Статті в журналах: "Prental diagnosis"

1

Ville, Y. "Congenital CMV infection — prental diagnosis and prenatal care." Journal of Clinical Virology 36 (January 2006): S5—S6. http://dx.doi.org/10.1016/s1386-6532(06)80709-2.

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2

Megier, P., and A. Desroches. "Prental color Doppler diagnosis of placenta previa accreta." Ultrasound in Obstetrics & Gynecology 4, no. 5 (September 1, 1994): 437. http://dx.doi.org/10.1046/j.1469-0705.1994.04050437.x.

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3

Root, Mariah C., and Kelsy L. Fisher. "Prenatal Sonographic Detection of Ebstein’s Anomaly." Journal of Diagnostic Medical Sonography 33, no. 3 (February 4, 2017): 225–30. http://dx.doi.org/10.1177/8756479317691237.

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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.

4

Fountain-Dommer, Robin R., Scott M. Bradley, Andrew M. Atz, Martha R. Stroud, Geoffrey A. Forbus, and Girish S. Shirali. "Outcome following, and impact of, prenatal identification of the candidates for the Norwood procedure." Cardiology in the Young 14, no. 1 (February 2004): 32–38. http://dx.doi.org/10.1017/s1047951104001064.

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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.

5

Lazow, Stefanie P., Danielle M. Richman, Beatrice Dionigi, Steven J. Staffa, Carol B. Benson, and Terry L. Buchmiller. "Prenatal Imaging Diagnosis of Suprarenal Lesions." Fetal Diagnosis and Therapy 48, no. 3 (2021): 235–42. http://dx.doi.org/10.1159/000512689.

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

6

Gorla, Sudheer R., Abhishek Chakraborty, Ashish Garg, Rubee A. Gugol, Richard E. Kardon, and 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, no. 3 (December 26, 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.

7

Kang, Jiun. "The Promise of Whole-exome Sequencing for Prenatal Genetic Diagnosis." Current Pharmacogenomics and Personalized Medicine 17, no. 1 (April 28, 2020): 25–31. http://dx.doi.org/10.2174/1875692117666191106105918.

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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.

8

Bratt, Ewa-Lena, Stina Järvholm, Britt-Marie Ekman-Joelsson, Antje Johannsmeyer, Sven-Åke Carlsson, Lars-Åke Mattsson, and Mats Mellander. "Parental reactions, distress, and sense of coherence after prenatal versus postnatal diagnosis of complex congenital heart disease." Cardiology in the Young 29, no. 11 (September 16, 2019): 1328–34. http://dx.doi.org/10.1017/s1047951119001781.

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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.

9

Khatib, Ghanim. "Prenatal Diagnosis of Congenital Mesoblastic Nephroma." Perinatal Journal 21, no. 2 (August 1, 2013): 85–88. http://dx.doi.org/10.2399/prn.13.0212007.

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10

Dasari, Papa, and Pratima Aggrawal. "Prenatal diagnosis of congenital fetal malformations medically terminated: a retrospective analysis." New Indian Journal of OBGYN 8, no. 1 (July 2021): 62–68. http://dx.doi.org/10.21276/obgyn.2021.8.1.13.

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11

Hafner, Erich. "Prenatal diagnosis." Hamdan Medical Journal 5, no. 3 (2012): 213. http://dx.doi.org/10.7707/hmj.v5i3.196.

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12

DiLiberti, J. H., M. A. Greenstein, and S. S. Rosengren. "Prenatal Diagnosis." Pediatrics in Review 13, no. 9 (September 1, 1992): 334–42. http://dx.doi.org/10.1542/pir.13-9-334.

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13

Texler, K. C. "Prenatal diagnosis." Medical Journal of Australia 152, no. 3 (February 1990): 149. http://dx.doi.org/10.5694/j.1326-5377.1990.tb125125.x.

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14

Lippman, A. "Prenatal diagnosis." American Journal of Public Health 89, no. 10 (October 1999): 1592–93. http://dx.doi.org/10.2105/ajph.89.10.1592.

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15

Begum, Rashida. "Prenatal Diagnosis." Bangladesh Journal of Obstetrics & Gynaecology 31, no. 2 (October 12, 2017): 61–62. http://dx.doi.org/10.3329/bjog.v31i2.34211.

