Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

Screening for perinatal depression and stress: a prospective cohort study.

PURPOSE: There is currently a heightened need for perinatal medical services to timely recognize and accurately meet the psychological needs of pregnant women. Psychological disturbances a mother experiences during pregnancy, such as depression and anxiety, can be later associated with inadequate maternal capacity for antenatal care for herself and the baby, and may lead to subsequent mental health problems later in the mother's life. Routine prenatal assessment could significantly benefit from being proactively enriched with early prevention mental health screening tools to assess, appropriately manage vulnerable populations, and subsequently implement preventive actions. METHODS: 178 pregnant women, under routine prenatal medical assessment, were measured regarding depressive symptomatology and stress, through the use of two validated psychometric tools (the Edinburgh Postnatal Depression Scale (EPDS) and the Perceived Stress Scale (PSS-14)). RESULTS: Heightened perceived stress and depressive symptomatology levels were associated with younger maternal age, an obstetrical record of more than one births and a history of abortion. Results additionally showed a connection between the requirement for a psychiatric referral-based on the levels of symptomatology recorded through the psychometric assessment and a clinical interview-and currently running the earlier stages (weeks) of pregnancy. CONCLUSION: Our revised proposed prenatal screening protocol for depression and stress suggests an amplified follow-up assessment including all pregnant women scoring high in both depression and in perceived stress, regardless of previous history of prenatal depression or of suicidality, to detect earlier or less manifest expressions of distress during pregnancy, in vulnerable perinatal populations.

Making obstetrics more environmentally sustainable during and beyond the COVID-19 pandemic.

The climate crisis has increased the burden of obstetrical care due to the negative impact of environmental disruption on the health of pregnant women, new mothers, foetuses and neonates. During the COVID-19 pandemic, the ecological footprint of obstetrical care has significantly increased due to the use of personal protective equipment and the provision of large-scale testing and vaccination of pregnant women and healthcare personnel against COVID-19. The situation calls for coordinated action to make obstetrics more resource efficient. To achieve this goal, obstetricians need to rationalise the use of electricity, water, paper and plastic, adopt green surgical practices and integrate environmental sustainability in their working culture and personal life at large. The present article discusses the main sources of environmental pollution in obstetrical care and proposes evidence-based solutions.

Migration and newborn screening: time to build on the European Asylum, Integration and Migration Fund?

PURPOSE: The authors discuss the need for newborn screening in the context of the migration policy of the European Union, and particularly, the European Asylum, Migration and Integration Fund. METHODS: The authors searched scholarly databases (Pubmed, Scopus, Google scholar) and grey literature (LexEuropa, Policy reports) to identify original peer-reviewed research examining the migration to the European Union and the provision of healthcare to infants born to refugees and immigrant mothers. Resources in language different from English, French, German and Greek were not taken into consideration. RESULTS: Every year, a large number of refugees and immigrants from sub-Saharan Africa and Middle East countries travel to and enter in Europe. It has been estimated that two thirds of those seeking asylum are women and children. Many of these children have been born on the way to Europe or in migrant camps. Essential newborns' health screening is not accessible in most cases. Congenital conditions such as hypothyroidism and phenylketonuria may remain untreated, and once these infants are diagnosed, the organic damage could be irreversible. Prolonged necessary hospitalisation might be out of consideration at a time when clinics and hospitals are overstrained with COVID-19 patients. CONCLUSIONS: It is essential to ensure that newborn screening will be performed in a timely and evidence-based manner as well as that the information will be communicated between hospitals and within countries' health networks. In order to achieve these goals interdisciplinary and international technical and logistical collaboration are required.

Uterus Transplantation as Infertility Treatment in Gynecological Cancer Survivors: A Systematic Review.

Background: The aim of this systematic review is to summarize the evidence regarding the acceptance of uterine transplantation as infertility treatment among gynecological cancer survivors, surgical and pregnancy outcomes post-transplantation for gynecological cancer survivors, as well as relevant adverse events. Methods: PubMed and Embase were searched for records published since 2000, and extensive reference screening was performed. Results: Out of 1901 unique records identified, 7 are included in this review; 4 examined the proportion of gynecological cancer survivors among applicants for uterine transplantation, 2 examined rejection rates, pregnancy rates, and outcomes after uterine transplantation among gynecological cancer survivors, and 2 reported the frequency of relevant adverse events. Among the applicants, 60/701 (8.6%) were gynecological cancer survivors, only 1 transplanted patient was a cervical cancer survivor and achieved two live births after eight embryo transfers, and 2/27 (7.4%) of uterus transplantation recipients were diagnosed with CIN post-transplantation. Conclusions: Uterus transplantation can be regarded as an infertility treatment for absolute uterine factor infertility (AUFI), although only one gynecological cancer survivor has received a uterus transplantation. The efficacy, safety, and ethical considerations for gynecological cancer survivors need to be addressed for uterine transplantation to become an infertility treatment option for AUFI among gynecological cancer survivors.

