Prenatal Diagnosis Of Fetal Malformations Research Articles

SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory

Single nucleotide polymorphism (SNP) chromosome microarray is well established for investigation of children with intellectual deficit/development delay and prenatal diagnosis of fetal malformation but has also emerged for uniparental disomy (UPD) genotyping. Despite published guidelines on clinical indications for testing there are no laboratory guidelines published for performing SNP microarray UPD genotyping. We evaluated SNP microarray UPD genotyping using Illumina beadchips on family trios/duos within a clinical cohort (n=98) and then explored our findings in a post-study audit (n=123). UPD occurred in 18.6% and 19.5% cases, respectively, with chromosome 15 most frequent (62.5% and 25.0%). UPD was predominantly maternal in origin (87.5% and 79.2%), highest in suspected genomic imprinting disorder cases (56.3% and 41.7%) but absent amongst children of translocation carriers. We assessed regions of homozygosity among UPD cases. The smallest interstitial and terminal regions were 2.5 Mb and 9.3 Mb, respectively. We found regions of homozygosity confounded genotyping in a consanguineous case with UPD15 and another with segmental UPD due to non-informative probes. In a unique case with chromosome 15q UPD mosaicism, we established the detection limit of mosaicism as ∼5%. From the benefits and pitfalls identified in this study, we propose a testing model and recommendations for UPD genotyping by SNP microarray.

The effect of education on anxiety of pregnant mothers before amniocentesis.

BACKGROUND:Pregnancy alone is associated with many anxieties and worries for many women. Prenatal diagnosis of fetal malformations is one of the most important anxious events for women. Increasing knowledge empowers the person to identify the important issues and by increasing understanding, creates a positive attitude in people. Therefore, the aim of this study was to investigate the effect of education on the level of anxiety of pregnant mothers before invasive screening for fetal abnormalities (amniocentesis).MATERIALS AND METHODS:This is a quasi-experimental study with two parallel designs in three stages: Pretest (before intervention), posttest (after intervention), and after amniocentesis. This study was performed on 80 pregnant women candidates for amniocentesis (40 pregnant women in the control group and 40 pregnant women in the intervention group) referred to the perinatology clinic in Yazd in 2020. Data collection tools were demographic and midwifery questionnaires and Spiel Berger anxiety questionnaires. In the experimental group, the intervention was performed as group training for 90 min immediately before amniocentesis. In the control group, only routine procedures (brief description by a perinatologist during amniocentesis) were performed. SPSS software version 16 was used to analyze the data.RESULTS:The mean age of the research units was 67/5 ± 5/33 years. The results of Mann–Whitney intergroup test showed that the mean scores of overt anxiety before the intervention between the control and intervention groups were not significant (P < 0.014) but were significant after training and after amniocenter (P < 0.001). Furthermore, the results of Mann–Whitney group test showed that the mean scores of overt anxiety in the intervention group before and after training were significant (P < 0.001). Furthermore, the results of the control group showed significant results (P < 0.001). The results of the independent t-test showed that the mean scores of latent anxiety before the intervention between the control and intervention groups were not significant (P < 0.194) but were significant after the training (P < 0.57) but The results were not significant after amniocentesis (P < 0.216). Furthermore, the results of paired t-test within the group showed that the mean scores of overt anxiety in the intervention group before and after training was significant (P < 0.001). Furthermore, the results of the control group showed significant results (P < 0.001).CONCLUSION:The findings of the present study indicate the positive effect of education on anxiety of pregnant women candidates for amniocentesis. The results also show the important role of education on the psychological dimension of high-risk pregnant women in relation to the consequences of pregnancy and childbirth. According to the research results, it seems that education affects the cognitive system and information processing by increasing people's awareness of the amniocentesis process and its consequences.

