Prenatal Diagnosis Of Fetal Abnormalities Research Articles

Explaining mothers’ experiences of performing fetal health screening tests in the first trimester of pregnancy: A qualitative study with content analysis approach

BackgroundThe only way to prevent the birth of infants with chromosomal disorders is prenatal diagnosis. Prenatal diagnosis of fetal abnormalities is a critical and stressful emotional event for pregnant women which is accompanied with worry and concern. The aim of the present study was to gain deeper insights into mothers’ experiences of performing fetal health screening tests. MethodsThis was a qualitative research using a conventional content analysis approach. The study population consisted of pregnant women referring to genetic diagnosis laboratories at 11–19 weeks of gestation who were currently in the third trimester of pregnancy. After selecting the participants, a text message was first sent to the mothers and they were asked about the most appropriate time for the interview. At the arranged time, a video call was made with the mother. The data collection method was discovery interviews (Semi-structured interviews). The analysis model used in this study was based on Granheim and Landman’s method. The manuscript was prepared based on Consolidated Criteria for Reporting Qualitative Studies check list for qualitative studies. ResultsFrom a total of 11 interviews, 145 initial codes were obtained which were organized into 3 main categories: Worry and stress; Multi-faceted support; and Conflict between fear and hope. These categories included nine subcategories, namely Concern about the child's disability, Fear of intentional termination of pregnancy, Financial costs, Need for medical support, Husband support, Educational support, Peer support, Fear-hope emotional conflict caused by confirmed diagnosis of fetal abnormalities, and Normal test results. ConclusionAccording to the results of this study, mothers who go for a fetal health screening test and receive suspicious results initially, live in a state of fear and hope until they receive a definitive answer. In order to get rid of their worries and concerns, they need external support such as social support and peer support in addition to the support of their husbands and family.

128 Termination of pregnancy for fetal abnormality in a portuguese tertiary care hospital: Two-year retrospective study

Introduction: The termination of pregnancy for fetal abnormality is based on a multidisciplinary clinical practice with an individually adapted intervention. Aims of the study: The objective of this study was to determine the major indications for pregnancy termination (PT), demographic and pregnancy details and effectiveness of medical management. Methods: This descriptive retrospective study examined all cases of PT due to prenatal diagnosis of fetal abnormality at Centro Materno-Infantil do Norte from January 2019 to December 2020.

Experiences of Iranian Women with Prenatal Diagnosis of Fetal Abnormalities: A Qualitative Study

Women are more likely to be diagnosed with congenital anomalies due to advances in new technologies in medical science. Following prenatal diagnosis of fetal abnormalities, women may be forced to make decisions about whether to continue a pregnancy with fetal abnormalities. This can be a dilemma for the women. The aim of the study was to explore women’s experiences of prenatal diagnosis of fetal abnormalities. A qualitative study was conducted in a referral women’s hospital in Tehran, Iran in 2018. Participants were a purposeful sample of 15 women with prenatal diagnosis of fetal abnormalities. Data were collected by individual, in-depth interviews. The conventional content analysis approach was used to analyze the data. Two main themes “emotional suffering” and “decision-making challenge” were extracted from the participants’ experiences. Emotional suffering consisted of subthemes “commiseration,” “self-blame,” “sense of guilt,” and “projection.” Decision-making challenge included subthemes “lack of support,” “stereotypical beliefs,” and “uncertainty.” The women’s experiences of prenatal diagnosis of fetal abnormalities were associated with emotional suffering and challenges in decision-making to continue or terminate the pregnancy. Strategies need to be employed to improve women’s autonomy in decision-making. Healthcare professionals should be trained in communication skills to provide appropriate counseling to support women with diagnosis of fetal anomalies.

Diagnosis of Fetal Abnormalities during the First Trimester.

The quality of prenatal diagnosis of fetal abnormalities has advanced with improved resolution of ultrasound imaging and cytogenetic/molecular analysis. In this article, we briefly review the history of diagnosing fetal abnormalities and the current status of prenatal diagnosis during the first trimester (up to the first 14 weeks' gestation), focusing especially on fetal malformations and chromosomal abnormalities. As for detectable morphological abnormalities, roughly half of all major structural anomalies including those in the central nervous system, cardiovascular system and gastrointestinal system can be detected, if not definitely diagnosed. For screening of chromosomal abnormalities, especially for trisomy 21, ultrasound soft markers such as increased nuchal translucency, maternal serum markers and their combinations have been implemented. More recently, non-invasive prenatal testing, by analyzing cell-free DNA in maternal serum, is now available to detect chromosomal abnormalities with higher predictability. Although invasive chorionic villus sampling offers definite diagnosis for chromosomal abnormalities during the first trimester, non-invasive diagnostic techniques are patient-friendly and promising in the future perspectives on prenatal diagnosis for chromosomal abnormalities.

