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Articoli di riviste sul tema "Prenatal diagnosis"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 30 luglio 2024

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1

Gorbunov, D. V., e L. S. Abikeeva. "Prenatal diagnosis of critical congenital heart defects in Kazakhstan: a single-center 8 years’ experience". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, n. 5 (18 novembre 2022): 96–102. http://dx.doi.org/10.21508/1027-4065-2022-67-5-96-102.

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Purpose. To give a quantitative and qualitative assessment of the results of prenatal diagnosis of critical congenital heart defects in the Republic of Kazakhstan based on the treatment of newborns at the head cardiac surgery center.Methods. A retrospective analysis of the medical records of 511 newborns with critical congenital heart defects treated at the National Research Cardiac Surgery Center (NRCSC) in 2012–2019 was performed. The proportion of those operated on was 474/511 (92.8%). The studied parameters were the presence of prenatal diagnosis of critical congenital heart defects (yes/no); prenatal diagnosis formulation; postnatal diagnosis formulation; discrepancy between pre- and postnatal diagnoses (yes/no); for a prenatally diagnosed newborn — the gestational age at the time of the diagnosis and the region where the diagnosis was firstly made.Results. Prenatally, 297/511 (58.1%) newborns were diagnosed. The rate of discrepancies between pre- and postnatal diagnoses was 62/288 (21.5%). According to the timing of the prenatal diagnosis, newborns were distributed as follows: first trimester screening — 20/272 (7.4%), second trimester screening — 139/272 (51.1%), third trimester screening — 113/272 (41.5%). Up to 22 weeks of gestation, 71/272 (26.1%) patients were diagnosed. Among the newborns treated at the NRCSC, the proportion of those diagnosed prenatally in different regions of the Kazakhstan varies from 20% to 100%.Conclusions. 1) Prenatal diagnosis of critical congenital heart defects is carried out in all regions of Kazakhstan, providing an acceptable level of detection; 2) in half of the cases, critical congenital heart defects are diagnosed during the second screening, however, there is an experience of their accurate detection as early as during the first screening; 3) individually, doctors of ultrasound diagnostics in Kazakhstan apply an extended protocol for examining the fetal heart; 4) a significant proportion of fetuses diagnosed before the 22nd week of gestation shows the choice of families in favor of carrying of a pregnancy when a critical congenital heart defects is detected; 5) the greatest difficulty for prenatal diagnosis is presented by patients with total anomalous pulmonary veins return.

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ACAR, Züat, Işıl TURAN BAKIRCI, Deniz Kanber ACAR e Helen BORNAUN. "Prenatal diagnosis and clinical outcomes of isolated interruption of the inferior vena cava: an analysis of 12 cases". Journal of Medicine and Palliative Care 4, n. 5 (27 ottobre 2023): 530–34. http://dx.doi.org/10.47582/jompac.1358089.

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Objectives: This study aimed to comprehensively investigate the clinical manifestations and outcomes of prenatally diagnosed isolated interrupted inferior vena cava (IIVC) with azygos continuation to shed light on the significance of prenatal diagnosis. Methods: A longitudinal study involved 12 fetuses prenatally diagnosed with IIVC and azygos continuation. Detailed fetal anomaly scans and echocardiography were performed, and pediatric cardiologists confirmed postnatal diagnoses. Genetic testing and extensive follow-ups were also performed. Results: The study confirmed the high diagnostic accuracy of prenatal identification, with 100% postnatal confirmation. Most patients exhibited favorable outcomes, emphasizing the importance of prenatal diagnosis. Genetic testing revealed normal chromosomal arrangements in all tested cases. Conclusion: Our study underscores the vital role of prenatal diagnosis in managing isolated IIVC cases and highlights their generally favorable prognosis. This study contributes to understanding this rare vascular anomaly and its implications for clinical practice.

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DiLiberti, J. H., M. A. Greenstein e S. S. Rosengren. "Prenatal Diagnosis". Pediatrics in Review 13, n. 9 (1 settembre 1992): 334–42. http://dx.doi.org/10.1542/pir.13-9-334.

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Begum, Rashida. "Prenatal Diagnosis". Bangladesh Journal of Obstetrics & Gynaecology 31, n. 2 (12 ottobre 2017): 61–62. http://dx.doi.org/10.3329/bjog.v31i2.34211.

