[Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

Science.gov (United States)

Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

2015-04-01

For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

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Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

2009-09-01

A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

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Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M.; Schoubroeck, D.Van; Witters, I.; Deprest, J.; Vanhole, C.; Casaer, P.

2003-01-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

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Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

2003-07-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

Antenatal diagnosis of anophthalmia by three-dimensional ultrasound: a novel application of the reverse face view.

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Wong, H S; Parker, S; Tait, J; Pringle, K C

2008-07-01

The prenatal diagnosis of anophthalmia can be made on the demonstration of absent eye globe and lens on the affected side(s) on two-dimensional ultrasound examination, but when the fetal head position is unfavorable three-dimensional (3D) ultrasound may reveal additional diagnostic sonographic features, including sunken eyelids and small or hypoplastic orbit on the affected side(s). We present two cases of isolated anophthalmia diagnosed on prenatal ultrasound examination in which 3D ultrasound provided additional diagnostic information. The reverse face view provides valuable information about the orbits and the eyeballs for prenatal diagnosis and assessment of anophthalmia.

Prenatal Diagnosis

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Ozge Ozalp Yuregir

2012-02-01

Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

Role of fetal autopsy as a complementary tool to prenatal ultrasound.

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Godbole, Koumudi; Bhide, Vijayshri; Nerune, Savitri; Kulkarni, Aparna; Moghe, Mrinalini; Kanade, Asawari

2014-11-01

To correlate and compare prenatal ultrasound with fetal autopsy examination to detect structural births defects and provide specific diagnoses. 141 second trimester fetuses (autopsy findings in 41/141 (29.07%) cases, additional information that did not influence the final diagnosis and/or counseling was obtained by autopsy in 65/1416 (46.09%) cases, while additional information that influenced the final diagnosis and/or counseling was provided by autopsy in 35/141 (24.82%) cases. Fetal autopsy serves as a complementary tool to fetal ultrasound due to its ability to pick up minor anomalies and/or anomalies that were missed on ultrasound. It may be routinely performed as an attempt to reach a specific diagnosis and offer appropriate counseling to couples, following pregnancy termination for fetal anomalies.

Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

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Boyd, PA; Wellesley, DG; De Walle, HEK; Tenconi, R; Garcia-Minaur, S; Zandwijken, GRJ; Stoll, C; Clementi, M

2000-01-01

Objective-Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. Setting-Prenatal ultrasound units in areas that report to contributing congenital malformation registers. Methods-All cases with a suspected or confirmed neural tube

Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.

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Liu, Rong; Chen, Xin-lin; Yang, Xiao-hong; Ma, Hui-jing

2015-12-01

This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy. Pregnancy was terminated in all 10 sirenomelia cases, including 9 singletons and 1 conjoined twin pregnancy, for a total of 5 males and 5 females. These cases of sirenomelia were determined by autopsy and/or chromosomal examination. Initial 2D-US showed that there were 10 cases of oligohydramnios, bilateral renal agenesis, bladder agenesis, single umbilical artery, fusion of the lower limbs and spinal abnormalities; 8 cases of dipus or monopus; 2 cases of apus; and 8 cases of cardiac abnormalities. Subsequent 3D-SUIS showed that there were 9 cases of scoliosis, 10 cases of sacrococcygeal vertebra dysplasia, 3 cases of hemivertebra, 1 case of vertebral fusion, 3 cases of spina bifida, and 5 cases of rib abnormalities. 3D-SUIS identified significantly more skeletal abnormalities than did 2D-US, and its accuracy was 79.5% (70/88) compared with 3D-HCT and radiography. 3D-SUIS seems to be a useful complementary method to 2D-US and may improve the accuracy of identifying prenatal skeletal abnormalities related to sirenomelia.

Prenatal diagnosis of bilateral anophthalmia by 3D "reverse face" view ultrasound and magnetic resonance imaging.

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Araujo Júnior, Edward; Kawanami, Tatiana Emy; Nardozza, Luciano Marcondes Machado; Milani, Hérbene José Figuinha; Oliveira, Patrícia Soares; Moron, Antonio Fernandes

2012-12-01

Primary anophthalmia is a rare congenital malformation that affects 0.6/10,000 liveborn infants. It is usually associated with central nervous system malformations, aneuploidies, cytomegalovirus infection and mental retardation and it can also be part of genetic conditions such as Fraser, Goltz, Goldenhar, Waardenburg and Lenz syndromes. Neonatal prognosis depends on whether anophthalmia is an isolated malformation, or it is associated with other defects or part of a syndrome. A healthy 43-year-old woman, G4 P3 with three previous healthy children, was referred to our clinic for a routine obstetric ultrasound at 28 weeks' gestation. The fetal eye globes and lenses could not be seen on two-dimensional (2D) ultrasound, which led to the diagnosis of bilateral congenital anophthalmia. No other fetal malformations were detected. At 30 weeks' gestation, a three-dimensional (3D) ultrasound was performed using the rendering mode and "reverse face" view. Using this technique, the absence of both eye globes could be clearly seen through a "slit". 3D-ultrasound allowed the parents to better understand their child's problem and possible postnatal implications. Fetal magnetic resonance imaging (MRI) was also performed, to study the fetal cortex in more detail. This exam revealed right cerebral hemisphere sulci and gyri hypoplasia. At 41 1/7 weeks, she went into spontaneous labor and delivered vaginally a 3525 g male infant with Apgar scores of 9 and 10. Postnatal exams confirmed bilateral congenital anophthalmia. This is the first case report in the literature of prenatal diagnosis of bilateral anophthalmia using 3D "reverse face" view ultrasound and MRI. Copyright © 2012. Published by Elsevier B.V.

Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

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Satija, Bhawna; Kumar, Sanyal; Wadhwa, Leena; Gupta, Taru; Kohli, Supreethi; Chandoke, Rajkumar; Gupta, Pratibha

2015-01-01

Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG) with color Doppler (CDUS) and magnetic resonance imaging (MRI) in prenatal diagnosis of placenta accreta. Prospective study in a tertiary care setup. A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta). All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity) and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity). MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity) and absence of placenta accreta in 17 out of 22 patients (77.3% specificity). There were no statistical differences in sensitivity (P = 1.00) and specificity (P = 0.687) between USG and MRI. Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however, specificity does not appear to be as good as reported in other studies. Both modalities have complimentary

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis

Science.gov (United States)

Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-01-01

Abstract Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. PMID:29390297

Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

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Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

2014-03-01

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. © 2014 Wiley Periodicals, Inc.

Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

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Ching-Yu Chou

2015-03-01

Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

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Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

2017-06-01

We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

Right aortic arch with aberrant left subclavian artery—prenatal diagnosis and evaluation of postnatal outcomes: Report of three cases

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Kuei-Cheng Hsu

2011-09-01

Conclusion: The 3VT view in routine prenatal ultrasound examination is important and essential for the prenatal diagnosis of an RAA with an aberrant LSCA. Moreover, 3D-PDU is able to provide a more clear-cut cardiovascular structure, which helps with the diagnosis.

Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

Science.gov (United States)

Wilson, R Douglas

2014-10-01

To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

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Strauss, Ronald P

2002-03-01

The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

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Gianfranca Damiani

2014-09-01

Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

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Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

2007-07-01

To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

Prenatal diagnosis of Neu-Laxova syndrome: a case report

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Polat Ibrahim

2002-02-01

Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.

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Wünsche, S; Jüngert, J; Faschingbauer, F; Mommsen, H; Goecke, T; Schwanitz, K; Stepan, H; Schneider, H

2015-08-01

Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions. © Georg Thieme Verlag KG Stuttgart · New York.

Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

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Andersen, P.E. Jr.; Hauge, M.; Bang, J.

1988-01-01

Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

Recommendations for the use of microarrays in prenatal diagnosis.

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Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluis; Antolín, Eugenia; Domínguez Garrido, Elena; Trujillo-Tiebas, María José; Rosell, Jordi; García Planells, Javier; Cigudosa, Juan Cruz

2017-04-07

Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Prenatal Diagnosis and Postnatal Ultrasound Findings of Cloacal Anomaly: A Case Report

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Lívia Teresa Moreira Rios

2012-01-01

Full Text Available Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2 at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly.

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

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Gürel, Sebahat Atar

2015-04-01

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

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Chitty, Lyn S.; Khalil, Asma; Barrett, Angela N.; Pajkrt, Eva; Griffin, David R.; Cole, Tim J.

2013-01-01

To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Fetuses with a confirmed

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

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Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

2016-05-15

Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

Diastrophic dysplasia: prenatal diagnosis and review of the literature

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Jonathan Celli Honório

Full Text Available CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene. Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions and mesomelia (shortening of the intermediate portions. Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

Ultrasound demonstration of prenatal renal vein thrombosis

International Nuclear Information System (INIS)

Sanders, L.D.; Jequier, S.

1989-01-01

This case report illustrates the sonographic appearance of such calcifications which to our knowledge have not been described. We observed abnormalities on a prenatal ultrasound at 37 weeks of gestation and calcifications within the kidney on ultrasound during the neonatal period in an infant of a mother with Class B diabetes mellitus. (orig.)