COVID-19, Monkeypox, climate change and surgery: A syndemic undermines the right to be operated in a clean, healthy and sustainable environment.

The compounding effect of infectious outbreaks and climate change has put a strain on surgical care. Adverse weather conditions derail preoperative planning, postoperative recovery, supply chains and equipment. The COVID-19 pandemic has restricted elective surgical care for the past two years. It is expected that novel SARS-CoV-2 strains and the emergence of Monkeypox can also put barriers to surgical care. Consecutively, mounting surgical morbidity and strenuous efforts to adhere to infection control further increase the ecological footprint of surgical care fueling a vicious circle of clinical and environmental challenges. Multilevel action from the side of surgeons and surgical societies is required. This includes creating contingency plans for sustainable surgical practice amidst public health emergencies, informing stakeholders and the public about the cumulative ramifications of the syndemic on surgery and promoting social participation among surgeons.

Early Life Stress, Hormones, and Neurodevelopmental Disorders.

BACKGROUND: Early life stress (ELS) describes a broad spectrum of adverse and stressful prenatal events, namely, prenatal maternal stress (PMS), or early postnatal events, which can have detrimental long-term influences on the physiology, cognition, and behavior of an individual. There is abundant evidence indicating that ELS exerts its lasting effects on the physical and mental health of the individual, likely acting through a number of mediating mechanisms, including the disruption of developmental programming of the fetus. Neurodevelopmental disorders (NDDs), for example, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are a group of conditions that typically manifest during infancy, childhood, or adolescence and are characterized by developmental deficits in various domains. SUMMARY: The scope of the current mini-review is to provide an up-to-date summary of the findings regarding the association of ELS and NDDs and the possible hormonal mechanisms through which PMS exerts its impact on neurodevelopment. We focus on the available evidence regarding children and adolescents diagnosed with ADHD or ASD. ELS exposure during developmental vulnerability windows may increase the risk for either subclinical neuropsychological alterations or clinical conditions, such as NDDs. In fact, a large body of evidence underlies the association of ELS exposure and increased risk for NDDs in the offspring. KEY MESSAGES: The majority of data suggest that ELS, including PMS, may be associated with ADHD and ASD in the offspring, although there is no consensus regarding the critical developmental periods. Carefully controlled prospective studies are needed to determine the possible causal processes and mechanisms underlying the association of ELS and NDDs.

Pregnancy outcomes in the different phenotypes of gestational diabetes mellitus based on the oral glucose tolerance test. A systematic review and meta-analysis.

AIMS: To assess the prevalence variation in pregnancy outcomes of the different phenotypes of gestational diabetes mellitus (GDM). MATERIALS: Cohort, cross sectional and case control studies grouping together pregnant women with GDM, based on the results of oral glucose tolerance test(OGTT) and reporting pregnancy outcomes in each group, were included. The primary outcomes were (i)large for gestational age and ii)hypertensive disorders of pregnancy (HDP). The secondary outcomes included (i)insulin treatment, ii)admission to neonatal intensive care unit, iii)preterm birth, iv)small for gestational age and v)caesarean section. The pooled proportions of the outcomes of interest were calculated for each phenotype. RESULTS: 8 studies (n = 20.928 women with GDM) were included. The pooled prevalence of LGA, HDP and insulin treatment were 20 %, 8 % and 24 % respectively in women with abnormal fasting plasma glucose,10 %, 6 % and 9 % respectively in women with abnormal post-load plasma glucose and 14 %,14 % and 30 % in women with abnormal combined plasma glucose. CONCLUSIONS: Pregnant women with abnormal fasting plasma glucose, present with the highest prevalence of LGA, while those with abnormal combined plasma glucose, present with the highest prevalence of HDP. Pregnant women with abnormal post-load plasma glucose present with the lowest need for insulin treatment.

Prevalence of preeclampsia and uterine arteries resistance in the different phenotypes of gestational diabetes mellitus.

