Добірка наукової літератури з теми "Prental diagnosis"

Ebstein’s anomaly is a rare type of congenital heart defect characterized by a malformation of the tricuspid valve and the right side of the heart. This case study presents a well-documented case of Ebstein’s anomaly that was diagnosed prenatally using sonography. The ability of prenatal sonography to detect and accurately diagnosis this case allowed for a change in the management of the pregnancy to properly evaluate the condition and prepare for treatment. In addition, information regarding Ebstein’s anomaly is reviewed and specifically addresses etiology, symptoms, diagnosis, treatment, characteristic sonographic appearance, and common differential diagnoses.

Objectives:Our study evaluates hospital survival following prenatal identification of candidates for the Norwood procedure, and the impact of prenatal diagnosis on survival, preoperative stability, and postoperative morbidity.Methods:We reviewed records of all patients who were identified prenatally as candidates for the Norwood procedure, and compared them to all postnatally diagnosed patients who underwent the Norwood procedure between August 1995 and May 2002.Results:Of the 98 patients studied, 45 (46%) were diagnosed prenatally. Of these, 35 underwent the Norwood procedure, 29 (83%) of who survived. Thus, 29 of 45 (64%) patients survived from prenatal diagnosis to discharge following the Norwood procedure. Of the 53 postnatally diagnosed patients who underwent the Norwood procedure, 42 (79%) survived. Prenatal diagnosis was not associated with improvement in survival, preoperative stability, or postoperative morbidity. By multivariate analysis, ascending aortic diameter equal to or greater than 2 mm (p = 0.01), and gestational age 36 weeks or greater (p = 0.01) independently predicted survival. Based on this, patients were stratified into groups at low risk, consisting of 69 patients, and at high risk, consisting of 19 patients. Prenatal diagnosis was unassociated with improved survival in either group. Results were unchanged when the analysis was restricted to patients with hypoplasia of the left heart.Conclusion:From the time of prenatal diagnosis, 64% of patients survived to discharge following the Norwood procedure. Prenatal diagnosis did not affect preoperative stability, survival or postoperative morbidity. This remained the case after stratifying patients by risk, or restricting analysis to patients with hypoplasia of the left heart. Ascending aortic diameter and gestational age independently predicted survival.

<b><i>Introduction:</i></b> Prenatal suprarenal lesions represent diverse pathologies. This study investigated prenatal imaging features and regression patterns associated with specific lesion diagnoses. <b><i>Methods:</i></b> This is a multicenter retrospective review of fetuses with prenatally diagnosed suprarenal lesions between 2001 and 2019. Prenatal ultrasound and MRI characteristics, postnatal imaging, and clinical course were reviewed<i>.</i> Prenatal imaging findings were compared by the most common diagnoses and regression patterns. <b><i>Results:</i></b> Forty-four fetuses were prenatally diagnosed with suprarenal lesions. Diagnoses included pulmonary sequestration (<i>n</i> = 12; 27.3%), adrenal hemorrhage (<i>n</i> = 12; 27.3%), upper quadrant cyst (including 2 duplication cysts, 1 splenic cyst, and 3 indeterminate cysts), neuroblastoma (<i>n</i> = 4), adrenal hyperplasia (<i>n</i> = 3), bilateral adrenal calcifications (<i>n</i> = 1), and indeterminate lesions (<i>n</i> = 6). Sequestrations were uniformly left-sided (100 vs. 50%; <i>p</i> = 0.014) and diagnosed earlier in gestation than adrenal hemorrhages (<i>p</i> = 0.025). Sequestrations were also significantly more likely to have a prenatal feeding vessel (<i>p</i> = 0.005), low T1 MRI signal (<i>p</i> = 0.015), and no MRI blood products (<i>p</i> = 0.018) compared to adrenal hemorrhages. When comparing all 44 patients, a prenatal feeding vessel and low T1 signal on prenatal MRI were significantly associated with lesion persistence (<i>p</i> = 0.003; <i>p</i> = 0.044). <b><i>Discussion/Conclusion:</i></b> Imaging findings on prenatal ultrasound and MRI aid in the diagnosis of suprarenal lesions, including differentiating pulmonary sequestrations and adrenal hemorrhages.

