Influence of human Papilloma Virus (hPV) infection on early pregnancy

Objectives: HPV infection in early pregnancy may be a cause of miscarriage. Pregnancy significantly increases the risk of HPV infection. While ascending intrauterine infection with colonization of the trophoblast is commonly observed, descend- ing hematogenous infection should also be considered.  The aim of the study is to assess the prevalence of HPV infection and its influence on pregnancy.  Material and methods: The study was conducted in the years 2010–2015 on a group of 143 pregnant women. The study group consisted of 84 women with abnormal course of the first trimester of pregnancy. The control group consisted of 59 women with normal pregnancy who delivered healthy neonates. Samples of cervix tissue along with samples of tropho- blast or placenta were taken for the study. The presence and genotype of the HPV virus were detected using a BIOTOOL B&M Labs set. Statistical analysis was conducted using R software.  Results: The rate of HPV infection in the entire studied population was 13% (19/143): the virus was confirmed in 18% (15/84) of patients in the study group and in 7% (4/59) of the control group. HR HPV was detected in 13 patients in the study group and three patients in the control group. HR HPV infection was more frequent in patients with an abnormal course of the first trimester of pregnancy (p = 0.03). HR HPV trophoblast infection was found only in patients in the study group (p = 0.02). In two members of the study group, the HPV virus was found in the trophoblast only.  Conclusions:  The obtained results may confirm the presence of adverse effects of HPV infection on early pregnancy.  HR HPV trophoblast infection was observed only in women with 1st trimester complications.  The presence of HPV only in trophoblast samples in some patients may suggest a descending — hematogenous route of primary infection

The absence of fetal nasal bones in ultrasound examination between 11 + 0 and 13 + 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13

Objectives: One part of the ultrasound examination of fetuses in the first trimester of gestation is visualization of the nasal bones. Numerous studies have demonstrated a correlation between the absence of nasal bones and abnormal fetal karyotype. Aim: To assess the utility of ultrasound visualization of nasal bones during the first trimester of pregnancy as a marker of the most common chromosomal trisomies. Material and methods: Ultrasound visualization of nasal bones was carried out in 941 fetuses from a high-risk group between 11 + 0 and 13 + 6 weeks of gestation. Amniocentesis was performed to determine karyotype in all 941 cases. Results: Normal fetal karyotype was observed in 847 cases, trisomy 21 in 45 cases, trisomy 18 in 16 cases and trisomy 13 in 10 cases. Other abnormal karyotypes were detected in the remaining 23 cases. The absence of nasal bones demonstrated 27% sensitivity, 97% specificity and a positive predictive value of 35% as an indicator of trisomy 21 in the study group, and 12% sensitivity, 97% specificity and 12% positive predictive value for trisomies 18 and 13. Conclusions: The absence of nasal bones in ultrasound examination in the first trimester of pregnancy is characterized by low sensitivity and high specificity as a marker of the most common trisomies. Visualization of fetal nasal bone is a poor marker of aneuploidy and should not be taken into account in risk calculation algorithms

Streptococcus mutans in the oral cavity as a risk factor for threatened miscarriage

Objectives: The aim of this study was to investigate the bacterial colonization of the oral and vaginal ecosystem in pregnant women during the first trimester of pregnancy. Material and methods: We analyzed 162 pregnant women, (99 women with threatened abortion and 63 women with healthy pregnancies). We collected oral and vaginal swabs, using PCR analysis to assess the presence of various bacteria (S. mutans, E. faecalis, E. coli, Lactobacillus acidophilus, Prevotella intermedia, Gardnerella vaginalis, S. agalactiae). Results: Results showed that the presence of Streptococcus mutans in the oral cavity was significantly more common in women with threatened abortion compared to those with healthy pregnancies (p = 0.046). The presence of Lactobacillus acidophilus in the vagina was significantly more common in women with healthy pregnancies (p = 0.041). Conclusions: Our study suggests that the presence of Streptococcus mutans in the oral cavity may be a risk factor for threatened abortion

Zastosowanie testu oceny wolnego DNA płodu w diagnostyce prenatalnej na podstawie rekomendacji Polskiego Towarzystwa Ginekologicznego i Polskiego Towarzystwa Genetyki Człowieka — uwagi praktyczne

Ocena wolnego płodowego DNA w krwiobiegu matki to nowy rodzaj nieinwazyjnej diagnostyki prenatalnej. Celem pracy jest omówienie zastosowania tej techniki w codziennej praktyce lekarskiej