Features of pulmonary circulation in children with congenital pulmonary venolobar syndrom

Introduction. Despite the continuous improvement of methods for prenatal diagnosis of fetal malformations, at present, the limitations of intrauterine verifcation of vascular lung anomalies and relevance in postnatal typing of all components of pathological pulmonary hemodynamic, especially in the case of complex, combined vascular malformations, remain. Detailed and expert assessment of the anatomy of the pulmonary vessels, intrapulmonary hemodynamic is necessary to minimize the time for the surgical correction of the defect in order to avoid the development of irreversible pulmonary hypertension. One of the most rare and diffcult to diagnose forms of a combination of vascular abnormalities is congenital pulmonary venolobar syndrome (CPVS), which combines venous, arterial, pulmonary and cardiac pathology, to one degree or another coexisting in one patient.Objective – analysis of clinical material and data of different diagnostic methods in children with CPVS. This everything will help to optimize diagnostics and choose the most safe and informative method to visualize combination of pulmonary and cardiovascular diseases and to determine the specifcity of pulmonary circulation. Furthermore, it will allow to minimize all risks and negative consequences for patient’s body.Material and methods. We reviewed the records of 11 children (age from 14 days to 17 years old) with intraoperative verifcation of CPVS. We systematized all variants of vascular anomalies of lungs in children with CPVS, its possible combinationswith other abnormalities. We performed the comparison of capability and diagnostic signifcance of plain radiography, echocardiography, selective angiography and CT­scan in determining the specifcity of pulmonary circulation in children with CPVS and assessment of combination of the malformation components. Results. Antenatal echocardiography and postnatal diagnostics using echocardiography, plain radiography and selective angiography is extremely limited. We suggested the diagnostic algorithm using CT­scan with the proof of the great representativeness. Obligatory components of CPVS were identifed: reduction of the right lung volume, anomalous pulmonary venous drainage (scimitar syndrome) and non­obligate components of malformation: aplasia or hypoplasia of the right pulmonary artery, systemic pulmonary arterial supply with differential pulmonary perfusion, pulmonary sequestration, other congenital heart abnormalities.Conclusion. CPVS is a rare congenital malformation. Antenatal diagnosis of all components of CVLS is impossible. MDCTAG is the most effective diagnostic method that allows to identify all components of CPVS in postnatal period. This method does not require additional radiodiagnostics and invasive diagnostic procedures.

The Use of Lausanne Trilogue Play in Three Cases of Gastroschisis Diagnosed during Pregnancy.

From pregnancy to the 1st years of a child’s life, families develop and increase representations and interactive competences toward the child. Prenatal diagnosis of a severe fetus’ defect could profoundly alter the parental perception and development of these representations. The aim of the study was to evaluate triadic interactions in families, whose baby was prenatally diagnosed with severe gastroschisis. Three families took part in the preliminary case study, which was carried out when the babies were 6 months old. The Lausanne Trilogue Play shows that prenatal diagnosis of fetal malformation may affect family triadic interactions as follows: (a) parents, especially mothers, tend to be intrusive during the play; (b) parents presents maladjustments in the child stimulations, especially during the third part, when both parents have to simultaneously interact with the baby; (c) parents experience difficulties in creating a space that allows them to communicate directly with each other, leaving the child in a peripheral position. Observational data and clinical implications are discussed.

When One Knows a Fetus Is Expected to Die: Palliative Care in the Context of Prenatal Diagnosis of Fetal Malformations.

Fetal malformations occur in 2% of gestations and are the fifth most common cause of neonatal death in the world. In many cases, fetal malformations result in neonatal death or long stay in intensive care facilities. Families that continue the pregnancy in such a situation need to make choices and cope with an overwhelming number of potential issues. Palliative care starting at the prenatal period is a growing field that allows the entire family to prepare for this difficult situation. To perform a systematic review of published data on palliative care in the prenatal period. PubMed and the Cochrane Library were searched using the keywords ("perinatal" OR "prenatal" OR "fetal") AND "palliative care" and also ("perinatal" OR "prenatal" OR "fetal") AND "hospice." Studies focusing on the long-term impact of prenatal palliative care published up to December 2015 were used. Quantitative and qualitative studies. In total, 541 studies were retrieved; 29 articles met the inclusion criteria. Studies were organized into different categories according to the design or main focus. The majority of studies retrieved were reflexives or presented a narrative proposal on palliative care started in the prenatal period (45%). Clinical studies comprised 17% of all articles found. No studies were found on the long-term impact of prenatal palliative care. Prenatal palliative care is a growing field and an important supportive care measure that can help grieving parents and families who do not want to or cannot interrupt their pregnancy. More studies should be carried out, specifically concerning long-term impact of prenatal palliative care. Guidelines and training of health professionals must be developed so that more families can benefit from this type of care.

