Article
Obstetrics & Gynecology
Samantha Kegel, Paola Abi Habib, Lindsey Seger, Ozhan M. Turan, Sifa Turan
Summary: This study investigated the relationship between gestational age at diagnosis and reproductive choices in fetuses with single-ventricle cardiac defects. The results indicated that termination of pregnancy was more common when the defect was diagnosed earlier in pregnancy, as early diagnosis enables parents to make deliberate and informed decisions.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2023)
Article
Obstetrics & Gynecology
Fionnuala Mone, Samantha Doyle, Asfa Ahmad, Hala Abu Subieh, Susan Hamilton, Stephanie Allen, Tamas Marton, Denise Williams, Mark D. Kilby
Summary: Consanguineous couples, especially of Pakistani ethnicity, tend to have lower uptake of prenatal testing and higher risks of fetal anomaly recurrence and perinatal death. Despite advancements in genomic sequencing technologies, they are less likely to reach a unifying diagnosis due to lower acceptance of prenatal invasive testing. Proactive genetic counseling and education are needed to optimize reproductive choices for consanguineous couples.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)
Article
Medicine, Research & Experimental
Longwei Qiao, Bin Zhang, Xiaojuan Wu, Chunhua Zhang, Ying Xue, Hui Tang, Haoyu Tang, Jingye Shi, Yuting Liang, Bin Yu, Ting Wang
Summary: The study demonstrated that the size-selection enrichment method can help detect fetal chromosomal aneuploidy in early pregnancy loss, especially after 7 weeks of gestation, with a success rate of 100%. This method reduces false negatives and increases test success rate, making it suitable for patients in early pregnancy loss.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Integrative & Complementary Medicine
Chan Li, Lijuan Xiao, Li Tang, Daidi Zeng, Suran Huang
Summary: The combination of QF-PCR and ultrasound in early pregnancy can effectively improve the accuracy of prenatal diagnosis of fetal chromosomal aneuploidy, especially for high-risk pregnant women, providing a feasible detection method for clinical practice.
ALTERNATIVE THERAPIES IN HEALTH AND MEDICINE
(2023)
Article
Obstetrics & Gynecology
Britton D. Rink, Blair K. Stevens, Mary E. Norton
Summary: Cell-free DNA technology is widely used in screening, diagnosis, and treatment of various diseases. The similarity between placental physiology and tumor development can lead to false-positive results for maternal malignancy in cell-free DNA screening. There is currently no consensus guideline for counseling and evaluation of patients with concerns about malignancy from cell-free DNA testing. Furthermore, laboratories differ in reporting policies and strategies. It is important for ordering practitioners to understand the policies of their chosen laboratory in order to provide appropriate genetic counseling. Pretest counseling should explain the potential for unexpected or nonreportable findings, while posttest counseling should include a discussion of possible fetal or maternal diagnoses, including malignancy.
OBSTETRICS AND GYNECOLOGY
(2022)
Article
Acoustics
T. Spingler, J. Sonek, M. Hoopmann, N. Prodan, H. Abele, K. O. Kagan
Summary: This retrospective study assessed the risk of complications in women undergoing termination of pregnancy for fetal defects and found that the risk increases with advancing gestational age.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Environmental Sciences
Huazhang Miao, Haisheng Wu, Yingxian Zhu, Lei Kong, Xiaolin Yu, Qinghui Zeng, Yuliang Chen, Qingying Zhang, Pi Guo, Dong Wang
Summary: Exposure to temperature variability during the fetal organogenesis period of pregnancy is associated with an increased risk of major congenital defects, particularly isolated defects and cardiac defects. The effects of temperature variability were most pronounced during the 5th week of gestation.
SCIENCE OF THE TOTAL ENVIRONMENT
(2021)
Article
Public, Environmental & Occupational Health
Yanqiu Ou, Michael S. Bloom, Jinzhuang Mai, Melissa Francois, Wei Pan, Xiaohua Xiao, Ximeng Wang, Zhiqiang Nie, Yanji Qu, Xiangmin Gao, Yong Wu, Xiaoqing Liu, Jian Zhuang, Jimei Chen
Summary: This provincial program aimed to improve prenatal diagnosis rates for congenital heart diseases (CHDs) in an unselected population. The program combined government investment and a specialized cardiac center. Results showed that the program led to a significant increase in the prenatal diagnosis rate for major CHDs and a decrease in the rate of pregnancy termination for minor CHDs. These findings highlight the importance of such a program in improving outcomes for CHD patients.