Genetic causes of recurrent miscarriages

Recurrent miscarriage is an important problem in reproductive health, which affects 1–5% of couples. The aim of this article is to summarize current knowledge on the genetic causes of recurrent miscarriage. It presents the most common parental genetic disorders (karyotype abnormalities, recessive diseases carrier status, dominant diseases and thrombophilia) connected with recurrent pregnancy loss, as well as research into other possible genetic causes. This review also sets out to demonstrate changes in the embryonic/fetal genome that may lead to abortions, and discusses the methods used to assess miscarried material, together with their advantages and disadvantages. Knowledge of the genetic background of miscarriages is important for prognosis, as well as the potential planning of prenatal diagnostics in subsequent pregnancies

Association of single nucleotide polymorphism (rs741301) of the ELMO1 gene with diabetic kidney disease in Polish patients with type 2 diabetes: a pilot study

Introduction: Multifactorial pathogenesis of diabetic kidney disease (DKD) consists of a combination of metabolic, environmental, and genetic factors. A genome-wide association study has shown that ELMO1 is a candidate gene for DKD occurrence and progression. The aim of this study was to assess the association of a single nucleotide polymorphism (rs741301) of the ELMO1 gene with DKD in Polish patients with type 2 diabetes (T2DM). Material and methods: This was a case/control study of 272 T2DM patients with or without DKD. Patients were divided into groups depending on DKD definition according to the American Diabetes Association (ADA) and the National Kidney Foundation (NKF). The association of the rs741301 polymorphism with DKD was assessed in the whole study group as well as in the subgroups stratified according to the presence of DKD. Results: There was no association between rs741301 polymorphisms and the presence of DKD in relation to the ADA definition (p = 0.6) or the NKF definition (p = 0.5) of DKD and with estimated glomelural filtration rate (eGFR) value reflecting the stage of the chronic kidney disease (p = 0.8). Conclusions: Even though the results of this study are negative, there is still a great need for larger studies assessing the genetic susceptibility to DKD to identify patients who are particularly prone to this complication

A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

Wstęp: Mutacje w genie receptora androgenowego (AR, Androgen Receptor) są najczęstszą przyczyną zaburzeń różnicowania płci (DSD,Disorders of Sex Development) powodującą zespół niewrażliwości na androgeny (AIS, Androgen Insensitivity Syndrome). Chorzy wykazująznaczną różnorodność fenotypu: od żeńskiego (CAIS, Complete Androgen Insensitivity syndrome) przez niecałkowicie męski (PAIS, PartialAndrogen Insensitivity Syndrome) aż do prawidłowo zbudowanych niepłodnych mężczyzn (MAIS, Mild Androgen Insensitivity Syndrome).W pracy przedstawiamy wyniki badań klinicznych, endokrynologicznych oraz molekularnych pacjentki hospitalizowanej z powodupierwotnego braku miesiączki z typowymi cechami zespołu niewrażliwości na androgeny.Materiał i metody: Celem badań było określenie podłoża molekularnego zespołu niewrażliwości na androgeny u kobiety 46,XY. Przeprowadzonoanalizę molekularną genu AR z zastosowaniem metod: MSSCP (Multitemperature Single Strand Conformation Polymorphism)oraz sekwencjonowania.Wyniki: Analiza polimorfizmu konformacji pojedynczych nici DNA w gradiencie temperatury wykazała zmianę ruchliwości elektroforetycznejw egzonie 8 genu AR. W wyniku sekwencjonowania egzonu 8 wykryto mutację punktową typu missens. Mutacja, dotychczasnie opisywana, ma charakter tranzycji c.T3816 > C i powoduje zmianę S901P w łańcuchu aminokwasowym (w oparciu o najnowsząsekwencję referencyjną NCBI, NM 000044.2).Wnioski: Stwierdzenie nowej mutacji, c.T3816 > C w genie AR jest kolejnym dowodem potwierdzającym związek mutacji AR z fenotypemzespołu niewrażliwości na androgeny. (Endokrynol Pol 2013; 64 (5): 398–402)Introduction: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), andare associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS)to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild AndrogenInsensitivity Syndrome or MAIS).In this paper, we present the results of clinical, endocrine and molecular trials in a patient hospitalised because of primary amenorrhoeawith typical phenotype of CAIS.Material and methods: The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome ina 46,XY female patient. Molecular analysis of the AR gene was conducted using MSSCP (Multitemperature Single Strand ConformationPolymorphism) and sequencing methods.Results: MSSCP analysis showed changes in electrophoretic mobility in exon 8 of the AR gene. Sequencing analysis revealed a missensemutation which has not been previously described. This is a c.T3816 > C transition mutation which causes a S901P substitution in theamino acid chain (based on the latest NCBI reference sequence NM 000044.2).Conclusions: The identified c.T3816 > C mutation in AR gene provides further evidence for the correlation between specific AR mutationsand phenotype corresponding to androgen insensitivity.(Endokrynol Pol 2013; 64 (5): 398–402