Study on prenatal diagnosis of fetal malformations of cortical development by ultrasonography

Objective To explore sonographic manifestation of fetal malformations of cortical development.Methods From August 2012 to January 2014 three hundred and twenty-five pregnancy women referred to our institution for fetal brain MRI,which were diagnosed or suspected of central nervous system abnormalities by prenatal ultrasound examination.Results In 325 of cases,14 cases (4％) were diagnosed of malformations of cortical development.Ten eases were indicated by prenatal ultrasound,including three cases of heterotopic gray matter,six cases of microcephaly and one case of hemimegalencephaly; four cases were missed by prenatal ultrasound,including two cases of schizencephaly,one case of tuberous sclerosis,and one case of hypoplasia.Conclusions Cortical malformations can be diagnosed by prenatal ultrasonography based on typical imaging characteristics.Prenatal ultrasound combined with MRI is a powerful tool in diagnosing fetal malformations of cortical development. Key words: Ultrasonography, prenatal; Malformations of cortical development; Magnetic resonance imaging

Pregnancy and postpartum following a prenatal diagnosis of fetal thoracoabdominal malformation: The parental perspective

PurposeThe study’s aim was to evaluate how information related to a prenatal diagnosis of fetal malformation could modify parenthood experience descriptions during pregnancy and after the child’s birth. MethodsA longitudinal case–control clinical study was conducted. Data on parenthood experience descriptions collected using a validated semantic differential technique during pregnancy and after the child’s birth were compared between seven couples of parents receiving a prenatal diagnosis of fetal malformation and seven couples without any fetal diagnosis. ResultsOur results show that during pregnancy parents in the clinical group describe themselves as more fragile, passive, and timid [p=0.007] than those in the control group. On the other hand, after the child’s birth, there are no significant differences between groups. ConclusionsData are discussed with reference to better knowledge of the psychological dynamics involved in becoming a parent and to rational planning of support for parents receiving a diagnosis of fetal malformation.

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations

P12.20: Improvement in prenatal diagnosis of fetal malformations by use of color Doppler

P12.20: Improvement in prenatal diagnosis of fetal malformations by use of color Doppler

Recent Trends in Prenatal Diagnosis of Fetal Malformations

Recent Trends in Prenatal Diagnosis of Fetal Malformations

Ultrasound as a medium of communication

Following Watzlawick's general theory of human communication, ultrasound is evaluated using the categories syntax, semantics and pragmatics. Material for this survey mainly comes from routine scanning in pregnancy care. It can be shown that the criteria mentioned above may well be applied, since ultrasound has a number of similarities with mass media. Consequences of this outlook in terms of doctor-patient relationship, determining the sex of the child, and prenatal diagnosis of fetal malformations are discussed.

OC19: Ultrasound versus magnetic resonance imaging in prenatal diagnosis of fetal malformations

OC19: Ultrasound versus magnetic resonance imaging in prenatal diagnosis of fetal malformations

Ultrasound prenatal diagnosis of fetal malformations: Hospital-based screening and necropsy study

This article reviews the importance of embryo-fetal necropsy (especially in legal abortion), discusses how diagnosis is made and outlines its final aims. A detailed embryo-fetal necropsy must be made in all cases of ultrasound prenatal diagnosis of malformations. The purpose is to provide appropriate counseling and to control the quality. The ultrasonologist should be present at necropsy.

Ultrasound prenatal diagnosis of fetal malformations: Hospital-based screening and necropsy study

AbstractThis article reviews the importance of embryo-fetal necropsy (especially in legal abortion), discusses how diagnosis is made and outlines its final aims. A detailed embryo-fetal necropsy must be made in all cases of ultrasound prenatal diagnosis of malformations. The purpose is to provide appropriate counseling and to control the quality. The ultrasonologist should be present at necropsy.

Female pelvis.

Magnetic resonance imaging is gaining increasing importance in imaging of the female pelvis. This overview attempts to describe the various imaging strategies in the evaluation of gynecologic diseases, as well as the normal MR anatomy of the female genital organs. The MR indications for the assessment of various pathologic conditions, including characterization and staging of gynecologic neoplasms and prenatal diagnosis of fetal malformations, are discussed.

Prenatal diagnosis and assessment of fetal malformations by ultrasonography in India.