AbstractBackgroundFetal echocardiography is the main modality of prenatal diagnosis of CHD. This study was done to describe the trends and benefits associated with prenatal diagnosis of complex CHD at a tertiary care centre.MethodsRetrospective chart review of patients with complex CHD over an 18-year period was performed. Rates of prenatal detection along with early and late infant mortality outcomes were studied.ResultsOf 381 complex CHD patients born during the study period, 68.8% were diagnosed prenatally. Prenatal detection rate increased during the study period from low-50s in the first quarter to mid-80s in the last quarter (p=0.001). Rate of detection of conotruncal anomalies increased over the study period. No infant mortality benefit was noted with prenatal detection.ConclusionsImproved obstetrical screening indications and techniques have contributed to higher proportions of prenatal diagnosis of complex CHD. However, prenatal diagnosis did not confer survival benefits in infancy in our study.

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision- making and management. Cytogenetic testing methods, including chromosomal microarray analysis and gene panels, have evolved to become a part of routine laboratory testing, providing valuable diagnostic and prognostic information for prenatal diagnoses. Despite this progress, however, cytogenetic analyses are limited by their resolution and diagnosis is only possible in around 40% of the dysmorphic fetuses. The advent of nextgeneration sequencing (NGS), whole-genome sequencing or whole-exome sequencing has revolutionized prenatal diagnosis and fetal medicine. These technologies have improved the identification of genetic disorders in fetuses with structural abnormalities and provide valuable diagnostic and prognostic information for the detection of genomic defects. Here, the potential future of prenatal genetic diagnosis, including a move toward NGS technologies, is discussed.

AbstractIntroduction:A diagnosis of congenital heart disease (CHD) in offspring triggers psychological distress in parents. Results of previous studies have been inconsistent regarding the psychological impact of a prenatal versus a postnatal diagnosis. The aim of this study was to evaluate the influence of the time of diagnosis on levels of parental distress.Methods:Pregnant women and their partners with a fetus diagnosed with complex CHD, parents of children with postnatally diagnosed CHD, and pregnant women and their partners with uncomplicated pregnancies were invited to participate. Data were collected during pregnancy and 2–6 months after delivery using the Hospital Anxiety and Depression Scale, sense of coherence, life satisfaction, and Dyadic Adjustment Scale.Results:During pregnancy, the prenatal group scored lower sense of coherence compared to controls (p=0.044). Postnatally the prenatal group scored lower on sense of coherence compared to the postnatal group and controls (p=0.001; p=0.001). Postnatally, the prenatal and postnatal groups had higher levels of anxiety compared to controls (p=0.025; p=0.0003). Life satisfaction was lower in the prenatal group compared to that in the postnatal group and in controls (p=0.000; p=0.0004).Conclusion:Parents with a prenatal diagnosis of CHD in offspring report a low sense of coherence already during pregnancy which decreased further at follow-up. The same group reported a lower satisfaction with life compared to parents of a child with postnatal diagnosis of CHD and parents of a healthy child. This motivates further efforts to improve counselling and support during pregnancy and for parents after a prenatal diagnosis.

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Doctorat en Sciences biomédicales et pharmaceutiques (Médecine)
info:eu-repo/semantics/nonPublished

Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/or middle cerebral artery peak systolic velocity (MCA-PSV) at a false-positive rate of 15.8%. At 16–20 weeks’ gestation, the sensitivity of CTR was 100.0%, but the false-positive rate was 5.2%. In contrast, the false-positive rate of MCA-PSV alone was 1.4% and that of the combination of CTR and MCA-PSV was 0%, although their sensitivities were less than 65%. In a cross-sectional retrospective study of 546 samples at-risk and control (268 fetal and 278 neonatal cord blood), the degree of anemia was only mild in 27.5% of the affected fetuses (see chapter 3 for definition of mild anemia). Because MCA-PSV is not very predictive of mild anemia, this may be one of the reasons why MCA-PSV is not very sensitive in predicting an affected pregnancy. A total of 832 at-risk pregnancies were studied using same noninvasive approach at Maternal and Neonatal Hospital of Guangzhou (MNH) and Tsan Yuk Hospital (TYH). The overall sensitivity and specificity of the noninvasive approach was 100% and 95.6% respectively. At MNH, the need for an invasive test was reduced by 78.6%, and all the affected pregnancies were diagnosed before 24 weeks’ gestation. After adequate training and monitoring the quality of the subsequent ultrasound examinations, the results achieved at MNH were comparable to TYH, with at-risk pregnancies including the affected ones being seen at a more advanced gestation at MNH. In a retrospective review of 361 women at risk of carrying an affected fetus, 311 (86.2%) opted for the non-invasive approach using CTR and/or placenta. The cost saving of this non-invasive approach was relatively small (HK$ 2,651) in comparison to the cost of the whole prenatal screening program. On the other hand, the non-invasive approach was more expensive than the direct invasive approach for low MCV couples, as well as couples discordant for α-thalassemia and β-thalassemia. ages. These results support the adoption of non-invasive approach in which routine invasive test or karyotyping is no longer performed. A total of 106 at-risk pregnancies and normal controls were prospectively studied using three-dimensional ultrasonography. Placental volume (PV) at 11-14 weeks, and PV/CRL quotient at 9-14 weeks’ gestation of affected pregnancies were significantly greater than unaffected pregnancies (P<0.05). Using a cut-off point of 1.2ml/mm for PV/CRL quotient to predict an affected pregnancy, the sensitivity, and specificity was 96.2%, and 100.0% respectively.
published_or_final_version
Obstetrics and Gynaecology
Master
Doctor of Medicine

Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007). Traditionally testing has been carried out during pregnancy (prenatal diagnosis, PND). However, advances in technology have made it possible for diagnosis of an embryo created through in vitro fertilisation, prior to implantation into the womb (pre-implantation genetic diagnosis, PGD). This means that women can avoid the birth of a child with a genetic condition without the stress of terminating a pregnancy. This raises questions about what women want from reproductive technologies, as it means they are making decisions based not only on the condition diagnosed but also on the technology used to test. Two studies were carried out to examine this further. In the first study, 216 participants completed a questionnaire either based on PND or PGD. Participants were asked whether they would terminate a pregnancy (PND condition) or avoid implantation (PGD condition) following diagnosis of five different genetic conditions, ranging in severity. The results suggest an interaction between the technology (PND or PGD) and the severity of the genetic condition diagnosed, such that for the most and least severe conditions, the number of people choosing to terminate/avoid implantation was similar for the PND and PGD groups. However for conditions in the middle range of severity significantly more people said they would avoid implantation. A within subjects interview study was carried out to explore this further and thematic analysis identified a number of themes that influenced participants’ responses. Overall, the results suggest that PGD may be more acceptable for women in some cases. Women considering diagnoses are likely to benefit from detailed information about both PND and PGD in order to make a fully informed decision as to which is best for them.

Utilizing an easy and safe procedure for fetal blood sampling in utero. we have studied 123 fetuses for congenital oracquire hemorrhagic disorders.Usually, the diagnosis is performed at the 18th week of gestation. To date, no fetal less or premature labor has beenattributed to these fetal samplings. Theduration of the procedure was less than 10 minutes in 90 % of the cases. Direct blood sampling with a needle guided by ultrasound is safer for fetuses and simpler for the patients than fetoscopy. Among the 1.465 samplings the mortality rateis 0.2 %. We have established the basis values for fetal hemostasis when the samplings were performed for non hematological purpose, and could determine the fetal sex which play a role in hereditary disorders. Hemophilia A and B [92 cases]. Willebrand disease, factor XIII, V and VII deficiencies were diagnosed on the existence of a specific fetal deficit. Theknowledge of the fetal primary hemostasis let us to establish the diagnosis of May Hegglin syndrome. Gray platelet syndrome. and Glanzmann's thrombasthenia. There were no diagnostic errors. This procedure offers a new possibility of easily taking iterative samples, until the end of pregnancy, which represents a particular interest in prenatal diagnosis.

Restriction fragment length polymorphism (RFLP) analysis has been used to perform family studies, including prenatal diagnosis, in 21 haemophilia A kindred.Two intragenomic RFLPs were studied in conjunction with one linked RFLP. The intragenomic BgII RFLP,situation 3' to exon 26 was detected with cDNA probe C (Genetics Institute) giving bands of 20kb (17% of X chromosomes) and 5kb (83%), and the intragenomic Bell RFLP, situated 3' to exon 18, was detected with the genomic DNA probe pi 14.12 from Genentech. The frequency of this RFLP in the local population was 23% (1.1 kb allele) and 77% (0.88kb allele). The linked probe DXS15 (DX13) was used to detect a Bglll RFLPwith alleles of 5.8kb (45%) and 2.8kkb (55%). A recombination rate of approximately 5% has been estimated between the factor VIII and DXS15 lociCarrier studies were performed in 15 kindreds. 25 obligate carriers were identified and of these, 20 were potentially informative (heterozygous and phase known) for at least 1 RFLP (9 for Bgll, 9 for Bell and 7 for BgIII). 34 possible carriers were studied, of which 13 were diagnosed as normal (6 by BgII, 6 by Bell and 5 by BgIII). 17 were diagnosed as carriers (2 by Bgll, 12 by Bell and 10 by Bglll) and diagnosis was not possible in a further 4 cases. Of these diagnosed as carriers 3 were non-informative for all RFLPs, and 14informative for at least one RFLP (3 by Bgll, 8 by Bell and 8 with BgIII).Prenatal diagnosis was attempted by analysis of DNA extracted by chorionic villussampling in 6 cases of male fetuses at risk of havinghaemophilia A. 1 fetus was diagnosed as being affected (Bell) and was electively terminated. Three otherfetuses were diagnosed as normal by the BgIII/DXS15 RFLP, but the two intragenomic RFLPs were non-informative. Because of the possibility of a crossover allthree patients opted for mid-trimester fetoscopy andmeasurement of fetal factor VIII at Kings College Hospital, London (Dr Reuben Mibashan), where the diagnoses were confirmed. In the 4th case a normal fetus was diagnosed by the Bgll RFLP analysis, but a spontaneous abortion at 12 weeks prevented confirmation of this result. In the final case of twin male fetuses, none of the RFLPs was informative and both were diagnosed as normal by fetal blood sampling at fetoscopy.