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16

BAUMANN, P., and B. MCFARLIN. "Prenatal diagnosis." Journal of Nurse-Midwifery 39, no. 2 (March 1994): S35—S51. http://dx.doi.org/10.1016/0091-2182(94)90063-9.

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17

Reddy, Pramod P., and James Mandell. "PRENATAL DIAGNOSIS." Urologic Clinics of North America 25, no. 2 (May 1998): 171–80. http://dx.doi.org/10.1016/s0094-0143(05)70005-7.

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18

Mackie Ogilvie, Caroline, and Frances Flinter. "Prenatal diagnosis." Lancet 366, no. 9492 (October 2005): 1159–60. http://dx.doi.org/10.1016/s0140-6736(05)67471-5.

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19

Eiben, Bernd, and Ralf Glaubitz. "Prenatal diagnosis." Lancet 366, no. 9492 (October 2005): 1161–62. http://dx.doi.org/10.1016/s0140-6736(05)67473-9.

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20

Somerville, Margaret. "Prenatal diagnosis." Lancet 366, no. 9492 (October 2005): 1162. http://dx.doi.org/10.1016/s0140-6736(05)67474-0.

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21

Carlson, Laura M., and Neeta L. Vora. "Prenatal Diagnosis." Obstetrics and Gynecology Clinics of North America 44, no. 2 (June 2017): 245–56. http://dx.doi.org/10.1016/j.ogc.2017.02.004.

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22

Davis, Alison. "PRENATAL DIAGNOSIS." Lancet 334, no. 8671 (November 1989): 1104. http://dx.doi.org/10.1016/s0140-6736(89)91122-7.

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23

Johnson, Timothy R. B. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 3, no. 2 (April 1991): 219–20. http://dx.doi.org/10.1097/00001703-199104000-00009.

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24

&NA;. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 5, no. 2 (April 1993): 267???288. http://dx.doi.org/10.1097/00001703-199304000-00016.

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25

Ludmir, Jack. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 8, no. 2 (April 1996): 129???132. http://dx.doi.org/10.1097/00001703-199604000-00009.

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26

Ludmir, Jack. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 9, no. 2 (April 1997): 107–8. http://dx.doi.org/10.1097/00001703-199704000-00006.

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27

Chescheir, Nancy. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 16, no. 2 (April 2004): 151. http://dx.doi.org/10.1097/00001703-200404000-00009.

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28

De Ponte, Francesco Saverio, Davide Johan Bottini, Eugenio Maggi, Emanuele Marchetti, Piero Cascone, and Giorgio lannetti. "Prenatal Diagnosis." Journal of Craniofacial Surgery 9, no. 2 (March 1998): 190–95. http://dx.doi.org/10.1097/00001665-199803000-00020.

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29

Saili, Arvind, Savita Jha, and Babu Madarkar. "Prenatal Diagnosis." Journal of Neonatology 28, no. 1 (March 2014): 28–32. http://dx.doi.org/10.1177/0973217920140106.

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30

Ghai, Anita, and Rachana Johri. "Prenatal Diagnosis." Indian Journal of Gender Studies 15, no. 2 (May 2008): 291–316. http://dx.doi.org/10.1177/097152150801500205.

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31

Langford, K. "Prenatal diagnosis." Current Obstetrics & Gynaecology 11, no. 5 (October 2001): 313–14. http://dx.doi.org/10.1054/cuog.2001.0202.

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32

Rodrigo, Nalinda. "Prenatal diagnosis." Sri Lanka Journal of Child Health 33, no. 4 (July 8, 2009): 97. http://dx.doi.org/10.4038/sljch.v33i4.618.

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33

Chueh, Jane. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 29, no. 2 (April 2017): 71–72. http://dx.doi.org/10.1097/gco.0000000000000352.

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34

WILLIAMSON, ROGER A. "PRENATAL DIAGNOSIS." Clinical Obstetrics and Gynecology 31, no. 2 (June 1988): 231. http://dx.doi.org/10.1097/00003081-198806000-00003.

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35

&NA;. "Prenatal Diagnosis." Clinical Obstetrics and Gynecology 31, no. 2 (June 1988): 419–20. http://dx.doi.org/10.1097/00003081-198806000-00015.