A multicentre study to assess the status of prenatal diagnosis of fetal malformation in India was conducted. Questionnaires were sent to the teaching hospitals and to centres in the private sector involved with ultrasonography in all the four zones. Data were obtained from 13 centres. Basic level I scans were performed on all pregnant women in 64% centres, whereas level II or targeted scans were performed as routine in 42% centres. Obstetricians performed level II scans in only 35% of cases while rest were performed by radiologists. Malformations of the central nervous system were commonest, accounting for 35-69% of all malformations, followed by genitourinary and gastrointestinal malformations. Malformations of the cardiovascular system were detected in 9.3% as abnormal four chamber view and outlet tract abnormalities, subsequently confirmed on fetal echocardiography. Invasive prenatal diagnosis by fetal blood sampling, chorion villus sampling and amniocentesis for chromosomal analysis of malformed fetuses was performed at 40% centres. At the All India Institute of Medical Sciences, approximately 11,042 ultrasound scans were performed by obstetricians as routine in all pregnant women. A total of 543 malformations were detected accounting for a 4.9% incidence of structural anomalies. A total of 98 cardiovascular malformations were detected in high and low risk pregnant women on fetal echocardiography. No database or registry exists in India to give an actual insight into the problem of congenital malformation and their prenatal diagnosis. It is important to train obstetricians in level I and II ultrasonography, to recognise centres and institutions at national and regional level, and to integrate a network of diagnostic testing. Close liaison between geneticists, radiologists, pediatric surgeons, pediatricians and obstetricians is a must for prenatal diagnosis and management of fetal malformations.

DIAGNOSIS OF CONGENITAL MALFORMATIONS USING TWO-DIMENSIONAL AND THREE-DIMENSIONAL ULTRASONOGRAPHY

Three-dimensional ultrasonography is a promising new method for the prenatal diagnosis of fetal malformations, which offers several potential advantages, including the reduction of scanning time and the ability to store images that can be reviewed and reconstructed at a later date. Three-dimensional ultrasonography, however, has many of the same limitations as the conventional two-dimensional version.

The 10,11-Epoxide-10,11-diol Pathway of Carbamazepine in Early Pregnancy in Maternal Serum, Urine, and Amniotic Fluid

Epoxide metabolites of carbamazepine (CBZ) have been suggested to play a role in the occurrence of congenital malformations observed in infants exposed to CBZ. We have investigated the 10,11-epoxide-10,11-diol pathway of CBZ in pregnant epileptic patients receiving CBZ alone or in combination with other antiepileptic drugs in relation to the outcome of pregnancy in a prospective manner. The women were referred to our clinic before 16 weeks of gestation for prenatal diagnosis of fetal malformations, including neural tube defects, by ultrasound and amniocentesis. The availability of amniotic fluid samples enabled us to determine to what extent CBZ and its main metabolites reached the amniotic fluid. In 100 pregnancies with first trimester CBZ exposure (including 7 with malformed outcome), parent drug and metabolite concentrations in maternal serum were evaluated. CBZ-10,11-epoxide concentrations increased with increasing dose. Comedication with phenobarbital led to lower 10,11-epoxide concentrations in maternal serum and a higher percentage of the dose recovered in urine as 10,11-diol. Valproate comedication led to slightly higher 10,11-epoxide concentrations in maternal serum, in combination with lower CBZ concentrations and a lower percentage of the dose recovered in the urine as 10,11-diol. In amniotic fluid, concentrations of CBZ and its main metabolites in most patients were 2 to 2.5 times higher than the free concentrations in maternal serum. Metabolites and parent drug concentrations in amniotic fluid correlated with their free concentration in maternal serum, but stronger with each other in amniotic fluid. No significant differences in levels of CBZ and its metabolites were observed between pregnancies with normal and malformed outcome.

Prospective counselling after prenatal diagnosis of fetal malformations: interventions and parental reactions.

A model of prospective counselling and intervention after prenatal diagnosis of fetal malformation is presented. 13 patients/couples with severe malformations were fully counselled, 3 patients/couples interviewed post-termination. Objectives of the counselling strategy were to support patient autonomy, facilitate mourning and reduce narcissistic damage. Counselled patients showed certain benefits concerning the acceptance of the malformation and feelings of autonomy. Integration of psychodynamic knowledge into routine care and obligatory psychotherapeutic counselling are proposed.