Chromosomal anomalies of the fetus of pregnant women from settlements prone to technogenic pollution

Abstract Background To investigate the frequency of fetal chromosomal abnormalities among women with abnormal ultrasound, abnormal biochemical marker screening or noninvasive prenatal testing results, advanced maternal age, or history of miscarriage in southern China. Methods We retrospectively analyzed prenatal samples from pregnant women between 2015 and 2019. Conventional karyotyping was performed using GTG banding. Copy number variation sequencing was used when indicated to identify chromosomal abnormalities. Results A total of 2,318 prenatal samples (188 chorionic villus samples, 2,003 amniotic fluids, and 127 cord blood) were analyzed. The frequency of chromosomal abnormalities was 12.4% (288/2,318) in prenatal samples, and frequency in chorionic villus samples (23.9%) was higher than in amniotic fluids (13.5%) and in cord blood (5.0%; P < 0.001). Numerical anomalies were detected in 195 (8.4%) cases and the most common abnormality were trisomy 21 (103/2,318; 4.4%), trisomy 18 (31/2,318; 1.3%) and monosomy X (18/2,318; 0.8%). Sructural anomalies were found in 29 (1.3%) cases, rare anomalies such as deletions (4 cases), duplications (2 cases), and complex rearrangement (1 case), were detected. Two cases with common chromosomal polymorphisms, inv(9)(p11q12) and inv(9)(p11q13), associated with recurrent spontaneous abortion, were detected. Five fetuses had normal karyotypes and definite pathogenic copy number variations, with microdeletions at 16p13.11, 16p12.1 (2 cases), and 17p12 and a microduplication at 7q11.23; all had normal phenotypes after birth. Conclusion Our study indicated that fetal chromosomal anomalies can be detected in early gestation and provided valuable information for interpretation of chromosomal polymorphisms and copy number variations.

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The Presence of Mycotoxins in Human Amniotic Fluid

Toxins ◽

10.3390/toxins13060409 ◽

2021 ◽

Vol 13 (6) ◽

pp. 409

Author(s):

Karolina Gromadzka ◽

Jakub Pankiewicz ◽

Monika Beszterda ◽

Magdalena Paczkowska ◽

Beata Nowakowska ◽

...

Keyword(s):

High Risk ◽

Amniotic Fluid ◽

Pregnant Women ◽

Prenatal Screening ◽

Genetic Defects ◽

Chromosomal Anomalies ◽

Risk Characterization ◽

Fusarium Mycotoxins ◽

Human Amniotic Fluid ◽

Toxic Metabolites

Mycotoxin exposure assessments through biomonitoring studies, based on the analysis of amniotic fluid, provides useful information about potential exposure of mothers and fetuses to ubiquitous toxic metabolites that are routinely found in food and the environment. In this study, amniotic fluid samples (n = 86) were collected via abdominal amniocentesis at 15–22 weeks of gestation from pregnant women with a high risk of chromosomal anomalies or genetic fetal defects detected during 1st trimester prenatal screening. These samples were analyzed for the presence of the most typical Aspergillus, Penicillium and Fusarium mycotoxins, with a focus on aflatoxins, ochratoxins and trichothecenes, using the LC-FLD/DAD method. The results showed that the toxin was present in over 75% of all the tested samples and in 73% of amniotic fluid samples from fetuses with genetic defects. The most frequently identified toxins were nivalenol (33.7%) ranging from <LOQ to 4037.6 ng/mL, and aflatoxins (31.4%), including aflatoxin G1, ranging from <LOQ to 0.4 ng/mL. Ochratoxin A and deoxynivalenol were identified in 26.7% and 27.9% of samples, respectively. Bearing in mind the above, the detection of mycotoxin levels in amniotic fluid is useful for the estimation of overall risk characterization with an attempt to link the occurrence of fetal abnormalities with exposure to mycotoxins in utero.