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Obstetrics & Gynecology
Ozge Ozdemir, Figen Aksoy, Cihat Sen
Summary: This study evaluated the agreement and disagreement between prenatal ultrasound and fetal autopsy findings in pregnancy terminations due to urogenital anomalies. The results showed that fetal autopsy can provide valuable complementary information for prenatal diagnosis, which is important for future pregnancy management and counseling of parents.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2022)
Article
Obstetrics & Gynecology
Kurt R. Bjorkman, Sarah H. Bjorkman, Dina J. Ferdman, Anna K. Sfakianaki, Joshua A. Copel, Mert Ozan Bahtiyar
Summary: The study on incidence of congenital heart defects in pregnancies conceived by IVF shows that there is no significant difference compared to baseline population rates, with most defects being clinically insignificant. Routine fetal echocardiography screening in all IVF pregnancies is not recommended unless other risk factors are present.
FERTILITY AND STERILITY
(2021)
Article
Pediatrics
I. Papunen, T. Poutanen, K. Ylanen
Summary: The aim of this study was to assess undiagnosed congenital heart defects (CHD) in newborns with murmur or suspicion of CHD after hospital discharge, identify predictive signs for CHDs, and estimate examination costs. Retrospective medical records of 490 referred patients were reviewed. Of the patients, 13% had abnormal echocardiography, but no ductal-dependent or cyanotic CHDs were found. Clinical signs indicating CHDs were high-grade murmur and harsh murmur. Abnormal electrocardiography did not indicate CHD. The total cost of the examinations was 259,700 (currency unknown), with 59% of the studies being assessed as benign. Conclusion: Only a few CHDs were found after newborn hospital discharge among patients who received screening and were examined for CHD suspicion, leading to unnecessary healthcare costs due to a high number of benign murmurs.
Article
Obstetrics & Gynecology
Shuang Gao, Jiancheng Han, Shaomei Yu, Yong Guo, Yanping Ruan, Yuwei Fu, Xiaoyan Hao, Xin Wang, Siyu Wang, Xiaoxue Zhou, Jianfeng Shang, Ye Zhang, Tianjing Li, Xiuxiu Hao, Yihua He
Summary: The study found that fetal echocardiographic diagnoses were mostly consistent with autopsy findings, with discrepancies mainly consisting of rare cases and minor abnormalities missed or misdiagnosed by FE.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2021)
Article
Obstetrics & Gynecology
Mengyao Ni, Xiangyu Zhu, Wei Liu, Leilei Gu, Yujie Zhu, Peixuan Cao, Yan Gu, Yan Xu, Chenyan Dai, Xing Wu, Ying Yang, Chunxiang Zhou, Jie Li
Summary: This study aimed to investigate the incidence of chromosome anomalies in different types of congenital gastrointestinal obstruction and assess the pregnancy outcomes of fetuses with congenital gastrointestinal obstruction. A total of 64 cases were enrolled and divided into three groups. The results showed different rates of chromosome anomalies in each group. A promising prognosis is expected for fetuses with congenital gastrointestinal obstruction after excluding genetic abnormalities.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Obstetrics & Gynecology
Jenni Kinnunen, Hilkka Nikkinen, Elina Keikkala, Sanna Mustaniemi, Mika Gissler, Hannele Laivuori, Johan G. Eriksson, Risto Kaaja, Anneli Pouta, Eero Kajantie, Marja Vaarasmaki
Summary: There is an association between gestational diabetes mellitus (GDM) and congenital anomalies (CAs) in offspring. Babies exposed to GDM have a higher risk of major CAs. Other risk factors, such as older maternal age and higher pre-pregnancy BMI, contribute to the increased prevalence of major CAs in GDM-exposed group.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Obstetrics & Gynecology
Lun Wei, Jiakai Zhang, Ningxian Shi, Chao Luo, Le Bo, Xuanping Lu, Shasha Gao, Caiping Mao