This study has assessed the relative benefits of restriction fragment length polymorphism (RFLP) linkage and coagulation testing in the diagnosis of carriers of hemophilia A. 221 samples from 55 families have been studied for intragenic and flanking RFLPs. All samples were tested for the Factor VIII intragenic Bell RFLP and for the flanking marker St 14. 83% of obligate carrier females were heterozygous at oneor both of these two polymorphicsites. However, only38% of these women were heterozygous at the intragenic site and might safely be offered prenatal diagnosis using this marker for the hemophilia mutation. Carrier diagnosis was obtained in 52% of 81 potential carriers tested. Diagnosis wasbased on intragenic RFLP information in only 48% of these cases. Genetic diagnosis was possible in 27 atrisk women from families with no prior history of hemophilia. Four of these women were diagnosed as carriers on the basis of a gross Factor VIII gene deletion and the remaining 23 women were identified as non-carriers by the Bell (11) and Stl4 (12) RFLP data. 39 women remained undiagnosed after gene analysis studies. 23 of these women were female relatives of sporadic hemophiliacs and thus RFLP segregation analysis was inappropriate. A further 9 potential carriers were undiagnosed because of homozygosity in key individuals in their families. In 31 potential carriers we have quantitated Factor VIII:C (one stage assay) and vWf:Ag (Laurell and ELISA) and derived probabilities for carrier status. In 3 women there was conflicting genetic and coagulation data. Meanwhile, in 12 undiagnosed women from sporadic families, carrier diagnostic probabilities of > 0.9 were obtained. These studies indicate that optimal carrier detection for hemophilia A requires more intragenic and closely linked RFLPs and the continuance of coagulation testing to assist women from sporadic families.

About 250 individuals belonging to 44 families with hemophilia A or B were studied in our laboratory. The detection of carriers was first established by pedigree analysis of each family . and coagulation and immunological assays of factor VIII or IX. The availability of specific probes for the molecular study of these two genes makes possible a diagnosis with certainty in the case of informative families. 25 families of hemophilia A were studied. For each person, blood was collected into EDTA and leucocyte DNA was extracted, digested by restriction endonucleases, electrophoresed in 0.9 % agarose gels and transferred to nitrocellulose filters by Southern blotting. Two probes were used for the analysis of factor VIII gene. The St 14 probe (J.L. Mandel) located on the q28 region of the X chromosome and closely linked to the gene, determines a restriction fragment length polymorphism (RFLP) when the DNA is digested by the enzyme TaqI. The p114-12 genomic probe (Genentech) corresponding to the exons 17 and 18 of the factor VIII gene, reveals a RFLP in the DNA digested by the enzyme BclI. 19 families -of hemophilia B were studied. A total factor IX cDNA probe was used for the screening of potential deletions in the case of hemophiliacs with circulating antibodies. A genomic probe containing the exons II, III and IV of factor IX was used to detect the TaqI RFLP. For the study of factor VIII gene, the extragenic probe St 14 gives a very high percentage of informativity (about 90 %) but recombination can occur between the probe and the gene. The p 114-12 probe, which is used to confirm the results given by the St 14 probe, gives about 20 % informativity. In our study, we were able to diagnose carrier state with certainty in 92 % of the families. For hemophilia B, the genomic probe gives about 40 % informativity. A large deletion of the region of the factor IX gene has been found in one family and remains to be mapped. In conclusion, carrier detection and prenatal diagnosis can be established with certainty by molecular studies in most cases of hemophilia A using the St 14 probe, with a 5 % risk of recombination when the BclI RFLP cannot confirm. This diagnosis is possible in about 40 % of the cases of hemophilia B.