From prenatal diagnosis of fetal abnormality to preimplantation genetic diagnosis for skeletal dysplasia using next-generation-sequencing technologies

From prenatal diagnosis of fetal abnormality to preimplantation genetic diagnosis for skeletal dysplasia using next-generation-sequencing technologies

Parental experiences after prenatal diagnosis of fetal abnormality

For many pregnant women, prenatal testing is a routine component of contemporary pregnancy care. Receiving a prenatal diagnosis is frequently associated with intense feelings of shock and grief; the extent of which may be unrelated to the pregnancy gestation or the condition diagnosed. During this time of crisis, parents are often faced with important choices about their pregnancy. Levels of understanding and experiences of professional support throughout this time likely impact decisions that are made and how they are subsequently perceived. Despite considerable advances in prenatal testing technologies over the last 20 years there is a paucity of research examining parental experiences in-depth. Future advances such as prenatal exome sequencing will further increase the scope of prenatal testing and numbers of parents who receive a prenatal diagnosis. It is imperative that large-scale studies are performed to ensure that protocols are in place to adequately support couples at this time.

Application of combined chromosome karyotype analysis and multiplex ligation probe amplification technique for the prenatal diagnosis of fetal abnormalities

To assess the value of combined chromosome karyotype analysis and multiplex ligation probe amplification (MLPA) assay for the prenatal diagnosis of fetuses with abnormalities detected by ultrasonography. With informed consent obtained, 72 pregnant women with ultrasound detected fetal structural abnormalities underwent percutaneous umbilical cord blood sampling. Routine karyotype analysis and MLPA assay were used to detect potential chromosomal deletions and duplications. Five cases were found with an abnormal karyotype. In addition, the MLPA has detected 2 chromosomal microdeletions and 1 microduplication. Together the two methods have yielded a detection rate of 11.11%. For fetal abnormalities revealed by ultrasonography, combined karyotype analysis and MLPA assay can provide a better option for its efficiency and simplicity.

Embodied experiences of prenatal diagnosis of fetal abnormality and pregnancy termination

Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women’s psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women’s experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women’s narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home.

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

ABSTRACT The introduction of three-dimensional (3D)/four-dimensional (4D) sonography with high-frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examiner, both structural and functional development in the first trimester of gestation can be assessed more objectively and reliable. Indeed, new technology moved embryology from postmortem studies to the in vivo environment. Furthermore, there are good reasons to believe that 3D/4D sonography moved prenatal diagnosis of fetal abnormalities from the second to the first trimester of pregnancy. We will try to illustrate it with the number of convincing figures. How to cite this article Pooh RK, Kurjak A. Three-dimensional/ Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy. Donald School J Ultrasound Obstet Gynecol 2012;6(4):376-390.

Fetal magnetic resonance imaging in obstetric practice

Ultrasonography (USG) is the primary imaging method for prenatal diagnosis of fetal abnormalities since its discovery. Although it is the primary method of fetal imaging, it cannot provide sufficient information about the fetus in some conditions such as maternal obesity, oligohydramnios and engagement of the fetal head. At this stage, magnetic resonance imaging (MRI) facilitates examination by providing more specific information. The need and importance of fetal MRI applications further increased by the intrauterine surgery which is currently gaining popularity. Some advantages of fetal MRI over USG are the good texture of contrast, a greater study area and visualization of the lesion and neighbourhood relations, independence of the operators. Also it is not affected by maternal obesity and severe oligohydramnios. However, MRI is inadequate in detecting fetal limb and cardiac abnormalities when compared to USG. MRI is not used routinely in pregnancy. It is used in situations where nonionizing imaging methods are inadequate or ionizing radiation is required in pregnant women. It is not recommended during the first trimester. Contrast agent (Godalinium) is not used during pregnancy. It is believed that MRI is not harmful to the fetus, although the biological risk of MRI application is not known. MRI technique is superior to USG in the detection of corpus callosum dysgenesis, third-trimester evaluation of posterior fossa malformations, bilateral renal agenesis, diaphragmatic hernia and assessment of lung maturation. Especially, it is the method of choice for evaluation of central nervous system (CNS) abnormalities. Fetal MRI has a complementary role with USG. It provides important information for prenatal diagnosis, increases diagnostic accuracy, and in turn affects the prenatal treatment, prenatal interventions and birth plan.