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The Risk of Subsequent Miscarriage in Pregnant Women with Prior Polycystic Ovarian Syndrome: A Nationwide Population-Based Study

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18168253 ◽

2021 ◽

Vol 18 (16) ◽

pp. 8253

Author(s):

Mei-Lien Pan ◽

Li-Ru Chen ◽

Kuo-Hu Chen

Keyword(s):

Pregnant Women ◽

Polycystic Ovarian Syndrome ◽

Significant Risk ◽

Population Based ◽

Control Group ◽

Case Group ◽

Chromosomal Anomalies ◽

Research Database ◽

Metformin Treatment ◽

Ovarian Syndrome

Objective: To assess the risk of subsequent miscarriage in pregnant women with a prior diagnosis of polycystic ovarian syndrome (PCOS). Methods: Using a nationwide, population-based database (Taiwan National Health Insurance Research Database) during 1998–2012, the study retrieved 1,000,000 randomly-sampled insured citizens as research subjects. The women with a diagnosis of pre-pregnancy PCOS (n = 13,562) who had chromosomal anomalies, artificial abortion, inconsistent diagnoses, and who were initially diagnosed with PCOS at >45 or <15 year-old were excluded, respectively. The records of gynecologic ultrasonography and/or blood tests were checked to verify the accuracy of the diagnoses of both PCOS and miscarriage (ICD-9 CM codes). After pregnancy, every woman with prior PCOS was age-matched to four women without prior PCOS. Results: Pregnant women with prior PCOS (the case group; n = 1926) and those without prior PCOS (the control group; n = 7704) were compared. The incidence of subsequent miscarriage was much higher in the case group compared with the control group (33.80% vs. 4.09%, p < 0.0001). Logistic regression analysis revealed that the risk of subsequent miscarriage was significantly higher in the case group than the control group (odds ratio [OR] 11.98; 95% CI 10.34–13.87, p < 0.0001), and the result remained similar while adjusted with covariates (adjusted OR 11.97; 95% CI 10.27–13.95, p < 0.0001). In the case group, the patient who used metformin had a lower risk of subsequent miscarriage (adjusted OR 9.53; 95% CI 6.69–13.57) when compared with those who did not receive metformin treatment (adjusted OR 12.13; 95% CI 10.38–14.18). Conclusion: For pregnant women, a pre-pregnancy diagnosis of PCOS is an independent and significant risk factor for subsequent miscarriage. The risk of subsequent miscarriage is reduced by about 1/4 for the PCOS patients who undergo metformin treatment compared with those who do not.

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Late presentation of pregnant women with chromosomal abnormalities: A barrier to legal and safe abortions in Muslim majority countries

Journal of Analytical Research in Clinical Medicine ◽

10.15171/jarcm.2018.026 ◽

2018 ◽

Vol 6 (4) ◽

pp. 158-164

Author(s):

Simin Taghavi ◽

Hossein Alikhah ◽

Mohammad Mirza-Aghazadeh-Attari ◽

Sharareh Barband ◽

Sahar Mohammadi ◽

...

Keyword(s):

Pregnant Women ◽

Chromosomal Abnormalities ◽

Pregnancy Termination ◽

Single Gene ◽

Late Presentation ◽

Chromosomal Anomalies ◽

Cross Sectional ◽

Screening Programs ◽

Prenatal Diagnostic ◽

Islamic Countries

Introduction: In Islamic countries, the prenatal diagnostic procedures are planned considering legal and religious limitations. We aimed to evaluate the indications of presentation and problems related to religious and legal limitations for presentation of Muslim parents for prenatal screening of chromosomal abnormalities. Methods: A cross-sectional study was performed on consecutive 920 pregnant women presenting for screening of congenital and chromosomal anomalies to Educational Medical Centers of Tabriz University of Medical Sciences, Tabriz, Iran, between 2011 and 2015. Previously prepared questionnaire forms were utilized for collection of information from patients and their medical records. Results: In total, 153 cases had an indication for amniocentesis, and this procedure revealed that 141 fetuses (92.2%) did not have any congenital abnormalities, but 12 cases (7.8%) had some sort of abnormality, requiring pregnancy termination. These cases included 8 fetuses (5.2%) with trisomy and four (2.6%) with single gene diseases. Of 12 patients, the justifications for pregnancy termination were issued for 7 women by the provincial Legal Medicine Organization. However, the remaining 5 patients could not obtain legal justifications for termination of their pregnancies, mostly because of late presentation, obligating them to choose illegal methods for pregnancy termination. Conclusion: Regarding the legal and religious limitation of pregnancy termination after 18th week in Islamic countries, it is highly recommended that the first trimester screening programs be performed in Islamic countries in order to obtain early decision-making.

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Development of a Discrete Choice Experiment (DCE) questionnaire to elicit values by pregnant women and decision-makers for the expansion of a NIPS-based prenatal screening program

10.21203/rs.3.rs-1087750/v1 ◽

2021 ◽

Author(s):

Hung Manh Nguyen ◽

Carmen Lindsay ◽

Mohammad Baradaran ◽

Jason Robert Guertin ◽

Leon Nshimyumukiza ◽

...

