scholarly journals Association of Chromosomal Aberrations and Maternal Serum Progesterone Levels in First Trimester Miscarriages: A Case Series

2021 ◽  
Author(s):  
Paula Chiam ◽  
Cheryl Jia En Lim ◽  
John C. Allen ◽  
Kenneth Chang ◽  
Min Hwee Yong ◽  
...  
Keyword(s):  
Chromosomal Aberrations ◽  
Genetic Material ◽  
Case Series ◽  
Maternal Serum ◽  
Progesterone Level ◽  
Chromosomal Microarray ◽  
Serum Progesterone ◽  
Threatened Miscarriage ◽  
Increased Risk ◽  
Genetic Abnormalities

Abstract Fetal genetic aberrations constitute up to 50% of all early miscarriages, with aneuploidies accounting for the majority. Serum progesterone is useful in triaging women presenting with threatened miscarriage, and a low progesterone level has been associated with an increased risk of miscarriage. This study examined the association between chromosomal aberrations and maternal serum progesterone level measured at presentation with threatened miscarriage. In this prospective cohort study, we that recruited women who presented with threatened miscarriage and subsequently progressed to a complete miscarriage at or before 16 weeks of gestation. 9 patients with products of conception (POC) available were analysed. They were triaged at presentation based on their serum progesterone level and patients with a level < 35 nmol/L were treated with oral progestogen according to the hospital department protocol. Genetic material extracted from the POC was analysed with chromosomal microarray. In these 9 patients, most miscarriages (88%) were due to fetal genetic abnormalities and the most common genetic anomalies was trisomy (57%). Patients with abnormal POC karyotype had a low mean serum progesterone level of 24.0 ± 23.3 nmol/L. This level is much lower than the patient with a normal POC karyotype, who had a serum progesterone level of 42.9 nmol/L. The most common cause for miscarriages in this study was genetic anomalies and these affected patients had a low serum progesterone level (< 35 nmol/L). These patients miscarried despite treatment with oral progestogen, due to underlying fetal genetic abnormalities. Further studies should be conducted to validate the association between serum progesterone and genetic abnormalities and shed light on the etiologies and improve risk stratification for threatened miscarriage.

scholarly journals Maternal serum progesterone level in preeclampsia

2020 ◽  
Vol 13 (1) ◽  
pp. 9-12
Author(s):  
Shiuly Chowdhury ◽  
Jannatul Ferdous ◽  
Khadiza Nurun Nahar ◽  
Sharmeen Mahmood
Keyword(s):  
Maternal Serum ◽  
Progesterone Level ◽  
Serum Progesterone

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scholarly journals Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Jiamin Wang ◽  
Zhu Zhang ◽  
Qinqin Li ◽  
Hongmei Zhu ◽  
Yi Lai ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Chromosomal Aberrations ◽  
Copy Number Variants ◽  
Snp Array ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Increased Risk ◽  
Long Term Follow Up

AbstractVentriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide polymorphism (SNP) array testing and were subjected to long-term follow-up. The overall prevalence of chromosomal aberrations was 7.30% (40/548), including 4.20% (23/548) with pathogenic/likely pathogenic copy number variants. The incidence of chromosomal aberrations was significantly higher in foetuses with bilateral ventriculomegaly than in those with unilateral ventriculomegaly (10.56% vs. 5.71%, P = 0.040), in foetuses with non-isolated ventriculomegaly than in those with isolated ventriculomegaly (12.99% vs. 2.38%, P < 0.0001), and in foetuses with severe ventriculomegaly than in those with mild-to-moderate ventriculomegaly (23.08% vs. 6.51%, P = 0.005). The outcome in foetuses with mild ventriculomegaly was significantly better than in those with moderate ventriculomegaly (95.60% vs. 84.00%, P = 0.003). Thus, CMA should be regarded as the first-tier test for prenatal diagnosis of foetal ventriculomegaly, especially in foetuses with bilateral or non-isolated ventriculomegaly. The outcome of foetuses with mild ventriculomegaly is favourable; however, there is an increased risk of neurodevelopmental disabilities in foetuses with moderate ventriculomegaly.

Dental Implant Placement in Patients with a History of Medications Related to Osteonecrosis of the Jaws: A Systematic Review

2020 ◽  
Author(s):  
Judd Sher ◽  
Kate Kirkham-Ali ◽  
Denny Luo ◽  
Catherine Miller ◽  
Dileep Sharma
Keyword(s):  
Systematic Review ◽  
At Risk ◽  
Drug Therapy ◽  
Dental Implant ◽  
Case Series ◽  
Cochrane Central Register ◽  
Bisphosphonate Treatment ◽  
Implant Placement ◽  
Increased Risk ◽  
History Of