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36

Bobrow, Martin. "Prenatal diagnosis." Journal of Chemical Technology & Biotechnology 43, no. 4 (April 24, 2007): 285–91. http://dx.doi.org/10.1002/jctb.280430408.

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37

Desforges, Jane F., Mary E. D'Alton, and Alan H. DeCherney. "Prenatal Diagnosis." New England Journal of Medicine 328, no. 2 (January 14, 1993): 114–20. http://dx.doi.org/10.1056/nejm199301143280208.

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38

Chueh, Jane. "Prenatal diagnosis." Current Opinion in Obstetrics and Gynecology 30, no. 2 (April 2018): 102–3. http://dx.doi.org/10.1097/gco.0000000000000446.

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39

Arensman, Robert M. "Prenatal Diagnosis." Journal of the American College of Surgeons 204, no. 1 (January 2007): A36. http://dx.doi.org/10.1016/j.jamcollsurg.2006.10.020.

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40

Rodeck, C. H. "PRENATAL DIAGNOSIS." Lancet 341, no. 8843 (February 1993): 468–69. http://dx.doi.org/10.1016/0140-6736(93)90213-z.

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41

Eiben, B., and W. Hammans. "Prenatal diagnosis." Reproduktionsmedizin 15, no. 5 (October 1999): 372–77. http://dx.doi.org/10.1007/s004440050127.

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42

Kabra, Madhulika. "Prenatal diagnosis." Indian Journal of Pediatrics 70, no. 1 (January 2003): 81–85. http://dx.doi.org/10.1007/bf02722749.

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43

Paek, Bettina, James D. Goldberg, and Craig T. Albanese. "Prenatal Diagnosis." World Journal of Surgery 27, no. 1 (January 1, 2003): 27–37. http://dx.doi.org/10.1007/s00268-002-6734-5.

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44

Cai, SP, CA Chang, JZ Zhang, RK Saiki, HA Erlich, and YW Kan. "Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes." Blood 73, no. 2 (February 1, 1989): 372–74. http://dx.doi.org/10.1182/blood.v73.2.372.bloodjournal732372.

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We used in vitro DNA amplification by the polymerase chain reaction and nonradioactive probes for prenatal diagnosis of beta thalassemia in Chinese from the Guangdong province. Exact molecular diagnoses were made in all 20 fetuses studied over a 6-month period. We conclude that this method of prenatal diagnosis for beta thalassemia is a viable approach in many parts of the world where this disease is common.

45

Gordon, Jon W. "Prenatal diagnosis today: The morality of prenatal diagnosis." Human Reproduction 10, no. 4 (April 1995): 767–68. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136034.

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46

Rosenmann, Eliezer, Ada Rosenmann, Zvi Ne'eman, Aby Lewin, Idit Bejarano-Achache, and Anat Blumenfeld. "Prenatal Diagnosis of Oculocutaneous Albinism Type I: Review and Personal Experience." Pediatric and Developmental Pathology 2, no. 5 (September 1999): 404–14. http://dx.doi.org/10.1007/s100249900143.

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Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caused by the lack of tyrosinase activity. Affected families seek genetic counseling and prenatal diagnosis as preventive measures. Until recently, prenatal diagnosis of OCA I was achieved by histologic and electron microscopic examination of fetal skin biopsies. Lately, a molecular genetic approach has become possible by the identification of the two mutated copies of the TYR gene, coding the tyrosinase, in which over 60 mutations have been identified. We report here our experience in prenatal diagnosis of OCA I using the two strategies. Thirty-four prenatal tests were performed in fetuses at risk for OCA I. In 31 cases the diagnosis was made in fetal scalp biopsies using the histological approach. The microscopic observations revealed normal melanogenesis in 26 biopsies. Five albino fetuses were diagnosed by the demonstration of arrest of melanogenesis in early stages I and II. In three pregnancies, molecular genetic tests were performed on DNA extracted from amniocytes, using direct mutation analysis (in one), and complemented by linkage analysis (in two). One albino and two normally pigmented fetuses were diagnosed. The prenatal molecular genetic test can be applied to families when at least one mutation is diagnosed in the albino patient. The histological approach is applicable in all families at risk for OCA I.