AIMS: This study aims to investigate the different phenotypes of Gestational Diabetes Mellitus (GDM), in correlation to preeclampsia and uterine arteries resistance. MATERIALS: This is a prospective cohort study including women with and without GDM per the IADPSG criteria. Three phenotypes of GDM emerged, women with only abnormal fasting (AF) glucose levels, women with only abnormal post-load (AP) glucose levels at 60' and/or 120' and women with abnormal combined (AC) fasting and post-load glucose values. All women underwent uterine arteries doppler examination in the three trimesters and assessed for preeclampsia development. Linear regression was used to express the trajectories of uterine arteries resistance throughout the pregnancy. RESULTS: 6928 pregnant women were included, 5274 without GDM and 1654 with GDM. 546, 781 and 327 of GDM pregnancies presented with AF, AP and AC phenotypes respectively. Prevalence of preeclampsia was 17.9%, 26.8% and 30% in the AF, AP and AC phenotypes respectively (p < 0.001). In women who developed preeclampsia, AC phenotype presented with statistically different trajectory of Uterine Arteries Pulsatility Index Percentiles b = 0.129 than women without GDM and women with AP GDM phenotype b = -0.015 and b = -0.016 respectively. CONCLUSIONS: The combined abnormal phenotype presents with the highest rate of preeclampsia and the most distinct pattern of uterine arteries resistance.

Giant Juvenile Fibroadenoma: Case Report and Review of the Literature.

Fibroadenomas are common benign breast tumors. Fibroadenomas that exceed 5 cm in diameter, weigh more than 500 g, or replace more than four-fifths of the breast are characterized as giant. A fibroadenoma diagnosed in patients during childhood or adolescence is characterized as juvenile. An extensive PubMed search of the literature in English up until August 2022 was performed. In addition, a rare case of a gigantic fibroadenoma in an 11-year-old premenarchal girl who was referred to our adolescent gynecology center is presented here. Eighty-seven cases of giant juvenile fibroadenomas have been reported in the literature along with our case. Patients with giant juvenile fibroadenoma presented at a mean age of 13.92 years and usually after menarche. Juvenile fibroadenomas are usually unilateral, occurring either in the right or the left breast; the majority of them are diagnosed when they are already more than 10 cm in size, and they are most frequently treated with total lump excision. Differential diagnosis includes phyllodes tumors and pseudo-angiomatous stromal hyperplasia. Conservative management is feasible, but surgical excision is recommended to patients with suspicious imaging features or when the mass grows rapidly.

The Role of Diet during Pregnancy in Protecting against Gestational Diabetes Mellitus in a Population with Mediterranean Dietary Habits: A Cross-Sectional Study.

Gestational diabetes mellitus (GDM) is a common metabolic disorder among pregnant women. Dietary habits during pregnancy might alter the risk of GDM development, and populations following the Mediterranean diet are relatively understudied. This was a cross-sectional, observational study of 193 low-risk women admitted to a private maternity hospital in Greece to give birth. Food frequency data on specific food categories, selected based on previous research, were analyzed. Logistic regression models, both crude and adjusted for maternal age, body mass index before pregnancy, and gestational weight gain, were fitted. We observed no association of carbohydrate-rich meals, sweets, soft drinks, coffee, rice, pasta, bread and crackers, potatoes, lentils, and juices with GDM diagnosis. Cereals (crude p = 0.045, adjusted p = 0.095) and fruits and vegetables (crude p = 0.07, adjusted p = 0.04) appeared to have a protective effect against GDM, while frequent tea consumption was linked to higher risk of GDM development (crude p = 0.067, adjusted p = 0.035). These results strengthen previously identified associations and underline the importance and potential impact of changing dietary habits even during pregnancy in adjusting one's risk of metabolic pregnancy complications, such as GDM. The importance of healthy dietary habits is highlighted, with the goal of raising awareness amongst obstetric care specialists regarding the provision of systematic nutrition recommendations to pregnant women.

The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.