The impact of the COVID-19 pandemic on the course of miscarriages

Objectives: Miscarriage is the most common complication of pregnancy. Infections are well-known causes of pregnancy loss. It has been suggested that infection with SARS-CoV-2 virus may also have an adverse effect on the course of early pregnancy, causing miscarriage. Aim:  To assess the impact of the COVID-19 pandemic on pregnancy loss during the first half of pregnancy. Material and methods: The clinical records of patients hospitalized at the Department of Fetal Medicine and Gynecology; Medical University of Lodz were retrospectively reviewed. The study was done during the pandemic (March 2020 to the end of March 2022) and the previous 2 years due to missed abortion, indicated by no fetal heartbeat and spontaneous (complete or incomplete) abortion with vaginal bleeding. Results: While 682 women were hospitalized due to miscarriage in the first half of pregnancy in the period 2018–2020, there were 516 hospitalized during the pandemic. No differences in the proportion of missed and spontaneous abortions with bleeding were found between the group of patients before and during the epidemic SARS CoV-2. COVID-19 exposure appears to have an impact on earlier pregnancy loss. Conclusions: There is no evidence that the COVID-19 pandemic predisposes to the abnormal course of pregnancy in its first half. Objectives: Miscarriage is the most common complication of pregnancy. Infections are well-known causes of pregnancy loss. It has been suggested that infection with SARS-CoV-2 virus may also have an adverse effect on the course of early pregnancy, causing miscarriage. Aim:  To assess the impact of the COVID-19 pandemic on pregnancy loss during the first half of pregnancy. Material and methods: The clinical records of patients hospitalized at the Department of Fetal Medicine and Gynecology; Medical University of Lodz were retrospectively reviewed. The study was done during the pandemic (March 2020 to the end of March 2022) and the previous 2 years due to missed abortion, indicated by no fetal heartbeat and spontaneous (complete or incomplete) abortion with vaginal bleeding. Results: While 682 women were hospitalized due to miscarriage in the first half of pregnancy in the period 2018–2020, there were 516 hospitalized during the pandemic. No differences in the proportion of missed and spontaneous abortions with bleeding were found between the group of patients before and during the epidemic SARS CoV-2. COVID-19 exposure appears to have an impact on earlier pregnancy loss. Conclusions: There is no evidence that the COVID-19 pandemic predisposes to the abnormal course of pregnancy in its first half

Prenatal karyotype results from 2169 invasive tests

Objectives: Foetal karyotyping is a basic tool used to diagnose the most common genetic syndromes. Although new molecular methods such as FISH, MLPA or QF-PCR allow rapid prenatal testing, they are of limited value when diagnosing less frequent chromosomal abnormalities. Chromosomal microarray analysis offers higher test resolution than traditional karyotyping and has been recommended as first-line genetic testing in prenatal diagnosis. The aim of the study was to confirm whether foetal karyotyping remains a valid approach to prenatal diagnosis by analysing its performance in a large population of pregnant women with a high risk of chromosomal aberration. Material and methods: An analysis was performed of 2169 foetal karyotypes from two referral university centres for prenatal diagnostics in Lodz, Poland. Results: Amniocentesis and foetal karyotyping were performed when screening methods had indicated a high risk of chromosomal aberration, or when prenatal ultrasound had proved foetal abnormality. The study group included 205 (9.4%) abnormal foetal karyotypes. Rare aberrations were observed in 34 cases (e.g., translocations, inversions, deletions and duplication). A marker chromosome was present in five cases. Conclusions: One third of the chromosomal abnormalities observed in the prenatal tests were rarer aberrations (i.e., not trisomy 21, 18 or 13). As many of these could not be detected by the new molecular methods, foetal karyotyping remains an important component of prenatal diagnosis