Summary: This study aims to investigate the correlation between maternal risk factors and fetal aneuploidy, as well as their impact on the accuracy of prenatal aneuploidy screening. The results showed that pregnant women below the age of 20 and above the age of 40 had a higher risk of fetal aneuploidy, with older women more likely to have T13 and T18 abnormalities. A history of fetal malformations was more likely to result in T18 abnormalities compared to recurrent spontaneous abortion. Primary screening successfully identifies normal karyotypes, while non-invasive prenatal testing accurately screens for fetal aneuploidy. Maternal risk factors such as age, premature testing, and a history of in vitro fertilization and embryo transfer (IVF-ET) may influence the accuracy of non-invasive prenatal testing diagnosis.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Obstetrics & Gynecology
Richard Spacek, Ivana Musilova, Ctirad Andrys, Ondrej Soucek, Hana Burckova, Jan Pavlicek, Lenka Pliskova, Radka Bolehovska, Marian Kacerovsky
Summary: The levels of granzyme A in amniotic fluid are associated with microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation (IAI) in pregnancies complicated by preterm prelabor rupture of membranes (PPROM). Women with MIAC have lower levels of granzyme A, while women with sterile IAI have higher levels of granzyme A in their amniotic fluid.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Acoustics
Tomas Zaoral, Peter Kordos, Marketa Nowakova, Borek Travnicek, Jana Zapletalova, Jan Pavlicek
Summary: This study provides reference values for sonographic measurements of inferior vena cava diameter in euvolemic children and may greatly assist in assessing fluid status in sick children.
ULTRASCHALL IN DER MEDIZIN
(2022)
Article
Engineering, Biomedical
Petr Vrtel, Radek Vrtel, Eva Klaskova, Dita Vrbicka, Katerina Adamova, Jan Pavlicek, Vaclav Hana, Vaclav Hana, Ondrej Soucek, Veronika Stara, Jan Lebl, Marta Snajdrova, Jirina Zapletalova, Tomas Furst, Sabina Kapralova, Zdenek Tauber, Eva Krejcirikova, Marketa Routilova, Julia Stellmachova, Radek Vodicka, Martin Prochazka
Summary: The study aimed to investigate the influence of parental origin of the X chromosome on selected phenotype associated with Turner syndrome in patients. Results from a group of 45,X patients verified by native FISH showed no correlation between parental origin of the X chromosome and observed symptoms.
BIOMEDICAL PAPERS-OLOMOUC
(2022)
Article
Obstetrics & Gynecology
Jan Pavlicek, Eva Klaskova, Dana Salounova, Hana Tomaskova, Alicja Piegzova, Tomas Gruszka, Marian Kacerovsky
Summary: The study aimed to develop a nomogram for the area of the right atrium in uncomplicated singleton pregnancies and assess its diagnostic indices in distinguishing tricuspid regurgitation patients with or without congenital heart defects. Results suggest that ARA can be an auxiliary marker to differentiate the presence of CHD in fetuses with TR.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Correction
Acoustics
Tomas Zaoral, Peter Kordos, Marketa Nowakova, Borek Travnicek, Jana Zapletalova, Jan Pavlicek
ULTRASCHALL IN DER MEDIZIN
(2021)
Article
Engineering, Biomedical
Hana Wiedermannova, Peter Mudry, Jan Pavlicek, Hana Tomaskova, Andrea Hladikova, Hana Palova, Petra Vesela, Ondrej Slaby, Jaroslav Sterba
Summary: This study aimed to determine the incidence and risk factors of neoplastic diseases in the early stages of life. The results identified medications used by the mother before or during pregnancy and genetic diseases as the highest risk factors for early childhood tumors.
BIOMEDICAL PAPERS-OLOMOUC
(2023)
Article
Pediatrics
Jan Pavlicek, Eva Klaskova, Sabina Kapralova, Alzbeta Moravova Palatova, Alicja Piegzova, Richard Spacek, Tomas Gruszka
Summary: This study found that murmur and cyanosis are the most common symptoms of severe congenital heart defects that go undetected prenatally, with most children diagnosed during the neonatal period. However, a portion of patients are discharged from the hospital after birth with undiagnosed defects.