The initiation of puberty is a crucial timepoint of development, with its disruptions being associated with multiple physical and psychological complications. Idiopathic Central Precocious Puberty (iCPP) has been correlated with Single-Nucleotide Polymorphisms (SNPs) of certain genes that are implicated in various steps of the process of pubertal onset. The aim of this review was to gather current knowledge on SNPs of genes associated with iCPP. We searched articles published on the PubMed, EMBASE and Google Scholar platforms and gathered current literature. KISS1, KISS1R, PLCB1, PRKCA, ITPR1, MKRN3, HPG axis genes, NPVF/NPFFR1, DLK1, KCNK9Q, LIN28B, PROK2R, IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin, IRS-1, LEP/LEPR, PPARγ2, TAC3, TACR3, Estrogen receptors, CYP3A4 and CYP19A1 were studied for implication in the development of precocious puberty. SNPs discovered in genes KISS1, KISS1R, PLCB1, MKRN3, NPVF, LIN28B, PROK2R, IRS-1 TAC3, and CYP3A4 were significantly correlated with CPP, triggering or protecting from CPP. Haplotype (TTTA)13 in CYP19A1 was a significant contributor to CPP. Further investigation of the mechanisms implicated in the pathogenesis of CPP is required to broaden the understanding of these genes' roles in CPP and possibly initiate targeted therapies.

Investigating the Link between Early Life and Breast Anomalies.

Several factors during childhood and adolescence are thought to be associated with the development of proliferative benign breast diseases and breast cancer in adulthood. In order to identify them, the authors conducted an extensive review of the literature up to October 2022, searching for clinical studies, reports, and guidelines in English. A thorough Medline/Pubmed and Google scholar database research was performed, investigating the link between diet, exercise, age of menarche, body mass index, ionizing radiation exposure during childhood and adolescence, and proliferative breast diseases and breast cancer in adulthood. A list of keywords, including breast disorders, adolescence, childhood, and breast cancer was included in our search algorithm. Numerous studies concede that the development of breast disease in adulthood is influenced by various risk factors, whose influence begins during early childhood and adolescence.

Eco-Friendly and COVID-19 Friendly? Decreasing the Carbon Footprint of the Operating Room in the COVID-19 Era.

Surgery is one of the most energy-intensive branches of healthcare. Although the COVID-19 pandemic has reduced surgical volumes, infection control protocols have increased the ecological footprint of surgery owing to the extensive use of personal protective equipment, sanitation, testing and isolation resources. The burden of environmental diseases requiring surgical care, the international commitment towards environmental sustainability and the global efforts to return to the pre-pandemic surgical workflow call for action towards climate-friendly surgery. The authors have searched the peer-reviewed and gray literature for clinical studies, reports and guidelines related to the ecological footprint of surgical care and the available solutions and frameworks to reduce it. Numerous studies concede that surgery is associated with a high rate of energy utilization and waste generation that is comparable to major non-medical sources of pollution. Recommendations and research questions outlining environmentally sustainable models of surgical practices span from sanitation and air quality improvement systems to the allocation of non-recyclable consumables and energy-efficient surgical planning. The latter are particularly relevant to infection control protocols for COVID-19. Paving the way towards climate-friendly surgery is a worthy endeavor with a major potential to improve surgical practice and outcomes in the long term.

Uterine Arteries Resistance in Pregnant Women with Gestational Diabetes Mellitus, Diabetes Mellitus Type 1, Diabetes Mellitus Type 2, and Uncomplicated Pregnancies.

BACKGROUND: The examination of the uterine arteries using Doppler in the first trimester of pregnancy serves as a valuable tool for evaluating the uteroplacental circulation. Diabetes mellitus is associated with altered placental implantation and pregnancy-related pathologies, such as preeclampsia. The aim of this study was to compare the uterine arteries' pulsatility indices (UtA PI) in women with diabetes mellitus type 1 (DM1), diabetes mellitus type 2 (DM2), gestational diabetes mellitus (GDM), and uncomplicated pregnancies. METHODS: This was a retrospective case-control trial including pregnant women with DM1, DM2, GDM, and uncomplicated pregnancies, presenting for first-trimester ultrasound screening in two tertiary university hospitals between 2013 and 2023. The first-trimester UtA pulsatility index (PI), expressed in multiples of medians (MoMs), was compared between the four groups. RESULTS: Out of 15,638 pregnant women, 58 women with DM1, 67 women with DM2, 65 women with GDM, and 65 women with uncomplicated pregnancies were included. The mean UtA PI were 1.00 ± 0.26 MoMs, 1.04 ± 0.32 MoMs, 1.02 ± 0.31 MoMs, and 1.08 ± 0.33 MoMs in pregnant women with DM1, DM2, GDM, and uncomplicated pregnancies, respectively (p > 0.05). CONCLUSIONS: Potential alterations in the implantation of the placenta in pregnant women with diabetes were not displayed in the first-trimester pulsatility indices of the uterine arteries, as there were no changes between the groups.