The proteomic analysis of human neonatal umbilical cord serum by mass spectrometry

To investigate the proteome composition and function of human neonatal arterial umbilical cord. Serum proteomic analyses were performed on samples from both males and females by using a combination of techniques: (1) removal of six high-abundance proteins, (2) tryptic digestion of low-abundance proteins, (3) separation of peptide mixtures by reverse-phase high-performance liquid chromatography (RP-HPLC), and (4) peptide identification using electrospray ionization tandem mass spectrometry (ESI-MS/MS). A total of 837 non-redundant proteins were identified, with 213 male-specific and 239 female-specific proteins. Among them, 319 proteins were identified by at least 2 distinct peptides. The subcellular localization, function, and pathway involvement for each of the identified proteins were analyzed. A comparison of this neonatal proteome to that of adult serum proteome revealed novel biomarkers, such as alpha-fetoprotein and periostin that were specific to newborn infants. These data will contribute to a better understanding of the composition of umbilical cord serum and aid the discovery of novel biomarkers for the prenatal diagnosis of fetal abnormalities.

Fetal Magnetic Resonance Imaging: The Basics

<P>Fetal magnetic resonance imaging (MRI) is becoming used more commonly in the prenatal diagnosis of fetal abnormalities. MRI is not the most common or even the first study a physician will order on a pregnant female. Ultrasonography remains the method of choice for prenatal workup. However, MRI can complement ultrasonography and improve the accuracy of diagnosing certain fetal abnormalities, which in turn can alter patient counseling and planning. At our hospital, patients are referred to the Institute of Maternal and Fetal Health (IMFH) by obstetricians and perinatologists when an abnormality is detected or suspected. The patient is examined and undergoes an additional ultrasound by one of our perinatologists. The IMFH perinatologist then requests a fetal MRI to evaluate those fetuses with certain known or suspected abnormalities that are at a gestational age greater than 18 weeks.</P> <H4>ABOUT THE AUTHORS</H4> <P>Hollie A. Jackson MD, and Ashok Panigrahy, MD, are Assistant Professors with Department of Radiology, Institute for Maternal Fetal Health, Childrens Hospital Los Angeles, Keck School of Medicine of USC. </P> <P>Address correspondence to: Hollie A Jackson MD, Childrens Hospital Los Angeles, Department of Radiology, Mail Stop #81, 4650 Sunset Boulevard, Los Angeles, CA 90027, or e-mail <a href="mailto:hjackson@chla.usc.edu">hjackson@chla.usc.edu</a>. </P> <P>Dr. Jackson and Dr. Panigrahy have disclosed no relevant financial relationships.</P> <P>Acknowledgment: The authors thank Dr. David Miller for providing the prenatal ultrasound pictures. </P> <H4>EDUCATIONAL OBJECTIVES</H4> <OL> <LI>Define the indications for fetal magnetic resonance imaging (MRI).</LI> <LI>Determine the efficacy and safety of fetal MRI.</LI> <LI>Cite the different abnormalities that can be successfully imaged by fetal MRI.</LI> </OL>

Proteomics Analysis of Human Amniotic Fluid

Amniotic fluid is a dynamic and complex mixture that reflects the physiological status of the developing fetus. In this study, the human amniotic fluid (AF) proteome of a 16-18-week normal pregnancy was profiled and analyzed to investigate the composition and functions of this fluid. Due to the complexity of AF, we utilized three different fractionation strategies to provide greater coverage. Two types of two-dimensional LC/MS/MS as well as an LC-SDS-PAGE-LC-MS/MS platform were used. A total of 16 AF samples between gestational ages of 16 and 18 weeks from women carrying chromosomally normal fetuses were analyzed by one of the three fractionation methods followed by a common reverse phase LC-MS/MS step. Mascot and The Global Proteome Machine engines were used to search the International Protein Index human database for peptide sequence identification. The list of proteins was generated by combining the results of both engines through the PeptideProphet of Scaffold software. All identified proteins were combined to generate the AF proteome comprising 1,026 unique gene matches or 842 non-redundant proteins. This list includes most of the currently used biomarkers for pregnancy-associated pathologic conditions such as preterm delivery, intra-amniotic infection, and chromosomal anomalies of the fetus. The subcellular localization, tissue expression, functions, and networks of the AF proteome were analyzed by various bioinformatic tools. These data will contribute to the better understanding of amniotic fluid function and to the discovery of novel biomarkers for prenatal diagnosis of fetal abnormalities.

Family-Centered Care in the Context of Fetal Abnormality

Women confronted with prenatal diagnosis of fetal abnormality face emotionally challenging choice options and considerable uncertainty regarding impact of choice on their families. Prenatal diagnosis of fetal abnormality presents childbearing women with difficult choices, such as continuation of pregnancy with no intervention, abortion, and, in selected cases, experimental fetal therapy. Regardless of their decision, it is a time of transition marked by grief and loss. The experience women and families have with the option chosen has an impact on their short- and long-term well-being. Healthcare providers are paramount in facilitating this transitional time in supporting family needs.