47

Kiiski, Kirsi, Tiiu Roovere, Riina Zordania, Harriet von Koskull, and Nina Horelli-Kuitunen. "Prenatal Diagnosis of 17p13.1p13.3 Duplication." Case Reports in Medicine 2012 (2012): 1–5. http://dx.doi.org/10.1155/2012/840538.

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We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding) performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA). In addition Prenatal BACs-on-Beads (PN_BoBs) assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

48

Cai, SP, CA Chang, JZ Zhang, RK Saiki, HA Erlich, and YW Kan. "Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes." Blood 73, no. 2 (February 1, 1989): 372–74. http://dx.doi.org/10.1182/blood.v73.2.372.372.

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Abstract We used in vitro DNA amplification by the polymerase chain reaction and nonradioactive probes for prenatal diagnosis of beta thalassemia in Chinese from the Guangdong province. Exact molecular diagnoses were made in all 20 fetuses studied over a 6-month period. We conclude that this method of prenatal diagnosis for beta thalassemia is a viable approach in many parts of the world where this disease is common.

49

Sampietro, M., G. Camerino, M. Romano, M. D. Cappellini, G. Fiorelli, B. Brambati, S. Guerneri, et al. "Combined Use of DNA Probes in First-Trimester Prenatal Diagnosis of Hemophilia A." Thrombosis and Haemostasis 58, no. 04 (1987): 988–92. http://dx.doi.org/10.1055/s-0038-1646042.

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SummaryFirst-trimester prenatal diagnoses of hemophilia A were heretofore obtained by using either intragenic factor VIII markers or linked cxtragcnic polymorphic markers. Postulating that the combined use of all the available intragenic and extragenic markers can render such diagnoses more frequently feasible and more reliable, we carried out ten first-trimester prenatal diagnoses in male fetuses at risk for hemophilia A by DNA analysis of chorionic villus employing in combination the intragenic Bcl I polymorphism and the St 14 (DXS 52) or DX 13 (DXS 15) extragenic probes. A diagnosis of hemophilia was obtained in three fetuses, with a diagnosis of normal fetus obtained in the remaining seven. Seven diagnoses are confirmed by factor VIII assays carried out at the time of abortion, in the mid-Trimester or at birth. A factor VIII probe recognizing Bcl I polymorphism was useful in 4 of 6 diagnoses; St 14, in 5 of 6; and DX 13 in 3 of 5. In two cases, St 14 was the only useful probe for diagnosis. Even though no recombination between extragenic probes and factor VIII gene was detected in this study, when only extragenic markers were informative we advised diagnostic confirmation on fetal plasma obtained by fetoscopy. Hence, first-trimester prenatal diagnosis of hemophilia A is feasible for the great majority of fetuses at risk through combined use of all the available intragenic and extragenic probes, providing key family members are available.

50

Rai, Lavanya, Akhila Vasudeva, Sapna V. Amin, Rajagopal Kadavigere, and Katta M. Girisha. "Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases." International Journal of Infertility & Fetal Medicine 6, no. 2 (2015): 88–91. http://dx.doi.org/10.5005/jp-journals-10016-1107.

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ABSTRACT Prenatal diagnosis of intracranial tumors generally implies a poor prognosis. We present three such cases, where prognostication was difficult. We attempted to correlate our prenatal counseling with postnatal follow-up/postabortal diagnosis. In the first case, tumor was diagnosed at 37 weeks. Ultrasound and fetal/neonatal MRI suggested a malignant intraventricular tumor. Anticipating guarded prognosis, parents refused neurosurgical intervention. At 1 year, child has normal neurodevelopment. Further magnetic resonance imagings (MRIs) show tumor shrinkage, pointing to a benign tumor. In case two, a choroid plexus tumor was diagnosed at midtrimester anomaly scan. Since it was difficult to rule out a malignant tumor, pregnancy was terminated. However, MRI, autopsy, and histopathology confirmed a choroid plexus papilloma, which is known to have good prognosis. In case three, prenatal MRI showed features of neurological involvement in tuberous sclerosis. However child has no neurological manifestations at 1 year of age. Hence, prognostication of prenatally diagnosed brain tumors remains a challenge. How to cite this article Vasudeva A, Amin SV, Kadavigere R, Girisha KM, Rai L. Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases. Int J Infertil Fetal Med 2015;6(2):88-91.

Статті в журналах з теми "Prental diagnosis"

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