Article
Endocrinology & Metabolism
Jan Pavlicek, Ondrej Soucek, Radek Vrtel, Eva Klaskova, Vaclav Hana, Veronika Stara, Katerina Adamova, Tomas Furst, Vaclav Hana Jr, Sabina Kapralova, Martin Prochazka, Marta Snajderova, Hana Tomaskova, Zbynek Tudos, Dita Vrbicka, Petr Vrtel, Jirina Zapletalova, Zdenek Tauber, Jan Lebl
Summary: This study compared FISH karyotyping with classical karyotyping in Turner syndrome patients and found that FISH analysis can determine the fraction of 45,X cell line, but it lacks predictive power for the phenotype. Additionally, FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Review
Obstetrics & Gynecology
Radana Kahankova, Katerina Barnova, Rene Jaros, Jan Pavlicek, Vaclav Snasel, Radek Martinek
Summary: Pregnant women are at high risk during the COVID-19 pandemic, both physically and mentally. Remote home monitoring solutions can improve their mental health and reduce the risk of infection. The commonly used cardiotocography technique is not suitable for continuous home monitoring. Therefore, it is necessary to find an advanced technology for safe and accurate fetal monitoring.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Pediatrics
Jakub Cubik, Stanislav Kepak, Hana Wiedermannova, Adela Vrtkova, Hana Burckova, Pavla Zarubova, Carlos Fernandez, Jan Pavlicek, Jan Jargus, Vladimir Vasinek
Summary: This study tested the safety and efficacy of a newly developed pad with optic fibers for monitoring newborn respiratory rate and heart rate. The results showed that the pad performed better at measuring respiratory rate compared to heart rate. The study highlights the potential of using a fiber optic pad for non-invasive measurement of heart rate and respiratory rate.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Marcela Kreslova, Petr Jehlicka, Aneta Sykorova, Daniel Rajdl, Eva Klaskova, Pavel Prokop, Sabina Kapralova, Jan Pavlicek, Romana Kaslova, Alzbeta Palatova, Veronika Mohylova, Josef Sykora
Summary: The study observed evidence of endothelial dysfunction and altered endothelial biomarkers in patients after MIS-C. Serum cystatin C (Cys C) levels were identified as an independent indicator for endothelial dysfunction in MIS-C.
Article
Medicine, General & Internal
Viktor Tomek, Hana Jicinska, Jan Pavlicek, Jan Kovanda, Petr Jehlicka, Eva Klaskova, Jiri Mrazek, David Cutka, Dagmar Smetanova, Miroslav Brestak, Pavel Vlasin, Marketa Pavlikova, Vaclav Chaloupecky, Jan Janousek, Jan Marek
Summary: Prenatal cardiac screening has significantly impacted the prevalence of congenital heart defects, termination of pregnancy rates, and postnatal outcomes. The detection rate of major CHDs has increased over time, while the termination of pregnancy rate has decreased. The introduction of first trimester screening has resulted in a higher termination rate in the first trimester but did not reverse the overall decreasing trend of termination for CHDs.
Article
Cardiac & Cardiovascular Systems
Sabina Kapralova, Jan Pavlicek, Alzbeta Palatova, Radek Vrtel, Hana Tomaskova, Jirina Zapletalova, Eva Klaskova
Summary: ECG abnormalities in Turner syndrome individuals are as frequent as in the general population and clinically insignificant. This study did not demonstrate an increased risk of malignant arrhythmias. The Hodges formula seems to be more appropriate for evaluating the QTc interval in TS patients.
Correction
Acoustics
Tomas Zaoral, Peter Kordos, Marketa Nowakova, Borek Travnicek, Jana Zapletalova, Jan Pavlicek, Baseline Diameter
ULTRASCHALL IN DER MEDIZIN
(2022)
Article
Pediatrics
Jan David, Veronika Stara, Ondrej Hradsky, Jana Tuckova, Katerina Slaba, Petr Jabandziev, Lumir Sasek, Michal Huml, Iveta Zidkova, Jan Pavlicek, Alzbeta Palatova, Eva Klaskova, Karina Banszka, Eva Terifajova, Radim Vyhnanek, Marketa Bloomfield, Sarka Fingerhutova, Pavla Dolezalova, Lucie Prochazkova, Gabriela Chramostova, Filip Fencl, Jan Lebl
Summary: This study analyzed the epidemiological, clinical, and laboratory characteristics of all PIMS-TS cases in the Czech Republic, identifying cardiovascular signs as significant initial predictors of myocardial dysfunction. A 3-week interval combined with the incidence of COVID-19 can help increase the pre-test probability of PIMS-TS during pandemic waves in suspected cases.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
