Interstitial deletion of the proximal short arm of chromosome 10 represents a rare genetic alteration. Literature review revealed that only 10 postnatal diagnosed clinical cases with deletions overlapping 10p12p11 were published until present. We report the first prenatal diagnosis and postnatal findings in a male fetus with a 10.6 Mb interstitial deletion of the short arm of chromosome 10 (10p11.22-p12.31).
The appearance of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been a major obstacle for the performing of current medical activities throughout the world. COVID-19 has affected humanity in many ways, thus causing a great medical, social, economic, and political instability. The aim of this study was to make an analysis of the scientific data obtained by so far to highlight the impact that COVID-19 has had on fertility and assisted reproductive technology (ART). Infection with SARS-CoV-2 alters the normal immune response by local and systemic damage to tissues and organs. After the virus enters the body, the first lesions are produced in the respiratory tract. Extrapulmonary lesions specific to COVID-19 include acute renal lesions/acute kidney damage, hepatocellular lesions, neurological diseases, myocardial dysfunction and arrhythmia, gastrointestinal diseases but also genital impairment. The possible impairment of the male reproductive system is because angiotensin-converting enzyme 2 (ACE2) receptors are in an increased number in the testes, seminiferous duct cells, spermatogonia, Leydig cells and Sertoli cells. Many published studies to date have pointed out that COVID-19 could also affect female fertility and disrupt the functions of the female reproductive system. The theory that this virus can also be transmitted sexually and can cause infertility or testicular damage is supported by the fact that the virus can be isolated in the semen of COVID-19 patients but only during the disease. Choosing the best method of treating infertility during the COVID-19 pandemic is multifactorial, but the risk of infection and compliance with specific ART hygiene protocols must always be considered. Currently, there is no scientific basis regarding the fact that the COVID-19 vaccination would influence fertility.
Abnormalities of the umbilical cord, related to morphology, placental insertion, number of vessels and primary tumors, can influence the perinatal outcome and may be associated with other fetal anomalies and aneuploidies. The chapter investigates the most important congenital anomalies of this structure. Single umbilical artery appears to be associated with ventricular septal defects and conotruncal anomalies, hydronephrosis, dysplastic kidneys, esophageal atresia, spina bifida, holoprosencephaly, diaphragmatic hernia, and cystic hygromas. Velamentous insertion of the cord can be associated with trisomy 21, spina bifida, ventricular septal defects, and esophageal atresia. A hypoplastic umbilical artery has an artery-to-artery diameter difference of more than 50%; described anomalies include trisomy 21, polyhydramnios, congenital heart disease, and fetal growth restriction. Pseudocysts are more common than true cysts, and they are strongly associated with chromosomal defects and other congenital anomalies, especially omphalocele, hydrops, and trisomy 18. Other benign masses are teratomas, angiomyxomas, and patent urachus. Alterations in morphology and ultrastructure of the umbilical cord should extend the investigation, since there are associations with chromosomal anomalies.
Thrombophilia is a disorder that makes patients susceptible to intravascular thrombosis that may increase the risk of developing a pregnancy on a known pathology. The female patient diagnosed with hypoplastic uterus and hereditary thrombophilia had a favorable evolution under properly administered anticoagulant treatment. The homozygous status for the C677T mutation may lead to an increase in plasma homocysteine levels, especially in pregnant women, being an associated risk factor for thrombosis. The risk of developing intravascular thrombosis requires primary prevention measures by adding D-dimers in the early diagnostic algorithm, being the most accurate marker of hypercoagulability and endogenous fibrinolysis. The corroboration of the hypercoagulability status with the results of genotyping, the frequencies of the minor/major alleles studied, single mononucleotide polymorphisms (SNPs) and the establishment of preventive therapy, aims to prevent intravascular thrombosis and thromboembolic phenomena.
Background: Preeclampsia (PE), one of the classes of hypertensive pregnancy disorders, is one of the three causes of maternal morbidity and mortality worldwide. The angiogenic and anti-angiogenic factors are useful markers in predicting and diagnosing PE. Aim: This study aims to detect and measure the serum level of some biomarkers [hypoxia-inducible factor-1 subunit alpha (HIF-1A), vascular endothelial growth factor (VEGF), interferon-gamma-inducible protein of 10 kDa (IP-10), matrix metalloproteinase-13 (MMP-13)] in patients with PE and their correlation with the severity of the disease, to find a good predictor for PE. Patients, Materials and Methods: This prospective study aims to monitor 48 pregnant women who address obstetric consultation and who present risk factors for PE, and a control group with characteristics similar to the study group. Patients were divided into three groups: Group I (n=15) including normal pregnant (NP) women with blood pressure <140/90 mmHg, without proteinuria, Group II (n=18) including patients with mild PE (MildPE), Group III (n=15) including patients with severe PE (SeverePE). The analysis of serum biomarkers was based on a quantitative sandwich enzyme-linked immunosorbent assay (ELISA), according to the manufacturer's instructions. Results: In our study, we found that all biomarkers investigated have higher concentrations in the serum of patients with SeverePE and MildPE than those in the control subjects (Group I, NP), the concentrations were increasing along with the disease activity. The means concentrations of HIF-1A, VEGF, IP-10, MMP-13, better correlated with indices in SeverePE group than in MildPE group. We found that VEGF was the biomarker that best correlates with indices that assess the severity of PE. The best separation of patients with SeverePE from those with MildPE can be done with the help of MMP-13 (82% accuracy), followed by VEGF (80.40% accuracy) and the least good detection being done by dosing IP-10. Conclusions: We can say that, due to high specificity diagnostic accuracy, determination of serum concentrations of MMP-13 and VEGF, could be useful in the diagnosis and distinguishing of patients with SeverePE and may prove useful in the monitoring of the disease course.
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