Value of prenatal MRI in early evaluation of fetal central nervous system anomalies

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Kobayashi, Keiichi [Kugayama Hospital, Tokyo (Japan); Nakamura, Masanao; Hino, Ken [Kyorin Univ., Mitaka, Tokyo (Japan). School of Medicine] [and others

2002-08-01

Advances in technology and the need for accurate prenatal diagnoses have produced great improvements in fetal diagnosis by MRI. However, there are still many problems with diagnosis of central nervous system (CNS) anomalies using MRI (e.g., time of diagnosis, factors limiting diagnostic ability. Fifteen cases referred to our clinic from 1992 to 2001 and examined using intrauterine ultrasound, prenatal MRI and postnatal MRI were reviewed retrospectively. All clinical records and findings from prenatal MRI, postnatal MRI and ultrasound were reviewed. Prenatal MRI was found to be equal in diagnostic power to ultrasound and postnatal MRI in 10 of the 15 cases. In the remaining 5 fetuses, the findings of prenatal MRI were not the same to those of prenatal ultrasound and postnatal MRI. Our goal was to determine the value of prenatal MRI in diagnosis of fetal CNS anomalies, to ascertain how this information might be used for counseling, and to assess its impact on pregnancy management. Prenatal MRI provided useful information for support personnel (e.g., physicians, nurses, caseworkers, religious advisers). (author)

[Magnetic resonance imaging as a prenatal diagnostic tool supplementary to ultrasound in diagnosing fetal and gestational abnormalities].

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Porat, Shay; Agid, Ronit; Elchalal, Uriel; Ezra, Yossi; Gomori, J Moshe; Nadjari, Michelle

2002-04-01

The use of Magnetic Resonance Imaging (MRI) as a prenatal and gestational imaging modality supplementary to ultrasound has become widespread with the advent of rapid MR sequences in the last few years. These sequences allow acquisition of high-resolution images of the fetus in a single breath-holding period of the mother, with minimal fetal motion artifacts. We describe our experience with this modality in the diagnosis of prenatal and gestational abnormalities. The study population consisted of 39 pregnant women who had a total of 40 MRI examinations from 7/1998 to 7/2000. The indication for all examinations was a suspected fetal or gestational abnormality as suggested by ultrasound scan, laboratory tests or by family history. In 31 cases (77.5%) a correlation was found between the ultrasound findings and the MR imaging, of which in 6 cases (15%) the MRI added new valuable information. In 9 cases (22.5%) the MRI ruled out findings suspected by ultrasound. The prenatal findings were compared with postnatal clinical follow-up, imaging or pathology report in 26 cases (66.6%). In two cases the clinical outcome and postnatal imaging were discordant with the prenatal imaging findings in ultrasound and MRI. Although not proven, MRI is considered safe during pregnancy because it does not use ionizing radiation. It depicts fetal anatomy and pathology well. Also uterine, placental and other maternal structures are well demonstrated. This tool is useful in cases in which there is a suspicion of a malformed fetus or abnormal placenta by an ultrasound examination or in cases in which an ultrasound examination is limited by technical factors. MRI was found to help parents and doctors decide about the fate of a suspected abnormal pregnancy by adding valuable information supplemental to ultrasound examination.

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.

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Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-12-01

Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report.

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Dosedla, Erik; Kalafusová, Michaela; Calda, Pavel

2012-01-01

We report the early prenatal ultrasound diagnosis of sirenomelia apus at 12+4 weeks in a patient with trimethoprim exposure in the vulnerable period. First-trimester scan revealed a malformed fetus with one femur, one small tibia, no feet, intraabdominal unilocular cystic structure, and two-vessel umbilical cord with allantoic cyst. Ultrasound visualization with two/three/four-dimensions was helpful in the process of parental counseling. Copyright © 2012 Wiley Periodicals, Inc.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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Yau, Mabel; Khattab, Ahmed; New, Maria I

2016-06-01

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

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Tuba Günel

2014-12-01

Full Text Available Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved. Non-invasive prenatal diagnosis found ground in genetics and the results are widely studied in scientific arena. When Lo and colleges proved fetal genetic material can be extracted from maternal plasma and fetal DNA can be isolated from maternal serum, the gate to many exciting discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a profound knowledge in genetics. Prevailing practical use and application of fetal genomic tests in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as İstanbul University Fetal Nucleic Acid Research Group.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

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Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

2018-03-31

To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

Prenatal diagnosis of congenital mesoblastic nephroma associated with renal hypertension in a premature child.

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Siemer, Stefan; Lehmann, Jan; Reinhard, Harald; Graf, Norbert; Löffler, Gerhard; Hendrik, Hand; Remberger, Klaus; Stöckle, Michael

2004-01-01

In the present article, we report, for the first time, a prenatal diagnosis of a congenital mesoblastic nephroma in combination with a post-partum hyperreninemia with hypertension. A newborn was delivered at 35 weeks gestation who had an intrauterine diagnosis of a renal mass as early as 32 weeks gestational age by ultrasound examination. Tumor nephrectomy was performed on day 11 after delivery when an increase in hypertension was observed in the newborn.

Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

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Poornima Kadagad

2011-01-01

Full Text Available Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft.

Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

Science.gov (United States)

Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

2011-01-01

Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft. PMID:22279286

Human prenatal diagnosis

International Nuclear Information System (INIS)

Filkins, K.; Russo, R.J.

1985-01-01

The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis

[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

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Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

2017-10-25

Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

Prenatal diagnosis of monocephalic bifacial tetraophthalmic diprosopus (conjoined twin).

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Dhaifalah, I; Curtisova, V; Santavy, J

2008-01-01

A case of diprosopus twinning which is rare conjoined twinning is reported prenatally at 22 weeks' gestation. 2D ultrasound examinations showed duplication of the craniofacial structures with four hemispheres, two cerebella and two thalami. There were three orbits two external ears, two noses, fused adjacent maxilla and two oral cavities with two fused oral opening and two jaws. The woman did not consent to any further investigations and the pregnancy was terminated. The postmortem examination confirmed the diagnosis in a male fetus with a crown-rump length of 155 mm, weighing 450 g. The body appeared normal except for a small poorly formed rudiment of a supernumerary digit next to the thumb of the right hand. The ultrasound examination and postmortem finding of this case is described with a short review of the literature. (c) 2007 S. Karger AG, Basel

Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging.

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Sahinoglu, Zeki; Yapicier, Ozlem; Ozcan, Nahit

2016-10-01

Periventricular nodular heterotopia (PNH) is usually missed on prenatal sonographic examinations, even on targeted scans. Irregular ventricular walls on axial view and irregular square-shaped lateral ventricles on coronal view are suggestive of PNH in the early third trimester. To achieve an early prenatal diagnosis, it is important to keep in mind the possible coexistence of PNH with brain malformations such as ventriculomegaly, posterior fossa anomalies, or agenesis of corpus callosum. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:510-513, 2016. © 2016 Wiley Periodicals, Inc.

Prenatal diagnosis: the irresistible rise of the 'visible fetus'.

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Löwy, Ilana

2014-09-01

Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution. Copyright © 2013 Elsevier Ltd. All rights reserved.

First trimester diagnosis of parapagus diprosopus dibrachius dipus twins with cranirachischisis totalis by three-dimensional ultrasound.

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Ülker, Kahraman; Akyer, Şahika P; Temur, İsmail; Tan, Temel; Karaca, Mehmet; Adıgüzel, Esat; Gül, Abdülaziz

2012-02-01

Parapagus (laterally fused), diprosopus (two faces), dibrachius (two upper extremities), dipus (two lower extremities) conjoined twinning is extremely rare. The coexistence of anencephaly with a contiguous spinal defect (craniorachischisis totalis) makes the present case one of the rarest of the published cases. In our case, it was difficult to make the final diagnosis by two-dimensional abdominal and vaginal ultrasound. Three-dimensional ultrasound was helpful for final diagnosis and post-abortal examination confirmed the prenatal ultrasound diagnosis. The heart, diaphragm, liver and perineum were all united. Fine dissection of the heart showed four vessels arising from the ventricles and a membranous type ventricular septal defect. © 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.

Opportunities and challenges in prenatal diagnosis : towards personalized fetal genetics

NARCIS (Netherlands)

Lichtenbelt, K.D.

2013-01-01

In this thesis we studied the efficacy and utilization of prenatal screening and prenatal diagnosis in the Netherlands and the increasing options for prenatal genetic diagnosis in general. In chapter 1 background information on prenatal screening and diagnosis in pregnancies conceived through

Prenatal Diagnosis of Osteogenesis Imperfecta

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Özgür Özyüncü

2010-04-01

Full Text Available Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta.

Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

OpenAIRE

Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

2011-01-01

Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/...

Prenatal diagnosis of congenital ranula: Case Report

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Aytül Çorbacıoğlu Esmer

2013-12-01

Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management.

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Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W

2013-05-07

Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

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Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

2015-02-01

This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings

DEFF Research Database (Denmark)

Nørgaard, P.; Hagen, CP; Hove, H.

2012-01-01

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare condition with an approximate prevalence of 1 per 1 million newborns. We add the first report on prenatal 2D and 3D ultrasound findings in CAN. In addition we present the postnatal 3D CT findings. The diagnosis was confirmed...

Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

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Barišić, Lara Spalldi; Stanojević, Milan; Kurjak, Asim; Porović, Selma; Gaber, Ghalia

2017-08-28

With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

Prenatal Diagnosis of Congenital Cytomegalovirus Infection

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Lazzarotto, T.; Guerra, B.; Spezzacatena, P.; Varani, S.; Gabrielli, L.; Pradelli, P.; Rumpianesi, F.; Banzi, C.; Bovicelli, L.; Landini, M. P.

1998-01-01

We report here the results of a study on the prenatal diagnosis of congenital cytomegalovirus (CMV) infection. The study was carried out by both PCR and virus isolation from amniotic fluid (AF) for 82 pregnant women at risk of transmitting CMV for the detection of (i) seroconversion to CMV immunoglobulin G (IgG) positivity during the first trimester of pregnancy, (ii) symptomatic CMV infection in the mother during the first trimester of pregnancy or intrauterine growth retardation detected by ultrasound or abnormal ultrasonographic findings suggestive of fetal infections, and (iii) seropositivity for CMV-specific IgM. For 50 women, fetal blood (FB) was also obtained and tests for antigenemia and PCR were performed. The results indicate that AF is better than FB for the prenatal diagnosis of CMV infection. PCR with AF has a sensitivity (SNS) of 100%, a specificity (SPE) of 83.3%, a positive predictive value (PPV) of 40%, and a negative predictive value (NPV) of 100%; rapid virus isolation with the same material has an SNS of 50%, an SPE of 100%, a PPV of 100%, and an NPV of 94.7%. Fewer than 10% of the women positive for IgM by enzyme immunoassay (EIA) had a congenitally infected fetus or newborn infant. When EIA IgM positivity was confirmed by Western blotting (WB) and the WB profile was considered, the percent transmission detected among women with an “at-risk” profile was higher than that observed among IgM-positive women and was the same as that among women who seroconverted during the first trimester of pregnancy (transmission rates of 29 and 25%, respectively). PMID:9817869

Prenatal Diagnosis Of Tay-Sachs Disease

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Özgür Özyüncü

2010-04-01

CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

Consumerism in prenatal diagnosis: a challenge for ethical guidelines

Science.gov (United States)

Henn, W.

2000-01-01

The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation (WHO), as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. Key Words: Genetics • prenatal diagnosis • ethics • consumerism PMID:11129845

Pai syndrome: challenging prenatal diagnosis and management

Energy Technology Data Exchange (ETDEWEB)

Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

2014-09-15

Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

International Nuclear Information System (INIS)

Gagov, E.; Iieva, E.; Gvanska, G.

2012-01-01

Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

Directory of Open Access Journals (Sweden)

Nazir Sarfraz

2008-08-01

Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea – implications for management

Science.gov (United States)

2013-01-01

Background Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. Case presentation A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21+5 weeks’ gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks’ gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. Conclusion This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Science.gov (United States)

Debost-Legrand, Anne; Goumy, Carole; Laurichesse-Delmas, Hélène; Déchelotte, Pierre; Beaufrère, Anne-Marie; Lémery, Didier; Francannet, Christine; Gallot, Denis

2013-12-01

Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Copyright © 2013 Wiley Periodicals, Inc.

Consumerism in prenatal diagnosis? A local Italian study.

Science.gov (United States)

Bellieni, C V; Maffei, M; Brogna, A; Plantulli, A; Cervo, E; Reda, M; Signorini, L; Buonocore, G; Petraglia, F

2008-01-01

To assess the causes of excessive use of prenatal diagnosis. 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May-August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. The mean number of ultrasound examinations per woman was 6.5 +/- 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 +/- 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman's gynecologist. This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data. Copyright 2008 S. Karger AG, Basel.

Prenatal diagnosis of horseshoe lung and esophageal atresia

International Nuclear Information System (INIS)

Goldberg, Shlomit; Ringertz, Hans; Barth, Richard A.

2006-01-01

We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

Prenatal diagnosis of horseshoe lung and esophageal atresia

Energy Technology Data Exchange (ETDEWEB)

Goldberg, Shlomit; Ringertz, Hans [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Barth, Richard A. [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Lucile Packard Children' s Hospital, Radiology, Palo Alto, CA (United States)

2006-09-15

We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

Science.gov (United States)

Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

2014-08-10

MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. Copyright © 2014 Elsevier B.V. All rights reserved.

[Diagnostic value of power Doppler ultrasonography for Sirenomelia Seguence in prenatal].

Science.gov (United States)

Yan, Xia-yu; Yang, Tai-zhu; Luo, Hong; Tian, Yu; Yang, Fan

2011-11-01

To study and discuss the diagnostic value and ultrasonographic characteristics of power doppler ultrasound in the prenatal diagnosis of Sirenomelia Seguence. The abdominal aorta in two fetuses with sirenomelia seguence fetuses and in ten with nomal was reviewed and compared with two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound in prenatal. The abdominal aorta were showed to divid into renal arteries in the kidney level while two common iliac arteries in the pelvis in nomal fetuses with two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound; compared with the nomal, the abdominal aorta and whose branches in sirenomelia seguence were demonstrated as follows: 1) a large and deformed vascular coming from the high abdominal aorta, which was found to act as a umbilical artery by careful examination; 2) no bifurcation of renal arteries identified; 3) no bifurcation of two common iliac arteries identified; 4) the abdominal aorta changing into a narrow vascular after one deformed vascular separating from. Sirenomelia seguence fetuses has a characteristic change in two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound, which is helpful to improve the prenatal diagnosis of sirenomelia seguence.

ORIGINAL ARTICLE Prenatal diagnosis of aneuploidy among a ...

African Journals Online (AJOL)

salah

terphase cells. Patients and Methods: Prenatal diagnosis was performed on 40 high risk ... Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies ..... of medical genetics. 9th ed.: Churchill. Livingstone; 1995. p. 23-45. Edwards and Beard: FISH studies of. 2. pre-implantation embryos and PGD.

Psychological impact of prenatal diagnosis and post procedure ...

African Journals Online (AJOL)

Prenatal diagnosis is associated with psychological challenges, which may affect the response of women before, during or after the procedure, as well as their decision on the future of an affected pregnancy. This prospective study was to evaluate the psychological impact of prenatal diagnosis, factors that may be ...

Truncus arteriosus communis in a midtrimester fetus: Comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy

International Nuclear Information System (INIS)

Muehler, Matthias R.; Lembcke, Alexander; Fischer, Thomas; Kivelitz, Dietmar; Rake, Anett; Chaoui, Rabih; Heling, Kay-Sven; Schwabe, Michael; Planke, Christiane

2004-01-01

Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed. (orig.)

Prenatal diagnosis of boomerang dysplasia.

Science.gov (United States)

Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

2003-10-01

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

International Nuclear Information System (INIS)

Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

1990-01-01

We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Science.gov (United States)

Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; Lench, Nicholas; Scott, Richard H; Chitty, Lyn S

2015-10-01

In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exome sequencing in fetuses with sonographic abnormalities but normal microarray analysis. Whole exome sequencing was performed on DNA extracted from chorionic villi or amniocytes in 24 fetuses with unexplained ultrasound findings. In the first 14 cases sequencing was initially performed on fetal DNA only. For the remaining 10, the trio of fetus, mother and father was sequenced simultaneously. In 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman-Sheldon syndrome and Baraitser-Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital syndrome type 6 was made. In two others, a single mutation in an autosomal recessive gene was identified, but incomplete sequencing coverage precluded exclusion of the presence of a second mutation. Whole exome sequencing improves prenatal diagnosis in euploid fetuses with abnormal ultrasound scans. In order to expedite interpretation of results, trio sequencing should be employed, but interpretation can still be compromised by incomplete coverage of relevant genes. © 2015 John Wiley & Sons, Ltd.

Prenatal ultrasound findings of fetal neoplasms

International Nuclear Information System (INIS)

Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

2002-01-01

A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical and ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings

Role of ultrasound in the diagnosis and management of gestational trophoblastic disease in Rural health facilities- A case report

International Nuclear Information System (INIS)

Bach, J.F.H.

2015-01-01

Gestational trophoblastic disease (GTD) is a rare kind of proliferative disorder of trophoblastic cells which develops from the placenta in early pregnancy. It can be benign, premalignant or malignant. Molar pregnancy, also known as Hydatidiform Mole, is a form of benign GTD. The complete hydatidiform mole (CHM) sub-type which limited to endometrium is most common. It has excellent prognosis if early appropriate diagnosis and management are done. A well performed ultrasound(US) play a primordial role in the diagnosis of maternal health disorders during routine prenatal care. This helps in avoiding complications and consequently aids in achieving the objectives of the Millennium Development Goals (MDGs) in Rwanda. To understand the definition of Gestational trophoblastic disease(GTD) and to recognize key diagnostic findings of complete molar pregnancy on ultrasound and appropriate management in maternal follow up. Review the differential diagnosis for ultrasound findings seen with GTD and other modalities Ultrasound is the first modality to be used in all rural health facilities for diagnosis of suspected Gestational trophoblastic disease (GTD) for better results. It is available and free of radiation

Review of chorionic Villus sampling in prenatal diagnosis | Oloyede ...