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5

Baumiller, Robert. "Prenatal Diagnosis". Ethics & Medics 20, n. 11 (1995): 3–4. http://dx.doi.org/10.5840/em1995201122.

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Hafner, Erich. "Prenatal diagnosis". Hamdan Medical Journal 5, n. 3 (2012): 213. http://dx.doi.org/10.7707/hmj.v5i3.196.

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DiLiberti, John H., Mark A. Greenstein e Sally Shulman Rosengren. "Prenatal Diagnosis". Pediatrics In Review 13, n. 9 (1 settembre 1992): 334–42. http://dx.doi.org/10.1542/pir.13.9.334.

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The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.

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8

Texler, K. C. "Prenatal diagnosis". Medical Journal of Australia 152, n. 3 (febbraio 1990): 149. http://dx.doi.org/10.5694/j.1326-5377.1990.tb125125.x.

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Lippman, A. "Prenatal diagnosis." American Journal of Public Health 89, n. 10 (ottobre 1999): 1592–93. http://dx.doi.org/10.2105/ajph.89.10.1592.

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10

WILLIAMSON, ROGER A. "PRENATAL DIAGNOSIS". Clinical Obstetrics and Gynecology 31, n. 2 (giugno 1988): 231. http://dx.doi.org/10.1097/00003081-198806000-00003.

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&NA;. "Prenatal Diagnosis". Clinical Obstetrics and Gynecology 31, n. 2 (giugno 1988): 419–20. http://dx.doi.org/10.1097/00003081-198806000-00015.

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12

De Ponte, Francesco Saverio, Davide Johan Bottini, Eugenio Maggi, Emanuele Marchetti, Piero Cascone e Giorgio lannetti. "Prenatal Diagnosis". Journal of Craniofacial Surgery 9, n. 2 (marzo 1998): 190–95. http://dx.doi.org/10.1097/00001665-199803000-00020.

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13

Johnson, Timothy R. B. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 3, n. 2 (aprile 1991): 219–20. http://dx.doi.org/10.1097/00001703-199104000-00009.

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&NA;. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 5, n. 2 (aprile 1993): 267???288. http://dx.doi.org/10.1097/00001703-199304000-00016.

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Ludmir, Jack. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 8, n. 2 (aprile 1996): 129???132. http://dx.doi.org/10.1097/00001703-199604000-00009.

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Ludmir, Jack. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 9, n. 2 (aprile 1997): 107–8. http://dx.doi.org/10.1097/00001703-199704000-00006.

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Chescheir, Nancy. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 16, n. 2 (aprile 2004): 151. http://dx.doi.org/10.1097/00001703-200404000-00009.

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Desforges, Jane F., Mary E. D'Alton e Alan H. DeCherney. "Prenatal Diagnosis". New England Journal of Medicine 328, n. 2 (14 gennaio 1993): 114–20. http://dx.doi.org/10.1056/nejm199301143280208.

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19

Langford, K. "Prenatal diagnosis". Current Obstetrics & Gynaecology 11, n. 5 (ottobre 2001): 313–14. http://dx.doi.org/10.1054/cuog.2001.0202.

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Saili, Arvind, Savita Jha e Babu Madarkar. "Prenatal Diagnosis". Journal of Neonatology 28, n. 1 (marzo 2014): 28–32. http://dx.doi.org/10.1177/0973217920140106.

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21

Chueh, Jane. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 29, n. 2 (aprile 2017): 71–72. http://dx.doi.org/10.1097/gco.0000000000000352.

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Chueh, Jane. "Prenatal diagnosis". Current Opinion in Obstetrics and Gynecology 30, n. 2 (aprile 2018): 102–3. http://dx.doi.org/10.1097/gco.0000000000000446.

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23

Davis, Alison. "PRENATAL DIAGNOSIS". Lancet 334, n. 8671 (novembre 1989): 1104. http://dx.doi.org/10.1016/s0140-6736(89)91122-7.

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Carlson, Laura M., e Neeta L. Vora. "Prenatal Diagnosis". Obstetrics and Gynecology Clinics of North America 44, n. 2 (giugno 2017): 245–56. http://dx.doi.org/10.1016/j.ogc.2017.02.004.

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25

Mackie Ogilvie, Caroline, e Frances Flinter. "Prenatal diagnosis". Lancet 366, n. 9492 (ottobre 2005): 1159–60. http://dx.doi.org/10.1016/s0140-6736(05)67471-5.