To pollute or not to pollute? Decreasing the ecological footprint of pediatrics in the COVID-19 era.

The climate crisis impacts child health, increasing the burden of pediatric healthcare. During the COVID-19 pandemic, the ecological footprint of pediatric healthcare has significantly increased due to the use of personal protective equipment and the provision of large-scale testing and vaccination against COVID-19. The situation calls for coordinated action to make pediatric healthcare more resource-efficient. To achieve this goal, pediatricians should work together with children and parents in order to appropriately minimize the use of electricity, water, paper and plastic and promote environmental sustainability in healthcare and beyond. The present article discusses the main sources of environmental pollution in pediatric healthcare and proposes evidence-based solutions.

Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature.

We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation. Fetal long bones were measured below the third centile for gestational age. Follow-up scans revealed fetal long bone growth deceleration. Initial genetic work-up was negative and the rest of the maternal follow-up was unremarkable. A male baby weighing 3180 g was delivered at 39 weeks and 4 days of gestation. Case 2 description: A 33-year-old pregnant woman presented for a routine second trimester anomaly scan at 20 weeks and 4 days of gestation. All fetal measurements were appropriate for the gestational age. The routine growth scan performed at 32 weeks showed fetal long bone measurements below the third centile for gestational age, while the follow-up growth scan at 36 weeks and 4 days of gestation revealed consistent, below the third centile, fetal long bone growth. Given that the fetuses of these two cases were related (first cousins), whole exome sequencing (WES) was performed on Case 2. WES revealed a novel heterozygous missense variant c.1132G>A (p. Gly378Ser) of COL2A1 gene (NM_001844.5). Subsequently, targeted genetic sequencing for the variant was performed on Case 1 and the same novel variant was found. Targeted sequencing revealed the same variant in the mother of Case 1 and the father of Case 2 (siblings). A female baby weighing 3200 g was delivered at 40 weeks and 4 days of gestation.

The impact of Mayer-Rokitansky-Küster-Hauser Syndrome on Psychology, Quality of Life, and Sexual Life of Patients: A Systematic Review.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital syndrome characterized by uterovaginal agenesis. Most patients are diagnosed during adolescence, when body image and sexual identity are shaped. Our main objective was to investigate how MRKH syndrome affects psychology, quality of life (QoL), and the sexual life of patients compared with non-affected individuals. METHODS: Original peer-reviewed research papers examining psychological outcomes, QoL, and sexual function of MRKH patients were searched in PubMed. Titles, abstracts, and full text from potentially eligible records were reviewed by two independent reviewers. Case reports and papers published not in English were excluded. RESULTS: Our search identified 63 records, of which 20 were included: 10 examined psychological and psychosocial outcomes, 14 examined sexual function outcomes, and 6 examined QoL outcomes. Results may be affected by selection bias and confounding due to differences between MRKH patients and controls. CONCLUSIONS: MRKH could be associated with a higher prevalence of anxiety and depression symptoms and social insecurity compared with women of a similar age without the condition. MRKH could also be associated with greater pain and discomfort during sexual intercourse and limitations in arousal, lubrication, and orgasm. MRKH patients more commonly experience impairment of mental-health-related QoL, but physical-health-related QoL is not affected.

Medical and Behavioral Aspects of Adolescent Endometriosis: A Review of the Literature.

The majority of young women will experience discomfort associated with menstrual cycles and miss out on education and social opportunities. Endometriosis, the presence of endometrial glands and stroma outside of uterus, is the most common cause of secondary dysmenorrhea and characterized by pain despite treatment with nonsteroidal anti-inflammatory drugs and hormonal agents. The true prevalence of adolescent endometriosis is not clear. Delay in diagnosis leads to persistent pain, affects quality of life, and potentially contributes to disease progression and subfertility. A laparoscopic diagnosis is the gold standard, but the surgical appearance may differ from adults, as endometriotic lesions are usually red or clear, making their identification a challenge for gynecologists who are unexperienced with endometriosis in adolescents. A personalized medical-surgical treatment is regarded as the most effective therapeutic strategy to achieve remission of symptoms, suppress disease progression, and protect future fertility. Studies have demonstrated how adolescent endometriosis negatively affects patients' quality of life and psychosocial functioning. Development of therapeutic interventions targeting psychosocial function and quality of life is imperative for adolescent patients.