African Journals Online (AJOL)

Invasive prenatal diagnosis continues to be gold standard in pregnancies at increased risk of congenital abnormalities with chorionic villus sampling being one of the principal methods of prenatal diagnosis. Although not widely available in most developing countries, chorionic villus sampling is the procedure of choice for ...

Grey-scale and colour Doppler ultrasound versus magnetic resonance imaging for the prenatal diagnosis of placenta accreta.

Science.gov (United States)

Rezk, Mohamed Abd-Allah; Shawky, Mohamed

2016-01-01

To assess the effectiveness of grey-scale and colour Doppler ultrasound (US) versus magnetic resonance imaging (MRI) for the prenatal diagnosis of placenta accreta. A prospective observational study including a total of 74 patients with placenta previa and previous uterine scar (n = 74). Grey-scale and colour Doppler US was done followed by MRI by different observers to diagnose adherent placenta. Test validity of US and MRI were calculated. Maternal morbidity and mortality were also assessed. A total of 53 patients confirmed to have placenta accreta at operation. The overall sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of US was 94.34, 91.67, 96.15 and 88% compared to 96.08, 87.50, 94.23 and 91.3% for MRI, respectively. The most relevant US sign was turbulent blood flow by colour Doppler, while dark intra-placental band was the most sensitive MRI sign. Venous thromboembolism (1.3%), bladder injury (29.7%), ureteric injury (18.9%), postoperative fever (10.8%), admission to ICU (50%) and re-operation (31.1%). Placenta accreta can be successfully diagnosed by grey-scale and colour Doppler US. MRI would be more likely suggested for either posteriorly or laterally situated placenta previa in order to exclude placental invasion.

Noninvasive prenatal diagnosis for single gene disorders.

Science.gov (United States)

Allen, Stephanie; Young, Elizabeth; Bowns, Benjamin

2017-04-01

Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need for validation samples for rare disorders. Publications are emerging demonstrating a variety of technical approaches and feasibility of clinical application. Techniques for analysis of cell-free DNA including digital PCR, next-generation sequencing and relative haplotype dosage have been used most often for assay development. Analysis of circulating fetal cells in the maternal blood is still being investigated as a viable alternative and more recently transcervical trophoblast cells. Studies exploring ethical and social issues are generally positive but raise concerns around the routinization of prenatal testing. Further work is necessary to make testing available to all patients with a pregnancy at risk of a single gene disorder, and it remains to be seen if the development of more powerful technologies such as isolation and analysis of single cells will shift the emphasis of noninvasive prenatal diagnosis. As testing becomes possible for a wider range of conditions, more ethical questions will become relevant.

The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia.

Science.gov (United States)

Patel, S; Suchet, I

2004-11-01

Sirenomelia is a rare congenital abnormality characterized by a variety of anomalies involving the lower limbs, severe oligohydramnios, bilateral renal agenesis, anorectal atresia and aberrant fetal vasculature. The prenatal diagnosis and differentiation from isolated bilateral renal agenesis is severely limited by the accompanying oligohydramnios that hinders visualization of fetal anatomy. We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome.

Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations

DEFF Research Database (Denmark)

Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone

2016-01-01

ObjectivesTo estimate the prevalence of kidney anomalies at second trimester ultrasound screening, and furthermore, to investigate pregnancy outcomes and the pattern of additional malformations. MethodsWe previously identified all women attending second-trimester ultrasound scans in Denmark between...... of non-urinary malformations, comparing the prevalences in infants with and without prenatally diagnosed kidney anomalies. ResultsThe prevalence of fetuses with kidney anomalies at second trimester scans was 11.4 per 10000 fetuses. Among the 412 fetuses identified, 127 pregnancies were terminated....... For live born children the prevalence of additional non-urinary malformations was four times higher (95% CI: 3-5) compared with the prevalence among children without prenatal kidney anomalies. Digestive system anomalies were particularly prevalent. ConclusionThese population-based data provide additional...

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Science.gov (United States)

Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

2015-12-01

The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

Prenatal diagnosis of dwarfism by ultrasound screening.

OpenAIRE

Weldner, B M; Persson, P H; Ivarsson, S A

1985-01-01

In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2002-09-15

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong

2002-01-01

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

Estimation of prenatal aorta intima-media thickness from ultrasound examination

Science.gov (United States)

Veronese, E.; Tarroni, G.; Visentin, S.; Cosmi, E.; Linguraru, M. G.; Grisan, E.

2014-10-01

Prenatal events such as intrauterine growth restriction and increased cardiovascular risk in later life have been shown to be associated with an increased intima-media thickness (aIMT) of the abdominal aorta in the fetus. In order to assess and manage atherosclerosis and cardiovascular disease risk in adults and children, in recent years the measurement of abdominal and carotid artery thickness has gained a growing appeal. Nevertheless, no computer aided method has been proposed for the analysis of prenatal vessels from ultrasound data, yet. To date, these measurements are being performed manually on ultrasound fetal images by skilled practitioners. The aim of the presented study is to introduce an automatic algorithm that identifies abdominal aorta and estimates its diameter and aIMT from routine third trimester ultrasonographic fetal data. The algorithm locates the aorta, then segments it and, by modeling the arterial wall longitudinal sections by means of a gaussian mixture, derives a set of measures of the aorta diameter (aDiam) and of the intima-media thickness (aIMT). After estimating the cardiac cycle, the mean diameter and the aIMT at the end-diastole phase are computed. Considering the aIMT value for each subject, the correlation between automatic and manual end-diastolic aIMT measurements is 0.91 in a range of values 0.44-1.10 mm, corresponding to both normal and pathological conditions. The automatic system yields a mean relative error of 19%, that is similar to the intra-observer variability (14%) and much lower that the inter-observer variability (42%). The correlation between manual and automatic measurements and the small error confirm the ability of the proposed system to reliably estimate aIMT values in prenatal ultrasound sequences, reducing measurement variability and suggesting that it can be used for an automatic assessment of aIMT. Preliminary results have been presented in E Veronese, E Cosmi, S Visentin, E Grisan: 'Semiautomatic estimation

Prenatal diagnosis of dwarfism by ultrasound screening.

Science.gov (United States)

Weldner, B M; Persson, P H; Ivarsson, S A

1985-01-01

In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million. PMID:3907507

Fetal suprarenal masses - assessing the complementary role of magnetic resonance and ultrasound for diagnosis

Energy Technology Data Exchange (ETDEWEB)

Flanagan, Siobhan M. [University of Minnesota Medical School, Department of Radiology, Minneapolis, MN (United States); Rubesova, Erika; Barth, Richard A. [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Jaramillo, Diego [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States)

2016-02-15

To assess the value and complementary roles of fetal MRI and US for characterization and diagnosis of suprarenal masses. We conducted a multi-institutional retrospective database search for prenatally diagnosed suprarenal masses between 1999 and 2012 and evaluated the roles of prenatal US and fetal MRI for characterization and diagnosis, using postnatal diagnosis or surgical pathology as the reference standard. Prenatal US and fetal MRI were assessed for unique findings of each modality. The database yielded 25 fetuses (gestational age 20-37 weeks) with suprarenal masses. Twenty-one fetuses had prenatal US, 22 had MRI, 17 had both. Postnatal diagnoses included nine subdiaphragmatic extralobar sequestrations, seven adrenal hemorrhages, five neuroblastomas (four metastatic), two lymphatic malformations, one duplex kidney with upper pole cystic dysplasia, and one adrenal hyperplasia. Ultrasound was concordant with MRI for diagnoses in 12/17 (70.6%) cases. Discordant diagnoses between US and MRI included three neuroblastomas and two adrenal hemorrhages. In the three neuroblastomas US was equivocal and MRI was definitive for neuroblastoma, demonstrating heterogeneous, intermediate-signal solid masses and liver metastases. In the two cases of adrenal hemorrhage US was equivocal and MRI was definitive with signal characteristics of hemorrhage. In 2/4 neuroblastomas, Doppler US demonstrated a systemic artery suggesting extralobar sequestration; however MRI signal characteristics correctly diagnosed neuroblastoma. All cases of extralobar sequestration were correctly diagnosed by US and MRI. US and MRI both accurately detect suprarenal masses. MRI complements US in equivocal diagnoses and detects additional findings such as liver metastases in neuroblastoma. (orig.)

HIVThe influence of HIV status on prenatal genetic diagnosis choices

African Journals Online (AJOL)

HIVThe influence of HIV status on prenatal genetic diagnosis choices. JS Bee, M Glass, JGR Kromberg. Abstract. Background. At-risk women of advanced maternal age (AMA) can choose to have second-trimester invasive testing for a prenatal genetic diagnosis on the fetus. Being HIV-positive can complicate the ...

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

Science.gov (United States)

Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

2016-05-01

Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.

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Menezes, Gláucia Aparecida; Araujo Júnior, Edward; Lopes, Jorge; Belmonte, Simone; Tonni, Gabriele; Werner, Heron

2016-08-01

Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team. © 2016 Japan Society of Obstetrics and Gynecology.