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Eiben, Bernd, e Ralf Glaubitz. "Prenatal diagnosis". Lancet 366, n. 9492 (ottobre 2005): 1161–62. http://dx.doi.org/10.1016/s0140-6736(05)67473-9.

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Somerville, Margaret. "Prenatal diagnosis". Lancet 366, n. 9492 (ottobre 2005): 1162. http://dx.doi.org/10.1016/s0140-6736(05)67474-0.

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Arensman, Robert M. "Prenatal Diagnosis". Journal of the American College of Surgeons 204, n. 1 (gennaio 2007): A36. http://dx.doi.org/10.1016/j.jamcollsurg.2006.10.020.

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29

Eiben, B., e W. Hammans. "Prenatal diagnosis". Reproduktionsmedizin 15, n. 5 (ottobre 1999): 372–77. http://dx.doi.org/10.1007/s004440050127.

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Kabra, Madhulika. "Prenatal diagnosis". Indian Journal of Pediatrics 70, n. 1 (gennaio 2003): 81–85. http://dx.doi.org/10.1007/bf02722749.

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31

Paek, Bettina, James D. Goldberg e Craig T. Albanese. "Prenatal Diagnosis". World Journal of Surgery 27, n. 1 (1 gennaio 2003): 27–37. http://dx.doi.org/10.1007/s00268-002-6734-5.

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32

Rodeck, C. H. "PRENATAL DIAGNOSIS". Lancet 341, n. 8843 (febbraio 1993): 468–69. http://dx.doi.org/10.1016/0140-6736(93)90213-z.

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33

Ghai, Anita, e Rachana Johri. "Prenatal Diagnosis". Indian Journal of Gender Studies 15, n. 2 (maggio 2008): 291–316. http://dx.doi.org/10.1177/097152150801500205.

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Reddy, Pramod P., e James Mandell. "PRENATAL DIAGNOSIS". Urologic Clinics of North America 25, n. 2 (maggio 1998): 171–80. http://dx.doi.org/10.1016/s0094-0143(05)70005-7.

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35

Rodrigo, Nalinda. "Prenatal diagnosis". Sri Lanka Journal of Child Health 33, n. 4 (8 luglio 2009): 97. http://dx.doi.org/10.4038/sljch.v33i4.618.

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36

BAUMANN, P., e B. MCFARLIN. "Prenatal diagnosis". Journal of Nurse-Midwifery 39, n. 2 (marzo 1994): S35—S51. http://dx.doi.org/10.1016/0091-2182(94)90063-9.

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37

Bobrow, Martin. "Prenatal diagnosis". Journal of Chemical Technology & Biotechnology 43, n. 4 (24 aprile 2007): 285–91. http://dx.doi.org/10.1002/jctb.280430408.

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38

Gordon, Jon W. "Prenatal diagnosis today: The morality of prenatal diagnosis". Human Reproduction 10, n. 4 (aprile 1995): 767–68. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136034.

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39

Lazow, Stefanie P., Danielle M. Richman, Beatrice Dionigi, Steven J. Staffa, Carol B. Benson e Terry L. Buchmiller. "Prenatal Imaging Diagnosis of Suprarenal Lesions". Fetal Diagnosis and Therapy 48, n. 3 (2021): 235–42. http://dx.doi.org/10.1159/000512689.

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<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.

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Jouzová, Anna, Lukáš Hruban, Jakub Turek, Martin Jouza, Romana Gerychová, Tereza Tureková e Petr Janků. "Prenatal diagnosis in estimating the prognosis of sacrococcygeal teratoma". Česká gynekologie 89, n. 3 (22 giugno 2024): 219–23. http://dx.doi.org/10.48095/cccg2024219.

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Summary: Sacrococcygeal teratoma is a rare congenital malformation, the prognosis depends on factors affecting foetal development. The diagnosis is based on ultrasound examination, especially the evaluation of the detailed morphology of the foetus in the 20th week of pregnancy. Therefore, it is crucial to keep looking for ultrasound markers that would prenatally determine the most accurate prognosis for the foetus. Now, we rely on a small number of studies with a predominance of case reports. We offer a literature review of the essential information concerning sacrococcygeal teratoma diagnostics, therapy, and complications of sacrococcygeal teratomas in connection with prenatal diagnosis. It turns out that in cases with a favourable prognosis according to prenatal ultrasound examination and adequate surgical treatment after childbirth, the prognosis of this congenital malformation is excellent. Key words: sacrococcygeal teratoma – foetal tumours – prenatal diagnosis – ultrasound – prognosis

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Zvanca, Mona, e Cristian Andrei. "Prenatal Diagnosis of Neuroblastoma". Donald School Journal of Ultrasound in Obstetrics and Gynecology 8, n. 3 (2014): 321–27. http://dx.doi.org/10.5005/jp-journals-10009-1371.