Prenatal diagnosis of fetal abnormality: the decision to terminate the pregnancy and the psychological consequences

In the absence of any prenatal screening, some two percent of babies will be born with a structural anomaly; a further 1 in 700–800 will be born with Down's syndrome, with similar numbers having other chromosomal and serious genetic disorders. The prevalence of abnormalities in early pregnancy is higher because abnormal fetuses are more likely to miscarry than normal ones. A small number of women enter pregnancy at increased risk of conceiving a baby with an abnormality. They may have a maternal condition such as diabetes, need medication for conditions such as epilepsy, or have a family history of a genetic disorder (www3.ncbi.nlm.nih.gov/Omim/searchomim.html). Most abnormalities, however, occur in healthy, low-risk women.

Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies

When given an adverse prenatal diagnosis, parents are deeply shocked and experience acute grief. This review considers the psychological outcomes for parents whether they opt to terminate the pregnancy or continue, either through choice or because termination is not an option. It covers the full spectrum of malformation from treatable, through those carrying a risk of significant handicap, to lethal. It draws on two types of studies: those that are retrospective and qualitative, describing feelings and aspects of care, and those that are prospective and assess psychological state with standardized measures of grief, anxiety and depression. The relationship between psychological outcome and possible associated variables, such as individual characteristics, nature of the abnormality and obstetric factors is described and evaluated. In addition, the authors draw on both scientific and support group literature to summarize good practice for the care of parents receiving an unexpected diagnosis of fetal abnormality.

What price information? Modelling threshold probabilities of fetal loss

This paper is an extension of previous work in which an alternative method of measuring the benefits of antenatal screening was proposed. The method is based on the elicitation of threshold probabilities of fetal loss at which women would be indifferent between having and not having an amniocentesis for the prenatal diagnosis of fetal abnormalities. The aim of this paper is to extend the previous work by modelling the preferences of a larger sample of women and investigating the consistency and validity of their responses. The threshold probabilities are elicited using standard gambles and modelled using Tobit estimation. The results indicate that it is possible to model these probabilities in this way and that it is possible to obtain a high degree of consistency in response to standard gamble questions. While establishing the validity of the responses is more difficult there is some evidence that the technique can provide valid responses.

Can nucleated erythrocytes found in maternal venous blood be used in the noninvasive prenatal diagnosis of fetal chromosome abnormalities?

Nucleated erythrocytes found in the venous blood of pregnant women have been seen as the most promising type of cell for prenatal diagnosis of fetal abnormalities because of their short life span and their scarcity in the venous blood of healthy nonpregnant women. However, this review demonstrates that a great proportion of the nucleated erythrocytes found in venous blood during pregnancy are of maternal origin and that pregnancy per se induces nucleated erythrocytes of maternal origin to appear in the peripheral blood. More efficient and specific enrichment techniques are therefore needed to obtain purified nucleated erythrocytes of fetal origin in such quantities that reliable prenatal diagnoses can be performed.

Pregnancy management decisions by adolescents following second-trimester prenatal diagnosis of fetal abnormalities

Study Objective: To evaluate the pregnancy management decisions made by adolescents who were found to be carrying fetuses with abnormalities.Design: Adolescent women who were carrying fetuses with abnormalities detected in the second trimester of pregnancy were evaluated as to their decision to continue or terminate their pregnancies. The decision by these women to include parents, guardians, or partners in the counseling process was also evaluated.Setting: The clinical offices of the Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis.Participants: Twelve adolescent women (16 years old or younger) who were found to be carrying fetuses with abnormalities. All participants were between 14 and 20 weeks gestation.Main Outcome Measures: Genetic counseling was provided to five women carrying fetuses with chromosome abnormalities (two trisomy 21, two 45,X, and one trisomy 13), four women with fetuses demonstrating malformations with normal chromosome complements, and three women carrying fetuses with neural tube defects (two spina bifida and one anencephaly).Results: All 12 women elected to have a parent or guardian accompany them for genetic counseling following the detection of fetal abnormalities. In five cases the patient's partner attended the counseling session. All women elected to terminate their pregnancies.Conclusion: Factors other than severity of the abnormality (e.g., desire to terminate the pregnancy irrespective of abnormality, stable and nurturing marital or family relationships, economic independence) may play important roles in the adolescents' decision to continue or terminate a pregnancy after detection of fetal abnormalities.

The value of sonographic examination in prenatal diagnosis of fetal abnormalities

Ultrasound (USÇ) examinations were performed to evaluate fetal anomalies in a high-risk population of 20 cases during pregnancy. Three of teh fetuses had abnorınal sonograms were:hydrops, one case; skeletal abnorınalities, one case iniencephaly, one case, ali of them were diagnosed antenatally, but in one case fetal microcephaly was not detected(false-negative). The outcome of rutinsonography( R-USG) in three cases were false negative (cadual regression malforınation, cloverleaf skull, split-hand anomaly).