Keyword(s):

Literature Review ◽

Pregnant Women ◽

Online Survey ◽

Prenatal Screening ◽

Screening Program ◽

Pilot Project ◽

Decision Makers ◽

Added Value ◽

Chromosomal Anomalies ◽

Care Providers

Abstract BackgroundIn an accountable world, being able to take into account the value given by relevant stakeholders to an intervention that could be offered to the population is considered as desirable. DCE is an approach particularly suited for the measurement of such values in the field of prenatal care. Yet, DCE studies in the field of prenatal screening have focused mainly on pregnant women and their care providers but have neglected another key actor, the decision-makers. The objective of the study was to develop a DCE instrument applicable to pregnant women and decision-makers, for the evaluation of new conditions to be added to a screening program for fetal chromosomal anomalies.MethodsAn instrument development study was undertaken. Methods employed included a literature review, a qualitative study performed on pregnant women and decision-makers, and a pilot project to validate the developed instrument and test the feasibility of its administration through an online survey platform. ResultsAn initial list of ten attributes and levels were built from the information provided by the literature review and the qualitative research component of the study. Seven attributes were built based on responses provided by participants from both groups. Two attributes were built from what was said by women only and one from what was said by decision-makers only. Search for consensus through consultations and a focus group discussion led to the retention of eight attributes. A pilot project was then performed with 33 pregnant women. This led to the exclusion of one attribute that showed poor influence on the choice making. The final version of the instrument contains seven attributes.ConclusionThis paper presents the construction of a DCE instrument that can be administered to pregnant women on the demand side, and decision-makers on the supply side. Such an instrument to measure the social desirability of an intervention could be an added value to the decision-making process of Health Technology Assessment agencies.

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The incidence and distribution of anomalies found in the pregnant women applied to Kayseri City Hospital for obstetric ultrasound in 2019: a retrospective analysis

Perinatal Journal ◽

10.2399/prn.21.0291009 ◽

2021 ◽

Vol 29 (1) ◽

pp. 54-62

Author(s):

Şadan Tutuş

Keyword(s):

Pregnant Women ◽

First Trimester ◽

Chromosomal Anomalies ◽

City Hospital ◽

Second Trimester ◽

Obstetric Ultrasound ◽

Medical Systems ◽

Third Trimester ◽

Fetal Screening

Objective Our aim is to determine the incidence and distribution of anomalies found in the pregnant women referred to the first obstetric radiology outpatient clinic of our hospital for ultrasound (US) examination in 2019. Methods A total of 5661 obstetric US examinations were performed in 4018 pregnant women, 588 of whom were foreigners, for routine control, follow-up and screening purposes between January 1 and December 31, 2019, and their results were analyzed retrospectively after obtaining the approval of ethics committee. All US examinations were conducted by a single radiologist (ŞT) with Canon Aplio 500 ultrasound device (Canon Medical Systems Corporation, Tokyo, Japan) using 3.5 Mhz convex probe. The results of the cases with anomalies were accessed and grouped systematically, and their incidence and distribution were reviewed by comparing with the literature. Results As a result of the reviewed obstetric US examinations, a total of 62 fetuses with anomalies, 17 of whom were from the foreign pregnant women, were found to have anomalies. Of these anomalies, 29 were craniospinal, 10 were genitourinary, 6 were cardiac, 6 were skeletal, 3 were gastrointestinal, 2 were thoracic and 6 were unclassified. The pregnant women were between 17 and 43 (27.5±7.21) years old and their weeks of gestation were varying between 11 and 39 (22.3±8.63) weeks. There were 8 (13%) pregnant women younger than 20 years old, 43 (69%) pregnant women between 20 and 35 years old, and 11 (18%) pregnant women older than 35 years old. Anomaly diagnosis was established during first trimester in 14 (22.5%) fetuses, 26 (42%) fetuses during second trimester, and 22 (35.5%) fetuses during third trimester. Conclusion We found in our study that the incidence of fetuses with congenital anomaly was 1.54% in total, 2.89% in foreigners and 1.31% in Turkish citizens. The most common anomaly is acrania with 7 (0.15%) cases, and the diagnosis was established during first trimester in six of them. Detailed fetal screening during first trimester is very important for the detection of non-chromosomal anomalies. However, second- and third-trimester examinations are also important for the accurate diagnosis in pregnancies without follow-up.

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