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ABSTRACT Fetal malignancies are rare complications during pregnancies, but when they appear, they are very challenging for the perinatology team. Because of their low incidence, the information is limited, with data provided from individual case reports or small case series. Although neuroblastoma is the most frequent extracranial solid tumor in childhood, prenatal diagnosis by ultrasound is very rare and almost always discovered during routine third trimester ultrasound. Expectant management is usually indicated prenatally, with serial ultrasound examination. Delivery should be planned in a tertiary center together with pediatric oncologists and surgeons to allow appropriate postnatal management. We present two cases of neuroblastoma diagnosed at 36 and 33 weeks of gestation with multiple aspects of this tumor identified by ultrasound. Both cases needed surgery and had a favorable outcome. The key role of ultrasound in diagnosis and follow-up of neuroblastoma in pregnancy is discussed, together with the management options recommended in literature. How to cite this article Andrei C, Vladareanu R, Zvanca M, Vladareanu S. Prenatal Diagnosis of Neuroblastoma. Donald School J Ultrasound Obstet Gynecol 2014;8(3):321-327.

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42

Schäfer, D., J. Arnemann, E. Brude e R. Baumann. "Prenatal diagnosis today: Society must decide about prenatal diagnosis". Human Reproduction 10, n. 4 (aprile 1995): 768–69. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136035.

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43

Wolter, Aline, Marie Gebert, Christian Enzensberger, Andrea Kawecki, Rüdiger Stessig, Jan Degenhardt, Jochen Ritgen et al. "Outcome and Associated Findings in Individuals with Pre- and Postnatal Diagnosis of Tetralogy of Fallot (TOF) and Prediction of Early Postnatal Intervention". Ultraschall in der Medizin - European Journal of Ultrasound 41, n. 05 (19 novembre 2018): 504–13. http://dx.doi.org/10.1055/a-0753-0008.

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AbstractPurpose The aim of our retrospective evaluation was to compare the outcome of patients with prenatal and postnatal diagnosis of Tetralogy of Fallot (TOF) and to analyze prenatal echocardiographic parameters predicting intervention within 30 days postnatal.Materials and Methods We evaluated 142 patients in our pediatric heart center and prenatal diagnosis center and prenatal practice Praenatal plus in Cologne between 01/08–06/16.Results Within the prenatal diagnosis group, 6/74 fetuses (8.1 %) had TOF with pulmonary atresia (TOF-PA), and 6 (8.1 %) had absent pulmonary valve syndrome (TOF-APVS). 14 (18.9 %) had an abnormal karyotype including 9/14 (64.3 %) with microdeletion 22q11.2. 25 (33.8 %) had extracardiac malformation. 4 (5.4 %) had agenesis of ductus arteriosus (DA), 22 (29.7 %) had right aortic arch (RAA) and 9 (12.2 %) had major aortopulmonary collateral arteries (MAPCAs). Within the postnatal diagnosis group, no patient had TOF-PA, 4/68 (5.9 %) had TOF-APVS. 12 (17.6 %) had extracardiac malformations, 9 (13.2 %) had an abnormal karyotype including 2/9 with microdeletion 22q11.2. 10 (14.7 %) had RAA, 9 (13.2 %) had MAPCAs. There were no cases with agenesis of DA. Increasing z-score values of the left/right pulmonary artery (LPA/RPA) prenatally were associated with a lower probability for early postnatal intervention (RPA: p = 0.017; LPA: p = 0.013). Within the prenatal diagnosis group, 12 of 41 (29.3 %) live-born patients with follow-up and intention to treat needed early intervention versus 7 (10.3 %) in the postnatal diagnosis group (p = 0.02). Within the postnatal diagnosis group, there were no deaths, while 2 (4.9 %) post-intervention deaths occurred in the prenatal diagnosis group.Conclusion There are no significant differences concerning post-intervention survival in the prenatal diagnosis group versus the postnatal diagnosis group. Complex cases may be underrepresented in the postnatal diagnosis group. Smaller RPA/LPA values prenatally seem to be associated with early postnatal intervention.