The present systematic review evaluates the safety of placing dental implants in patients with a history of antiresorptive or antiangiogenic drug therapy. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. PubMed, Cochrane Central Register of Controlled Trials, Scopus, Web of Science, and OpenGrey databases were used to search for clinical studies (English only) to July 16, 2019. Study quality was assessed regarding randomization, allocation sequence concealment, blinding, incomplete outcome data, selective outcome reporting, and other biases using a modified Newcastle-Ottawa scale and the Joanna Briggs Institute critical appraisal checklist for case series. A broad search strategy resulted in the identification of 7542 studies. There were 28 studies reporting on bisphosphonates (5 cohort, 6 case control, and 17 case series) and one study reporting on denosumab (case series) that met the inclusion criteria and were included in the qualitative synthesis. The quality assessment revealed an overall moderate quality of evidence among the studies. Results demonstrated that patients with a history of bisphosphonate treatment for osteoporosis are not at increased risk of implant failure in terms of osseointegration. However, all patients with a history of bisphosphonate treatment, whether taken orally for osteoporosis or intravenously for malignancy, appear to be at risk of ‘implant surgery-triggered’ MRONJ. In contrast, the risk of MRONJ in patients treated with denosumab for osteoporosis was found to be negligible. In conclusion, general and specialist dentists should exercise caution when planning dental implant therapy in patients with a history of bisphosphonate and denosumab drug therapy. Importantly, all patients with a history of bisphosphonates are at risk of MRONJ, necessitating this to be included in the informed consent obtained prior to implant placement. The James Cook University College of Medicine and Dentistry Honours program and the Australian Dental Research Foundation Colin Cormie Grant were the primary sources of funding for this systematic review.

scholarly journals Death Rate Due to COVID-19 in Alzheimer’s Disease and Frontotemporal Dementia

2020 ◽  
Vol 78 (2) ◽  
pp. 537-541
Author(s):  
Jordi A. Matias-Guiu ◽  
Vanesa Pytel ◽  
Jorge Matías-Guiu
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Dementia ◽  
Death Rate ◽  
Case Series ◽  
Care Homes ◽  
Relevant Factor ◽  
Increased Risk ◽  
Care Facilities ◽  
Probability Of Death

We aimed to evaluate the frequency and mortality of COVID-19 in patients with Alzheimer’s disease (AD) and frontotemporal dementia (FTD). We conducted an observational case series. We enrolled 204 patients, 15.2% of whom were diagnosed with COVID-19, and 41.9% of patients with the infection died. Patients with AD were older than patients with FTD (80.36±8.77 versus 72.00±8.35 years old) and had a higher prevalence of arterial hypertension (55.8% versus 26.3%). COVID-19 occurred in 7.3% of patients living at home, but 72.0% of those living at care homes. Living in care facilities and diagnosis of AD were independently associated with a higher probability of death. We found that living in care homes is the most relevant factor for an increased risk of COVID-19 infection and death, with AD patients exhibiting a higher risk than those with FTD.

scholarly journals NCMP-17. MISMATCH REPAIR MUTATIONS AND THE CENTRAL NERVOUS SYSTEM: A CASE SERIES OF GERMLINE MUTATIONS AND CNS MALIGNANCY

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii126-ii126
Author(s):  
Amber Ruiz ◽  
Jerome Graber
Keyword(s):  
Treatment Response ◽  
Mismatch Repair ◽  
Case Series ◽  
Germline Mutations ◽  
Molecular Characteristics ◽  
Loss Of Function ◽  
Dna Mismatch ◽  
Mutational Burden ◽  
Increased Risk ◽  
Tumor Mutational Burden

Abstract Our understanding of genetic predispositions for malignancy is continually evolving. One family of germline mutations well described in the literature is that of the DNA mismatch repair mechanism (MMR). Lynch syndrome (LS) is due to a loss of function mutation of several MMR genes- MSH2, MLH1, MSH6, and PMS2. Germline MMR mutations lead to microsatellite instability and loss of genomic integrity resulting in an increased risk for various cancers (colorectal, genitourinary, etc). LS may be as common as 1 in 400 people and some MMR mutations have been associated with gliomas. There is a paucity of information regarding frequency of glioma subtypes as well as tumor genetic and molecular characteristics which have important clinical implications. We describe a case series of 6 individuals with germline MMR mutations and brain tumors. Those with MSH2 and PMS2 mutations (n=3) developed glioblastomas at a mean age at diagnosis of 48 years. These tumors expressed MGMT hyper-methylation and high tumor mutational burden. Only one had IDH-1 mutation. Those with MLH1 mutations (n=3), did not develop gliomas. This raises the question of differential glioma subtype development based on MMR gene. It also highlights the possibility of Lynch-associated gliomas having more favorable treatment response due to MGMT methylation and potential response to immunotherapy based on high tumor mutational burden. Though the sample size is small, there appears to be a preponderance of women compared to men (5:1 respectively). Larger studies are needed to verify CNS involvement in germline MMR mutations. In doing so, we hope to identify factors that may influence clinical management and lead to a better understanding of treatment response and disease prognosis.

