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Journal articles on the topic 'Prenatal diagnosis'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Gorbunov, D. V., and 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, no. 5 (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/n

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2

ACAR, Züat, Işıl TURAN BAKIRCI, Deniz Kanber ACAR, and 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, no. 5 (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 confirme

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3

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

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4

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

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5

Baumiller, Robert. "Prenatal Diagnosis." Ethics & Medics 20, no. 11 (1995): 3–4. http://dx.doi.org/10.5840/em1995201122.

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6

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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7

DiLiberti, John H., Mark A. Greenstein, and Sally Shulman Rosengren. "Prenatal Diagnosis." Pediatrics In Review 13, no. 9 (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 understan

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8

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

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9

Lippman, A. "Prenatal diagnosis." American Journal of Public Health 89, no. 10 (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, no. 2 (1988): 231. http://dx.doi.org/10.1097/00003081-198806000-00003.

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11

&NA;. "Prenatal Diagnosis." Clinical Obstetrics and Gynecology 31, no. 2 (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, and Giorgio lannetti. "Prenatal Diagnosis." Journal of Craniofacial Surgery 9, no. 2 (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, no. 2 (1991): 219–20. http://dx.doi.org/10.1097/00001703-199104000-00009.

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14

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

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15

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

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16

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

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17

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

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18

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

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19

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

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20

Saili, Arvind, Savita Jha, and Babu Madarkar. "Prenatal Diagnosis." Journal of Neonatology 28, no. 1 (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, no. 2 (2017): 71–72. http://dx.doi.org/10.1097/gco.0000000000000352.

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22

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

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23

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

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24

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

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25

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

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26

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

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27

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

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28

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

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29

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

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30

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

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31

Paek, Bettina, James D. Goldberg, and Craig T. Albanese. "Prenatal Diagnosis." World Journal of Surgery 27, no. 1 (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, no. 8843 (1993): 468–69. http://dx.doi.org/10.1016/0140-6736(93)90213-z.

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33

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

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34

Reddy, Pramod P., and James Mandell. "PRENATAL DIAGNOSIS." Urologic Clinics of North America 25, no. 2 (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, no. 4 (2009): 97. http://dx.doi.org/10.4038/sljch.v33i4.618.

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36

BAUMANN, P., and B. MCFARLIN. "Prenatal diagnosis." Journal of Nurse-Midwifery 39, no. 2 (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, no. 4 (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, no. 4 (1995): 767–68. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136034.

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39

Okhundjanovich, Daminov Akmal, and Olimjonova Guzal Olimjon qizi. "Prenatal diagnostic method." International Journal of Medical Sciences And Clinical Research 5, no. 4 (2025): 22–23. https://doi.org/10.37547/ijmscr/volume05issue04-04.

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Prenatal diagnostic methods are becoming very popular these days. This method is based onthe early detection of pregnancy-related problems, including potential genetic diseases. Prenatal diagnosis identifies all problems before birth, anatomical and physiological problems related to the health of the zygote, embryo or fetus. Prenatal diagnosis refers to the testing and evaluation of a fetus before birth to detect genetic, chromosomal, structural, or metabolic disorders. It helps in early identification of potential health issues, allowing for informed decision-making and possible interventions

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40

Jouzová, Anna, Lukáš Hruban, Jakub Turek, et al. "Prenatal diagnosis in estimating the prognosis of sacrococcygeal teratoma." Česká gynekologie 89, no. 3 (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 diagnosti

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41

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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<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 p

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42

Wolter, Aline, Marie Gebert, Christian Enzensberger, 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, no. 05 (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 (TO

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43

Zvanca, Mona, and Cristian Andrei. "Prenatal Diagnosis of Neuroblastoma." Donald School Journal of Ultrasound in Obstetrics and Gynecology 8, no. 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 t

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44

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 (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

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45

Schäfer, D., J. Arnemann, E. Brude, and R. Baumann. "Prenatal diagnosis today: Society must decide about prenatal diagnosis." Human Reproduction 10, no. 4 (1995): 768–69. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136035.

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46

Pachajoa, Harry, Katherine Tabares, Juan Carlos Quintero, Wilmar Saldarriaga, and Carolina Isaza. "Prenatal diagnosis of cyclopia associated to trisomy 13." Colombia Medica 39, no. 1 (2008): 80–85. http://dx.doi.org/10.25100/cm.v39i1.553.

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A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.

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47

Shields, Lisa B. E., Jeffrey T. White, Dennis S. Peppas, and Eran Rosenberg. "Challenges in the Prenatal Diagnosis of Cloaca." Global Pediatric Health 7 (January 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

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48

Tidrenczel, Zsolt, Erika P. Tardy, Henriett Pikó, et al. "Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature." Cytogenetic and Genome Research 158, no. 2 (2019): 63–73. http://dx.doi.org/10.1159/000500735.

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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

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49

Sofronova, Viktoriia, Lyutsiya Gotovtseva, Anastasia Danilova, et al. "Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)." Genes 14, no. 8 (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 t

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50

Ravi, Neha, Sailesh Kumar, and Aparna Ramachandran. "Prenatal Diagnosis of ACTG2-Related Megacystis–Microcolon–Intestinal Hypoperistalsis Syndrome—Case Report and Systematic Review." Journal of Clinical Medicine 14, no. 9 (2025): 3204. https://doi.org/10.3390/jcm14093204.

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Background/Objectives: Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by smooth muscle dysfunction and results in severe bladder dilatation and intestinal dysmotility. Prenatal diagnosis is challenging due to the non-specific nature of ultrasound findings and the limitations of current genetic testing. We present a case of persistent fetal megacystis, with genetic testing confirming MMIHS, and a systematic review of prenatally diagnosed cases. Methods: An electronic search of the PubMed, Medline, Web of Science and CORE databases was conducted to identify re

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