Estimation of prenatal aorta intima-media thickness from ultrasound examination

International Nuclear Information System (INIS)

Veronese, E; Tarroni, G; Grisan, E; Visentin, S; Cosmi, E; Linguraru, M G

2014-01-01

Prenatal events such as intrauterine growth restriction and increased cardiovascular risk in later life have been shown to be associated with an increased intima-media thickness (aIMT) of the abdominal aorta in the fetus. In order to assess and manage atherosclerosis and cardiovascular disease risk in adults and children, in recent years the measurement of abdominal and carotid artery thickness has gained a growing appeal. Nevertheless, no computer aided method has been proposed for the analysis of prenatal vessels from ultrasound data, yet. To date, these measurements are being performed manually on ultrasound fetal images by skilled practitioners. The aim of the presented study is to introduce an automatic algorithm that identifies abdominal aorta and estimates its diameter and aIMT from routine third trimester ultrasonographic fetal data. The algorithm locates the aorta, then segments it and, by modeling the arterial wall longitudinal sections by means of a gaussian mixture, derives a set of measures of the aorta diameter (aDiam) and of the intima-media thickness (aIMT). After estimating the cardiac cycle, the mean diameter and the aIMT at the end-diastole phase are computed. Considering the aIMT value for each subject, the correlation between automatic and manual end-diastolic aIMT measurements is 0.91 in a range of values 0.44-1.10 mm, corresponding to both normal and pathological conditions. The automatic system yields a mean relative error of 19%, that is similar to the intra-observer variability (14%) and much lower that the inter-observer variability (42%). The correlation between manual and automatic measurements and the small error confirm the ability of the proposed system to reliably estimate aIMT values in prenatal ultrasound sequences, reducing measurement variability and suggesting that it can be used for an automatic assessment of aIMT. (paper)

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound.

Science.gov (United States)

Yang, Pei-Yin; Wu, Ching-Hua; Yeh, Guang-Perng; Hsieh, Charles Tsung-Che

2015-12-01

Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diprosopus twins are more illustrative in 3D ultrasound than in 2D ultrasound. After counseling, termination of pregnancy was chosen by the couple. Although necropsy was declined, the gross appearance and radiograph of the abortus confirmed our diagnosis. With the help of 3D ultrasound, we made an early and definitive diagnosis of conjoined twins. Copyright © 2015. Published by Elsevier B.V.

Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

Energy Technology Data Exchange (ETDEWEB)

Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

2000-03-15

The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

International Nuclear Information System (INIS)

Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee

2000-01-01

The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.

Science.gov (United States)

Takyi, Afua; Santolaya-Forgas, Joaquin

2017-06-01

Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.

Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

Science.gov (United States)

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana

2017-01-01

BACKGROUND Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient’s haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Science.gov (United States)

Chen, Chih-Ping; Su, Yi-Ning; Lin, Tzu-Hung; Chang, Tung-Yao; Su, Jun-Wei; Wang, Wayseen

2013-12-01

We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II ultrasound showed a normal amount of amniotic fluid and a singleton fetus with fetal biometry equivalent to 30 weeks except for short limbs. Fetal biometry measurements were as follows: biparietal diameter = 7.38 cm (30 weeks); head circumference = 28.14 cm (30 weeks); abdominal circumference (AC) = 24.64 cm (30 weeks); femur length (FL) = 3.97 cm ( 0.18); humerus = 3.64 cm (diagnosis of achondroplasia (ACH) was made. DNA testing for the FGFR3 gene and whole-genome array comparative genomic hybridization (aCGH) analysis were performed using cord blood DNA obtained by cordocentesis. FGFR3 mutation analysis revealed a de novo heterozygous c.833A > G, TAC > TGC transversion in exon 7 leading to a p.Tyr278Cys (Y278C) mutation in the FGFR3 protein. aCGH analysis revealed no genomic imbalance in cord blood. After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. Cytogenetic analysis of cultured placental cells revealed a karyotype of 46,XX. Prenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3. Copyright © 2013. Published by Elsevier B.V.

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

Directory of Open Access Journals (Sweden)

Luisella Saba

2009-06-01

Full Text Available

Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β- globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this  disease and of related disorders.  Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread.

As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades  earlier and less invasive approaches for prenatal diagnosis were developed . A overview of the most promising procedure will be done.

Moreover, in order to reduce the choice of   interrupting  the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD has been setting up for several diseases including thalassemias.

New trend in non-invasive prenatal diagnosis.

Science.gov (United States)

Ferrari, M; Carrera, P; Lampasona, V; Galbiati, S

2015-12-07

The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide. Copyright © 2014 Elsevier B.V. All rights reserved.

Prenatal ultrasound and postmortem histologic evaluation of tooth germs: an observational, transversal study.

Science.gov (United States)

Seabra, Mariana; Felino, António; Nogueira, Rosete; Valente, Francisco; Braga, Ana Cristina; Vaz, Paula

2015-05-12

Hypodontia is the most frequent developmental anomaly of the orofacial complex, and its detection in prenatal ultrasound may indicate the presence of congenital malformations, genetic syndromes and chromosomal abnormalities. To date, only a few studies have evaluated the histological relationship of human tooth germs identified by two-dimensional (2D) ultrasonography. In order to analyze whether two-dimensional ultrasonography of tooth germs may be successfully used for identifying genetic syndromes, prenatal ultrasound images of fetal tooth germs obtained from a Portuguese population sample were compared with histological images obtained from fetal autopsies. Observational, descriptive, transversal study. The study protocol followed the ethical principles outlined by the Helsinki Declaration and was approved by the Ethics Committee of the School of Dental Medicine, University of Porto (FMDUP, Porto, Portugal) and of the Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/EPE, Porto, Portugal) as well as by the CGC Genetics Embryofetal Pathology Laboratory. Eighty-five fetuses examined by prenatal ultrasound screening from May 2011 to August 2012 had an indication for autopsy following spontaneous fetal death or medical termination of pregnancy. Of the 85 fetuses, 37 (43.5%) were randomly selected for tooth germ evaluation by routine histopathological analysis. Fetuses who were up to 30 weeks of gestation, and whose histological pieces were not representative of all maxillary tooth germs was excluded. Twenty four fetus between the 13(th) and 30(th) weeks of gestation fulfilled the parameters to autopsy. Twenty four fetuses were submitted to histological evaluation and were determined the exact number, morphology, and mineralization of their tooth germs. All tooth germs were identifiable with ultrasonography as early as the 13(th) week of gestation. Of the fetuses autopsied, 41.7% had hypodontia (29.1% maxillary hypodontia and 20.9% mandibular hypodontia). This

FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

Directory of Open Access Journals (Sweden)

Antonio Francesco Corno

2015-02-01

Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

Directory of Open Access Journals (Sweden)

Sandra García-Herrero

2014-01-01

Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

Prenatal Sex Selection and Missing Girls in China: Evidence from the Diffusion of Diagnostic Ultrasound

Science.gov (United States)

Chen, Yuyu; Li, Hongbin; Meng, Lingsheng

2013-01-01

How much of the increase in sex ratio (male to female) at birth since the early 1980s in China is attributed to increased prenatal sex selection? This question is addressed by exploiting the differential introduction of diagnostic ultrasound in the country during the 1980s, which significantly reduced the cost of prenatal sex selection. We…

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review.

Science.gov (United States)

Sreejith, V P; Arun, V; Devarajan, Anooj P; Gopinath, Arjun; Sunil, Madhuri

2018-01-01

Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment. To analyze the psychological effects of prenatal diagnosis of CLP on the parents. PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study. Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents. Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.

Prenatal MRI in correlation with ultrasound

International Nuclear Information System (INIS)

Balev, B.; Baleva, D.; Ivanova, D.; Popova, R.

2012-01-01

Full text: Fetal MRI is an already established method in prenatal imaging, with complementary to US role. Most common considerations for fetal MRI are CNS anomalies and urogenital anomalies. Practically, the most frequent indication is ultrasonographically established ventriculomegaly. We introduce our experience in fetal MRI, presenting the distribution of pathological findings and our protocols. We have examined 33 fetuses for a 3-year period. Among these 13 cases were affected by CNS anomalies (neural tube defects, Dandy-Walker, cerebellar hypoplasia, agenesis of corpus callosum, aqueductal atresia, etc.), 11 fetuses are affected by urogenital anomalies (pieloureteral stenosis, VUR, renal agenesis, etc.), 5 with other pathology (congenital tumor, ovarian cysts, etc.) and 4 are normal fetuses. The findings in most interesting cases are reviewed; in some of them we present imaging-pathological correlation and/or follow up imaging. Main advantages of fetal MRI over US consist of acquiring objective and reproducible images, giving the opportunity of multiple expert-leveled reviews; exceptionally high detail concerning CNS-anatomy; additional confidence in excluding presence of concomitant anomalies; independence from calavarial ossification and maternal obesity. Ultrasound remains the main tool for prenatal imaging. MRI has similar sensitivity and higher specificity, thus serving as an arbitrage method and improving accuracy about outcome prognosis

Prenatal ultrasonographic findings of cloacal anomaly

Energy Technology Data Exchange (ETDEWEB)

Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2002-09-15

To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

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Esther Perez-Carbajo

2015-01-01

Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Science.gov (United States)

Li, Long; Ma, Na; Li, Xiu-Rong; Gong, Fei; DU, Juan

2016-08-01

To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Science.gov (United States)

Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika

2012-11-01

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.

Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

Science.gov (United States)

Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

2010-02-01

We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

LENUS (Irish Health Repository)

Dempsey, M A

2010-03-01

An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

Picture perfect: ‘4D’ ultrasound and the commoditisation of the private prenatal clinic

OpenAIRE

Thomas, Gareth Martin

2017-01-01

Non-medical ‘4D’ ultrasound is commercially advertised as promoting maternal ‘bonding’, providing reassurance, and tendering entertaining experiences for expectant parents. Despite the proliferation of this technology, it has not yet been subjected to sufficient social scientific attention. Drawing on an ethnography of a private prenatal clinic in the UK, I explore how 4D scans, providing detailed real-time images of a foetus, have transformed the prenatal clinic into a site of consumption. I...

Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature.

Science.gov (United States)

Papantoniou, Nikolaos; Papoutsis, Dimitrios; Daskalakis, Georgios; Chatzipapas, Ioannis; Sindos, Michael; Papaspyrou, Irini; Mesogitis, Spiridon; Antsaklis, Aris

2010-10-01

We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and post-mortem examination revealed absence of abdominal wall musculature and the distended urinary bladder in a male foetus. Prenatal diagnosis of PBS is based on ultrasound and is usually diagnosed in the second trimester. In the first trimester there are very few reports to date. Prognosis and possible treatment options are herein discussed as well as the underlying mechanisms that may explain the clinical presentation of the syndrome.

Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

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Wei-Shiu Chen

2009-09-01

Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

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Swift, Oscar; Vilar, Enric; Rahman, Belinda; Side, Lucy; Gale, Daniel P

2016-12-01

No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.

Prenatal diagnosis of Werdnig-Hoffmann disease in China

Institute of Scientific and Technical Information of China (English)

无

2003-01-01

Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

Awareness and use of prenatal diagnosis among Greek women: a national survey.

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Mavrou, A; Metaxotou, C; Trichopoulos, D

1998-04-01

The prevention of genetic diseases through prenatal diagnosis depends to a large extent on the awareness and acceptance of available methods by the public. A national survey was conducted among Greek women in order to explore their attitudes towards and their use of prenatal diagnosis in relation to their lifestyle. The survey was originally addressed to 3000 Greek women 18-65 years of age. Using as a criterion having a child 5 years old or younger, 350 women were eligible for the study. It was noted that 52 per cent of the respondents were adequately informed, while 48 per cent had either superficial knowledge of the subject or no knowledge at all. Amniocentesis was the method that most women were familiar with. The majority said that they were informed by their doctors and the media, and 13 per cent of the participants had prenatal diagnosis during a previous pregnancy. Twenty-two per cent of those who were not tested were over 35 years of age at the time of pregnancy. There was a significant positive correlation between awareness and acceptance of prenatal diagnosis, on the one hand, and the social, educational and financial profile of the women, on the other. Women aware of prenatal diagnosis adhered more closely to a healthy lifestyle and lived a family-centred life.

Ultrasound diagnosis and evaluation of fetal tumors.

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Kurjak, A; Zalud, I; Jurković, D; Alfirević, Z; Tomić, K

1989-01-01

Fetal tumors represent a rare and heterogeneous group of abnormalities. A significant proportion of them can now be diagnosed by using modern high resolution ultrasonic equipment. During 15 years there were 57 fetal tumours detected prenatally. Hygroma colli is the most frequent fetal tumor. It should be emphasized that cystic hygroma generally carries poor prognosis, and after an early diagnosis, termination of pregnancy is most logical approach. Contrary to the general opinion our own experience showed that there are cases in which prognosis could be much better as illustrated with our 4 cases. All of the treated fetuses, after surgical resection, had normal development and are now on the age of 5, 4, 3 and 2 years of life. An ovarian cyst can be suspected if a fluid-filled structure is visualized next to a fetal kidney and female external genitalia are recognizable. The ultrasound finding suggestive of an ovarian cyst is that of a pelvic cystic or complex mass in a female fetus with normal kidneys and urinary bladder and a normal gastrointestinal tract. In most cases, the normal course of fetal ovarian cyst is a spontaneous intrauterine or postnatal involution. Prenatal diagnosis improves neonatal outcome by allowing an appropriate choice of the optimal time, mode and place of delivery in order to avoid accidental and unexpected intrapartum and postnatal complications. The management of a fetus affected by an ovarian cyst depends on the size and on the echo-pattern of the cyst. It remains unclear whether in utero puncture of the cyst and evacuation of its content should be justified in cases of particularly large ovarian cyst. In our opinion intrauterine procedure can be attempted in the presence of large cyst fulfilling the fetal abdomen. We have treated actively two cases of large ovarian cysts by ultrasonically guided puncture before delivery and both fetuses underwent surgery later without complications. If properly performed puncture of the cyst seems to be

Prenatal ultrasonographic findings of cloacal anomaly

International Nuclear Information System (INIS)

Song, Mi Jin

2002-01-01

To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 ± 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

Placenta accreta spectrum: pathophysiology and evidence-based anatomy for prenatal ultrasound imaging.

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Jauniaux, Eric; Collins, Sally; Burton, Graham J

2018-01-01

gestation. This may explain why no single, or set combination of, ultrasound sign(s) was found to be specific for the depth of abnormal placentation, and accurate for the differential diagnosis between adherent and invasive placentation. Correlation of pathological and clinical findings with prenatal imaging is essential to improve screening, diagnosis, and management of placenta accreta spectrum, and standardized protocols need to be developed. Copyright © 2017 Elsevier Inc. All rights reserved.

Current maternal age recommendations for prenatal diagnosis: a reappraisal using the expected utility theory.

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Sicherman, N; Bombard, A T; Rappoport, P

1995-01-01

The expected utility theory suggests eliminating an age-specific criterion for recommending prenatal diagnosis to patients. We isolate the factors which patients and physicians need to consider intelligently in prenatal diagnosis, and show that the sole use of a threshold age as a screening device is inadequate. Such a threshold fails to consider adequately patients' attitudes regarding many of the possible outcomes of prenatal diagnosis; in particular, the birth of a chromosomally abnormal child and procedural-related miscarriages. It also precludes testing younger women and encourages testing in patients who do not necessarily require or desire it. All pregnant women should be informed about their prenatal diagnosis options, screening techniques, and diagnostic procedures, including their respective limitations, risks, and benefits.

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

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Bondioni, Maria Pia; Pazzaglia, Ugo Ernesto; Izzi, Claudia; Di Gaetano, Giuseppe; Laffranchi, Francesco; Baldi, Maurizia; Prefumo, Federico

2017-11-01

The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2). The diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013. The definitive diagnosis was established after pregnancy termination by means of skeletal standardized X-rays, histopathology and gene analysis. TD and OI-2 long bones were significantly shorter than controls. No significant differences were observed between the two dysplasias. The bowing angle was higher in OI-2; a true angulation or eventually axial displacement was present only in the latter. Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. Long bone shortening is not a sufficient and accurate sign for early sonographic differential diagnosis between TD and OI-2. Angled diaphysis, axial diaphyseal displacement and a conserved vertebral body height in the prenatal period support the diagnosis of osteogenesis imperfecta type 2, while moderately regular bowed diaphysis associated with platyspondyly that of thanatophoric dysplasia.

Prenatal Diagnosis of Iniencephaly: Clues and Pitfalls

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Sertaç Esin

2012-12-01

Full Text Available Iniencephaly is a congenital malformation consisting of occipital bone defect with enlargement of the foramen magnum, cervical dysraphism and fixed retroflection of the head due to spinal deformities. A 38-years-old woman presented to Etlik Zubeyde Hanim Maternity Hospital perinatology clinic at 18 week of gestation. Ultrasonography revealed a large occipital encephalocele and short cervicothoracic spine. Termination of pregnancy was recommended with the diagnosis of iniencephaly but the family refused it because of religious concerns. She was lost in follow-up but at 38 weeks she presented to our department with regular uterine contractions. Ultrasonography revealed extreme retroflexion of the head, a very short cervicothoracic spine, an encephalocele and marked polyhydramnios. Due to severe retroflexion of the head, a caudal sweep motion of the ultrasound probe gave an impression of a posteriorly placed bladder. Normal chin and neck relation was lacking. A cesarean section was decided due to marked flexion of the spine. A female fetus was delivered weighing 2790 g, with Apgar scores of 1 at 1 min and 1 at 5 min. Iniencephaly is a lethal abnormality which may be diagnosed prenatally with striking ultrasonographic features.