scholarly journals The value of serum progesterone level on day of human chorionic gonadotrophin administration / metaphase II oocyte ratio in predicting IVF/ICSI outcome in patients with normal ovarian reserve

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ahmad Mahran ◽  
Mohammed Khairy ◽  
Reham Elkhateeb ◽  
Abdel Rahman Hegazy ◽  
Ayman Abdelmeged ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Ovarian Response ◽  
Pregnancy Rates ◽  
Clinical Pregnancy ◽  
Progesterone Level ◽  
Receiver Operating Curve ◽  
Serum Progesterone ◽  
Predictive Values ◽  
Significant Difference ◽  
Assisted Reproduction Treatment

Abstract Background The clinical implication of the increased serum progesterone level on the day of HCG administration in assisted reproduction treatment (ART) is still controversial. The current study aimed to compare the predictive value of serum progesterone on day of HCG administration / metaphase II oocyte (P/MII) ratio on IVF/ ICSI outcome to serum progesterone (P) level alone and the ratio of serum progesterone/estradiol level (P/E2) ratio in prediction of pregnancy rates after ART. Material & methods Two hundred patients admitted to the IVF/ICSI program at Minia IVF center in Egypt in the period from October 2016 to May 2018 were included in this study. Serum Progesterone (P) and Estradiol (E2) levels were estimated on the day of HCG administration. The ratio between serum P and the number of MII oocytes (P/MII ratio) was calculated and the predictive values of the three parameters (P, P/E2 ratio and P/MII ratio) in prediction of cycle outcomes were measured. Results P/ MII oocyte ratio was significantly lower in patients who attained clinical pregnancy (n = 97) as compared with those who couldn’t whilst there was no significant difference in P and P/E2 ratio between the two groups. Using a cut off value of 0.125, the sensitivity and specificity of progesterone/ MII ratio in prediction of no pregnancy in IVF/ICSI were 75.7 and 77.1% respectively with the area under The Receiver operating curve (ROC-AUC) = 0.808. The respective values of the ROC-AUC for the P and P/E2 ratio were 0.651 and 0.712 with sensitivity and specificity of 71.2 and 73.5%for P level and of 72.5 and 75.3% for P/E2 ratio. Implantation or clinical pregnancy rates were significantly different between patients with high and low P/MII ratio irrespective of day of embryo transfer (day 3 or 5). Conclusions In patients with normal ovarian response, serum progesterone on day of HCG / MII oocyte ratio can be a useful predictor of pregnancy outcomes and in deciding on freezing of all embryos for later transfer instead of high progesterone level alone.

Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18

1999 ◽  
Vol 19 (5) ◽  
pp. 476-479 ◽  
Author(s):  
G. M. Lambert-Messerlian ◽  
D. N. Saller ◽  
M. B. Tumber ◽  
C. A. French ◽  
C. J. Peterson ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Progesterone

scholarly journals Adverse Pregnancy Outcomes by Degree of Maternal Serum Analyte Elevation: A Retrospective Cohort Study

2020 ◽  
Vol 10 (04) ◽  
pp. e369-e379
Author(s):  
Amanda Yeaton-Massey ◽  
Rebecca J. Baer ◽  
Larry Rand ◽  
Laura L. Jelliffe-Pawlowski ◽  
Deirdre J. Lyell
Keyword(s):  
Cohort Study ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Screening Program ◽  
Maternal Serum ◽  
Obstetric Complication ◽  
Patient Counseling ◽  
Increased Risk ◽  
Antenatal Management ◽  
Adverse Pregnancy

Abstract Objective The aim of this study was to evaluate rates of preterm birth (PTB) and obstetric complication with maternal serum analytes > 2.5 multiples of the median (MoM) by degree of elevation. Study Design Retrospective cohort study of singleton live-births participating in the California Prenatal Screening Program (2005–2011) examining PTB and obstetric complication for α-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin A (INH) by analyte subgroup (2.5 to < 6.0, 6.0 to < 10.0, and ≥ 10.0 MoM vs. < 2.5 MoM). Results The risk of obstetric complication increased with increasing hCG, AFP, and INH MoM, and were greatest for AFP and INH of 6.0 to <10.0 MoM. The greatest risk of any adverse outcome was seen for hCG MoM ≥ 10.0, with relative risk (RR) of PTB < 34 weeks of 40.8 (95% confidence interval [CI]: 21.7–77.0) and 13.8 (95% CI: 8.2–23.1) for obstetric complication. Conclusions In euploid, structurally normal fetuses, all analyte elevations > 2.5 MoM confer an increased risk of PTB and, except for uE3, obstetric complication, and risks for each are not uniformly linear. These data can help guide patient counseling and antenatal management.

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