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Sofronova, Viktoriia, Lyutsiya Gotovtseva, Anastasia Danilova, Aitalina Sukhomyasova, Takahito Moriwaki, Seigo Terawaki, Takanobu Otomo e Nadezhda Maksimova. "Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)". Genes 14, n. 8 (3 agosto 2023): 1581. http://dx.doi.org/10.3390/genes14081581.

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Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this disease than others. Diagnosing MPSPS relies on clinical manifestations, and genetic testing (GT) is used to confirm the diagnosis. In this research, we examined two pregnancy cases, one of which involved a prenatal diagnosis for MPSPS. Notably, neither pregnant woman had a known family history of the disorder. During their pregnancies, both women underwent prenatal ultrasonography, which revealed increased prenasal thickness during the second trimester. In the first case, ultrasonography indicated increased prenasal thickness in the second trimester, but a definitive diagnosis was not made at that time. The patient was eventually diagnosed with MPSPS at 11 months of age. On the contrary, in the second case, GT uncovered that the parents were carriers of MPSPS. Consequently, a placental biopsy was performed, leading to an early diagnosis of MPSPS. This study emphasizes the importance of ultrasonography findings in prenatal MPSPS diagnosis. Combining ultrasonography with GT can be a valuable approach to confirming MPSPS at an early stage, allowing for the appropriate planning of delivery methods and medical care. Ultimately, this comprehensive approach can significantly enhance the quality of life of both affected patients and their parents.

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Gorla, Sudheer R., Abhishek Chakraborty, Ashish Garg, Rubee A. Gugol, Richard E. Kardon e Sethuraman Swaminathan. "Emerging trends in the prenatal diagnosis of complex CHD and its influence on infant mortality in this cohort". Cardiology in the Young 29, n. 3 (26 dicembre 2018): 270–76. http://dx.doi.org/10.1017/s1047951118002147.

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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.

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Shields, Lisa B. E., Jeffrey T. White, Dennis S. Peppas e Eran Rosenberg. "Challenges in the Prenatal Diagnosis of Cloaca". Global Pediatric Health 7 (gennaio 2020): 2333794X2095892. http://dx.doi.org/10.1177/2333794x20958929.

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Background: Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts. Methods: We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios. Results: A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca. Conclusion: Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.

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Tidrenczel, Zsolt, Erika P. Tardy, Henriett Pikó, Edina Sarkadi, Ildikó Böjtös, János Demeter, Judit Simon, János P. Kósa e Artúr Beke. "Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature". Cytogenetic and Genome Research 158, n. 2 (2019): 63–73. http://dx.doi.org/10.1159/000500735.

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Abstract (sommario):

Terminal deletion of chromosome 4 (4q deletion syndrome) is a rare genetic condition that is characterized by a broad clinical spectrum and phenotypic variability. Diagnosis of the distinct condition can be identified by conventional chromosome analysis and small deletions by novel molecular cytogenetic methods such as microarray comparative genome hybridization (aCGH). Prenatal diagnosis is challenging; to date 10 cases have been described. We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 prenatally published cases of 4q deletion syndrome in the literature and compared these with our results. We summarize the patients' characteristics and prenatal clinical findings. Alterations of maternal serum biochemical factors, an elevated combined risk for trisomies, and distinct ultrasonographic findings can often be observed in cases of prenatal 4q deletion syndrome and may facilitate the otherwise difficult prenatal diagnosis.

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48

Stryker, Richard N. "Poor Prenatal Diagnosis". National Catholic Bioethics Quarterly 14, n. 1 (2014): 31–37. http://dx.doi.org/10.5840/ncbq201414145.

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49

Jones, Warren R. "Prenatal genetic diagnosis". Medical Journal of Australia 143, n. 2 (luglio 1985): 55. http://dx.doi.org/10.5694/j.1326-5377.1985.tb122793.x.

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50

Jones, Robert A. "Prenatal genetic diagnosis". Medical Journal of Australia 143, n. 3 (agosto 1985): 127. http://dx.doi.org/10.5694/j.1326-5377.1985.tb122845.x.

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