show that deleterious symbionts generate selection on host modifier genes that keep uniparental transmission in place. Since microbial transmission occurs during birth in placental mammals, subsequent transmission of the milk microbiome needs to be maternal to avoid the spread of deleterious elements. This paper therefore argues that viviparity and the hazards from biparental transmission of the milk microbiome, together generate selection against male lactation in placental mammals.
Topics: Animals; Lactation; Female; Male; Symbiosis; Gastrointestinal Microbiome; Milk; Pregnancy; Mammals; Maternal Inheritance
PubMed: 38937464
DOI: 10.1038/s41467-024-49559-5 -
PloS One 2024[This corrects the article DOI: 10.1371/journal.pone.0285096.].
Correction: Perinatal mortality rate and adverse perinatal outcomes presumably attributable to placental dysfunction in (near) term gestation: A nationwide 5-year cohort study.
[This corrects the article DOI: 10.1371/journal.pone.0285096.].
PubMed: 38935755
DOI: 10.1371/journal.pone.0306376 -
Frontiers in Endocrinology 2024The utilization of frozen embryo transfer not only enhances reproductive outcomes by elevating the likelihood of live birth and clinical pregnancy but also improves... (Comparative Study)
Comparative Study
INTRODUCTION
The utilization of frozen embryo transfer not only enhances reproductive outcomes by elevating the likelihood of live birth and clinical pregnancy but also improves safety by mitigating the risks associated with ovarian hyperstimulation syndrome (OHSS) and multiple pregnancies. There has been an increasing debate in recent years regarding the advisability of making elective frozen embryo transfer the standard practice. Our study aims to determine the optimal choice between fresh and frozen embryo transfer, as well as whether the transfer should occur at the cleavage or blastocyst stage.
METHOD
In this retrospective cohort study conducted in Taiwan, data from the national assisted reproductive technology (ART) database spanning from January 1st, 2013, to December 31st, 2017, were analyzed. The study included 51,762 eligible female participants who underwent ART and embryo transfer. Pregnancy outcomes, maternal complications, and singleton neonatal outcomes were evaluated using the National Health Insurance Database from January 1st, 2013, to December 31st, 2018. Cases were categorized into groups based on whether they underwent fresh or frozen embryo transfers, with further subdivision into cleavage stage and blastocyst stage transfers. Exposure variables encompassed clinical pregnancy rate, live birth rate, OHSS, pregnancy-induced hypertension, gestational diabetes mellitus (DM), placenta previa, placental abruption, preterm premature rupture of membranes (PPROM), gestational age, newborn body weight, and route of delivery.
RESULTS
Frozen blastocyst transfers showed higher rates of clinical pregnancy (CPR) and live births (LBR) compared to fresh blastocyst transfers. Conversely, frozen cleavage stage transfers demonstrated lower rates of clinical pregnancy and live birth compared to fresh cleavage stage transfers. Frozen embryo transfers were associated with reduced risks of OHSS but were linked to a higher risk of pregnancy-induced hypertension compared to fresh embryo transfers. Additionally, frozen embryo transfers were associated with a higher incidence of large for gestational age infants and a lower incidence of small for gestational age infants.
CONCLUSION
The freeze-all strategy may not be suitable for universal application. When embryos can develop to the blastocyst stage, FET is a favorable choice, but embryos can only develop to the cleavage stage, fresh embryo transfer becomes a more reasonable option.
Topics: Humans; Female; Pregnancy; Embryo Transfer; Adult; Retrospective Studies; Cryopreservation; Pregnancy Outcome; Infant, Newborn; Taiwan; Pregnancy Rate; Cohort Studies; Fertilization in Vitro; Live Birth; Blastocyst
PubMed: 38933826
DOI: 10.3389/fendo.2024.1400255 -
Frontiers in Veterinary Science 2024Hydrogen sulfide (HS) is a gaseous signaling molecule produced in the body by three enzymes: cystathionine-β-synthase (CBS), cystathionine-γ-lyase (CSE) and... (Review)
Review
Hydrogen sulfide (HS) is a gaseous signaling molecule produced in the body by three enzymes: cystathionine-β-synthase (CBS), cystathionine-γ-lyase (CSE) and 3-mercaptopyruvate sulfurtransferase (3-MST). HS is crucial in various physiological processes associated with female mammalian reproduction. These include estrus cycle, oocyte maturation, oocyte aging, ovulation, embryo transport and early embryo development, the development of the placenta and fetal membranes, pregnancy, and the initiation of labor. Despite the confirmed presence of HS-producing enzymes in all female reproductive tissues, as described in this review, the exact mechanisms of HS action in these tissues remain in most cases unclear. Therefore, this review aims to summarize the knowledge about the presence and effects of HS in these tissues and outline possible signaling pathways that mediate these effects. Understanding these pathways may lead to the development of new therapeutic strategies in the field of women's health and perinatal medicine.
PubMed: 38933705
DOI: 10.3389/fvets.2024.1378435 -
The Pan African Medical Journal 2024Placenta accreta is a rare but serious placental attachment abnormality. The aim of this study is to analyze the epidemiological, clinical, para-clinical and...
[Placenta accreta: a retrospective descriptive study of 46 patients treated in the Obstetrics and Gynaecology Department of the Farhat Hached University Hospital in Sousse, Tunisia].
Placenta accreta is a rare but serious placental attachment abnormality. The aim of this study is to analyze the epidemiological, clinical, para-clinical and evolutionary features of placenta accreta, to investigate the therapeutic management and to assess maternal and neonatal morbidity and mortality. We conducted a retrospective, descriptive study of patients with histologically confirmed placenta accreta in the obstetrics and gynaecology department of the Farhat Hached University Hospital in Sousse, over a 4-year period from 1 January 2015 to 31 December 2019. The epidemiological, clinical, paraclinical, therapeutic and evolutionary data were collected from patients´ medical records and operative reports. In our series, we identified 46 cases of placenta accreta. The average age of our patients was 35±4.61 years. Each of our patients had a scarred uterus. The average term of delivery was 34 weeks of amenorrhoea and the mode of delivery was caesarean section for all our patients. First-line hysterectomy was performed in 40 patients and conservative treatment in 6. Sixteen patients developed maternal complications. No maternal death was observed. Placenta accreta is a rare condition associated with significant maternal and foetal morbidity.
Topics: Humans; Female; Retrospective Studies; Tunisia; Placenta Accreta; Adult; Pregnancy; Hospitals, University; Hysterectomy; Cesarean Section; Young Adult; Infant, Newborn; Conservative Treatment
PubMed: 38933434
DOI: 10.11604/pamj.2024.47.147.38111