Parental response to severe or lethal prenatal diagnosis

DEFF Research Database (Denmark)

Lou, Stina; Jensen, Lotte Groth; Petersen, Olav Bjørn

2017-01-01

Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify and synt......Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify...... and synthesize the qualitative evidence regarding prospective parents’ responses to such prenatal diagnoses. Methods Following PRISMA guidelines, four databases were systematically searched and 28 studies met the inclusion criteria. Thematic analysis guided data extraction and synthesis of findings. The CERQual....... Prospective parents who continued the pregnancy wished to be acknowledged as parents, and engaged in planning to obtain a sense of meaning and control. Selective disclosure and concerns about negative responses were issues both for the parents who terminated and those who continued a pregnancy. Conclusion...

Diagnóstico pré-natal de displasia tanatofórica: papel do ultrassom fetal Prenatal diagnosis of thanatophoric dysplasia: role of the fetal ultrasound

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Paulo Ricardo G Zen

2011-09-01

diagnosis and highlighting the importance of the fetal ultrasound in the identification of fetus with this dysplasia. CASE DESCRIPTION: The patient is the second son of young parents without family history of genetic diseases. The fetal ultrasound performed with 35 weeks of gestation showed polyhydramnios, prominent forehead and disproportion between skull and trunk, with thoracic hypoplasia and shortening of long bones, suggestive of thanatophoric dysplasia. At birth, the child was small and presented: hypotonia, macrocephaly, large fontanel, middle face hypoplasia, bulging eyes, nevus flammeus in the nose and eyelids, low nasal bridge, micrognathia, short neck and thorax, and an important shortening of arms, forearms, thighs and legs. Radiographic evaluation showed a great transverse diameter of the skull, thorax with short ribs and diminished vertebral bodies, shortening and deformity of the long bones of upper and lower limbs (with curved femora and hypoplasia of the pelvis. These features confirmed the prenatal diagnosis of thanatophoric dysplasia. The patient died few days after birth due to respiratory insufficiency. COMMENTS: Fetal ultrasound is a non-invasive method capable of diagnosing several bone dysplasias, including the thanatophoric one. The intrauterine diagnosis allows the differential diagnosis of the condition as well as the genetic counseling for the family.

Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

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Ayşegül Türkyılmaz

2007-01-01

Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care

NARCIS (Netherlands)

Boormans, E. M. A.; Birnie, E.; Bilardo, C. M.; Oepkes, D.; Bonsel, G. J.; van Lith, J. M. M.

2009-01-01

Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

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Pugash, D; Lehman, A M; Langlois, S

2014-09-01

Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. Neuropathological findings of temporal lobe dysplasia are found in thanatophoric dysplasia, and temporal and occipital lobe abnormalities have been described recently in brain imaging studies of children with hypochondroplasia. We describe twins discordant for achondroplasia, in one of whom the prenatal diagnosis was based on ultrasound and fetal MRI documentation of temporal and occipital lobe abnormalities characteristic of hypochondroplasia, in addition to the finding of short long bones. Despite the intracranial findings suggestive of hypochondroplasia, achondroplasia was confirmed following postnatal clinical and genetic testing. These intracranial abnormalities have not been previously described in a fetus with achondroplasia. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

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Javier Sánchez

2012-01-01

Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

Prenatal diagnosis of conjoined twins by magnetic resonance imaging: report of two cases

International Nuclear Information System (INIS)

Souza, Alex Sandro Rolland de; Medeiros, Cynthia Coelho de; Lins, Glaucia Virginia de Queiroz; Noronha Neto, Carlos; Lima, Marcelo Marques de Souza

2006-01-01

Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome. (author)

[Recurrence of common truncus arteriosus. Prenatal diagnosis of a case report].

Science.gov (United States)

Ferry, P; Massias, C; Salzard, C; Anguill, C; Olleac, A; Quentin, M

1994-01-01

We report a case of isolated truncus arteriosis diagnosed prenatally which recurred during a subsequent pregnancy. This observation would suggest an increased risk of recurrent single trunk malformation as compared with other congenital heart diseases, in agreement with our understanding of the genetic processes involved. A prenatal screening can be achieved with a systematic examination of the fetal morphology. Prognosis is severe and prenatal diagnosis is difficult.

Ultrasound diagnosis of lower limb deep venous thrombosis.

Science.gov (United States)

Fletcher, J P; Kershaw, L Z; Barker, D S; Koutts, J; Varnava, A

1990-10-15

Venous ultrasound imaging was compared with ascending contrast venography for the diagnosis of suspected deep vein thrombosis (DVT) in the femoral, popliteal and calf vein segments of 44 limbs in 44 patients. One femoral and one calf vein segment could not be imaged (1.5% of the segments examined), but during the same period venography failed in six patients because of an inability to cannulate a swollen limb. Ultrasound imaging compared with venography as a means of diagnosing DVT showed an overall sensitivity of 95% and a specificity of 92%. The sensitivity and specificity of ultrasound imaging for the diagnosis of both femoral and popliteal vein thromboses were 100% and 97%, respectively, and for calf vein thrombosis were 85% and 83%, respectively. This study supports the recommendation that ultrasound imaging is now the investigation of choice for the diagnosis of DVT provided that the scan is performed by an experienced vascular technologist. Ultrasound imaging may also define other pathological conditions presenting in the differential diagnosis of DVT, such as superficial thrombophlebitis and Baker's cyst.

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

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Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

2016-01-01

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

Ultrasound diagnosis of rectus sheath hematoma

International Nuclear Information System (INIS)

Hwang, M. S.; Chang, J. C.; Rhee, C. B.

1984-01-01

6 cases of rectus sheath hematoma were correctly diagnosed by ultrasound. 2 cases had bilateral rectus sheath hematoma and 4 cases were unilateral. On ultrasound finding, relatively well defined oval or spindle like cystic mass situated in the area of rectus muscle on all cases. Ultrasound examination may give more definite diagnosis and extension rectus sheath hematoma and also helpful to follow up study of hematoma

Ultrasound Elastography in Breast Cancer Diagnosis

DEFF Research Database (Denmark)

Carlsen, J.; Ewertsen, C; Sletting, S

2015-01-01

Ultrasound elastography is an established method for characterization of focal lesions in the breast. Different techniques and analyses of the images may be used for the characterization. This article addresses the use of ultrasound elastography in breast cancer diagnosis. In the first part...

Prenatal diagnosis of amniotic band syndrome

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Laxmi Devi Padmanabhan

2016-01-01

Full Text Available Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

Prenatal diagnosis of beta-thalassaemia: experience in a developing country.

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Saxena, R; Jain, P K; Thomas, E; Verma, I C

1998-01-01

We present our experience with the amplification refractory mutation system (ARMS) for the prenatal diagnosis of beta-thalassaemia in 415 pregnancies of 360 women. Five mutations of the beta-thalassaemia gene common in Asian Indians accounted for 89.2 per cent and rare mutations for 7.2 per cent of all mutant chromosomes, while 3.3 per cent of chromosomes remained uncharacterized. Identical mutations were present in both parents in 43.2 per cent of cases, due to caste-based marriages in India. A confirmed diagnosis was given in 401 (98.3 per cent) cases, of which a complete diagnosis (whether the fetus was normal, a carrier, or homozygous) was possible in 391 (94.2 per cent) of the cases. In 15 couples, the mutation was identified in only one parent. In nine of these, the identified mutation was not present in the fetus, predicting normal/carrier status, while in five the identified mutation was present in the fetus, suggesting carrier/affected status. The abortion rate was 3.9 per cent. Pitfalls in diagnosis were failure of oligonucleotides to work, maternal contamination, and false paternity. The ARMS provides an inexpensive, robust and non-isotopic method for the prenatal diagnosis of beta-thalassaemia in India. Recommendations are outlined for establishing a prenatal diagnostic service in developing countries.

Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

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Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

2010-02-15

We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

[Prenatal diagnosis. Review, personal and prospective studies].

Science.gov (United States)

Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

1979-07-07

1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.

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Ono, Tetsuo; Katsura, Daisuke; Tsuji, Shunichiro; Yomo, Hiroko; Ishiko, Akiko; Inoue, Takashi; Kita, Nobuyuki; Takahashi, Kentaro; Murakami, Takashi

2011-10-01

Sirenomelia is a rare congenital syndrome that is characterized by the anomalous development of the caudal region of the body. The anomalies include bilateral renal agenesis or dysgenesis and the absence of the sacrum and other vertebral defects. Sirenomelia is also known as "mermaid syndrome," because of the one lower extremity. It is usually associated with severe oligohydramnios, and its prognosis is very poor due to pulmonary hypoplasia that is caused by severe oligohydramnios. The patient referred to our hospital at the gestational age of 27 weeks with fetal growth restriction and oligohydramnios. The estimated fetal body weight was 970 g (-4.9 S.D.). We could identify only one-side extremities, and could not identify kidneys by ultrasound examination. Because a single lower extremity and severe oligohydramnios are characteristics of the sirenomelia, we suspected sirenomelia. However, it could not be confirmed by ultrasound examination because of oligohydramnios. Therefore, we performed three-dimensional helical computed tomography (3D-CT), which is more accurate than ultrasound examinations for prenatal diagnosis of skeletal abnormalities. 3D-CT revealed an only one lower extremity. At 36 weeks and 5 days of gestation, the woman went into spontaneous labor and delivered an infant weighing 870 g. The infant has a single upper extremity and a single lower extremity. We provided supportive care for the neonate, who however died 1 hour 36 minutes after birth from severe respiratory distress. In summary, we report the correct diagnosis of sirenomelia with 3D-CT in the late second trimester.

Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

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Zielinsky Paulo

2000-01-01

Full Text Available Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases. Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Science.gov (United States)

Chandler, Natalie; Best, Sunayna; Hayward, Jane; Faravelli, Francesca; Mansour, Sahar; Kivuva, Emma; Tapon, Dagmar; Male, Alison; DeVile, Catherine; Chitty, Lyn S

2018-03-29

PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.MethodsParents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias.ResultsDefinitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty.ConclusionTrio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.30.

Prenatal diagnosis of Down syndrome: A 13-year retrospective study

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Ana Vičić

2017-12-01

Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands

NARCIS (Netherlands)

Olde Scholtenhuis, M. A. G.; Cohen-Overbeek, T. E.; Offringa, M.; Barth, P. G.; Stoutenbeek, Ph; Gooskens, R. H.; Wladimiroff, J. W.; Bilardo, C. M.

2003-01-01

Objective To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. Methods A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Science.gov (United States)

Gong, Zhuwen; Yu, Yongguo; Zhang, Qigang; Gu, Xuefan

2015-04-01

To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing. For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing. For prenatal diagnosis, genomic DNA was extracted from cultured fetal amniotic fluid cells and subjected to analysis of the same mutations. A low-frequency frameshifting mutation c.989_995del7 (p.H330LfsX2, inherited from his father) and a truncating mutation c.3971C>T (p.P1324L, inherited from his mother) have been identified in the affected child and considered to be pathogenic. The two mutations were subsequently verified by Sanger sequencing. Upon prenatal diagnosis, the fetus was found to carry two mutations. The combined next-generation sequencing and Sanger sequencing can reduce the time for diagnosis and identify subtypes of Fanconi anemia and the mutational sites, which has enabled reliable prenatal diagnosis of this disease.

Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

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Behnaz Moradi

2017-12-01

Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

Science.gov (United States)

Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

2015-01-01

Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

Prenatal color Doppler ultrasonographic diagnosis of fetal tetralogy of Fallot

International Nuclear Information System (INIS)

Tan Buqiao

2009-01-01

Objective: To investigate the sonographic findings of tetralogy of Fallot in fetuses. Methods: The data of color Doppler ultrasonography and follow-up results of 5 fetal tetralogy of Fallot were analyzed retrospectively, and their abnormal ultrasound imaging characteristic were summarized. Results: Two cases were proved tetralogy of Fallot by autopsy, and three cases were confirmed to be tetralogy of Fallot by echocardiography after birth. The image features were the main aorta situated above the ventricular septal defect, pulmonary stenosis, no obvious thickening of the right wall. Conclusion: Fetal tetralogy of Fallot have characteristic ultrasound images, prenatal color Doppler ultrasonographic can diagnoses fetal tetralogy of Fallot correctly and has important clinical value. (authors)

Prenatal Diagnosis of Sacrococcygeal Teratoma Using Two and Three-Dimensional Ultrasonography

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Livia Teresa Moreira Rios

2012-01-01

Full Text Available Sacrococcygeal teratoma accounts for half of all fetal tumors, with a prevalence of 1 : 40,000 births. It is believed to originate from pluripotent cells in Hensen's nodule. Although most are benign, they are associated with high morbidity and mortality rates because the fetus develops congestive heart failure and hydrops. Factors leading to poor prognosis include solid components in the mass, and hydrops diagnosed before the 30th week. A case of prenatal sacrococcygeal teratoma diagnosed using B-mode and color Doppler two-dimensional ultrasonography (2DUS is described, in which three-dimensional ultrasonography (3DUS enabled characterization of the extent of fetal lesions and allowed the parents to understand the pathological condition better. A 20-year-old primigravida was referred with a solid mass diagnosed in the lumbosacral spine. Examinations performed at our institution revealed pregnancy of 23 weeks and 4 days, with a female fetus presenting a bulky solid mass with cystic components and calcifications, measuring 7.7×9.1×12.2 cm, starting from the sacral region, with internal flow seen on color Doppler. A new ultrasound confirmed fetal death at 25 weeks and 4 days. Postnatal findings confirmed the diagnosis of sacrococcygeal teratoma. 3DUS can be used in cases of sacrococcygeal teratoma to assess the development of tumor during the prenatal and to allow better understanding of this anomaly by the parents.

Prenatal sonographic diagnosis of diastrophic dwarfism.

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Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

2002-02-01

A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

The Knowledge Base and Acceptability of Prenatal Diagnosis by ...

African Journals Online (AJOL)

AJRH Managing Editor

African Journal of Reproductive Health December 2014; 18(1): 127. ORIGINAL RESEARCH ... unskilled and self-employed positively influenced attitude towards prenatal diagnosis. .... exercise and volume of water intake per day, willingness ...

Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele

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Mehdi Kehila

2015-01-01

Full Text Available Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine. Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull. Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions.

Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction

Energy Technology Data Exchange (ETDEWEB)

Miyazaki, Osamu [National Centre for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Sago, Haruhiko; Watanabe, Noriyoshi; Ebina, Shunsuke [National Centre for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

2007-11-15

We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia. (orig.)

Rapid Diagnosis of Rhabdomyolysis with Point-of-Care Ultrasound.

Science.gov (United States)

Nassar, Alicia; Talbot, Richard; Grant, Ashley; Derr, Charlotte

2016-11-01

It is important to rapidly diagnosis and treat rhabdomyolysis in order to decrease morbidity and mortality. To date there are no reports in the emergency medicine literature on the use of point-of-care ultrasound in the diagnosis of rhabdomyolysis. This unique case describes how ultrasound was used in the emergency department (ED) to quickly diagnose and treat rhabdomyolysis prior to confirmation with an elevated serum creatine kinase. When coupled with a high index of suspicion, ultrasound can be one of the most portable, readily available, low cost, and minimally invasive techniques for making a rapid diagnosis of rhabdomyolysis in the ED.

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Science.gov (United States)

Mucciolo, Mafalda; Dello Russo, Claudio; D'Emidio, Laura; Mesoraca, Alvaro; Giorlandino, Claudio

2016-06-16

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

Genotyping and prenatal diagnosis of a large spinocerebellar ataxia ...

Indian Academy of Sciences (India)

2011-08-19

Aug 19, 2011 ... range of eye movements with horizontal nystagmus, dysdi- adochokinesia, and ... individuals; open symbols indicate normal individuals; grey sym- bols indicate .... prenatal diagnosis of a fetus at risk of MJD. In conclusion, we ...

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

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Antonietta Zappu

2015-12-01

Full Text Available Methylmalonic aciduria (MMA and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.To date, the early prenatal diagnosis of MMA and homocystinuria, cblC type is performed by determination of methylmalonic acid and total homocysteine (Hcy in amniotic fluid supernatant. In this paper we report a case of prenatal diagnosis, using genetic analysis, of MMA and homocystinuria, cblC type in an at risk couple. Direct sequencing analysis of the amplified products of chorionic villi biopsy extracted DNA showed normal sequence in the fetal DNA. Mutation analysis of the MMACHC gene is more cost-effective and less time-consuming than the biochemical approach. Early prenatal treatment may have an impact on the long-term complications associated with cblC disease. Future studies with the aim of determining the long-term benefits of daily parenteral OHCbl started soon after conception in at risk mothers should be considered. In this context early prenatal diagnosis could determine whether therapy needs to be continued.

Prenatal diagnosis in Islamic countries: A narrative review in 2013

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Mehrnoush Kosaryan

2014-02-01

Full Text Available To review the current situation regarding prenatal diagnosis in Islamic countries, a descriptive study (narrative review has been done based on the available data in formal international and national published documents in 2013. The sources were papers, websites and electronic books. Time limitation of searches has started 20 years ago. The main languages were English and Persian. Forty seven nations were officially referred as Islamic since more than 50% of the citizens are Muslims. The holy Qur'an and Islamic traditions (Shari'aht are the core of the civil laws, however, the legal grounds for prenatal diagnosis differ in Islamic countries. The main ground is the endangerment of a mother's life, however, severe suffering of parents (Osr va Haraj is also considered in the Islamic Republic of Iran. Some other important issues such as pregnancies as a result of rape should be discussed more in some Islamic countries. Many “hard to treat diseases” such as chromosomal disorders, major hemoglobinopathies, inborn error of metabolism, Duchene muscular dystrophy, spinal muscular dystrophy are being diagnosed early in embryonic period that medical abortion is advisable. Prenatal diagnosis is an acceptable practice in both religious and secular governments in the so-called Islamic countries

Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

Science.gov (United States)

Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

2015-01-01

Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

Science.gov (United States)

Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

1977-01-01

Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

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Francesca Romana Grati

2014-07-01

Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

Rapid Diagnosis of Rhabdomyolysis with Point-of-Care Ultrasound

Directory of Open Access Journals (Sweden)

Alicia Nassar

2016-11-01

Full Text Available It is important to rapidly diagnosis and treat rhabdomyolysis in order to decrease morbidity and mortality. To date there are no reports in the emergency medicine literature on the use of point-of-care ultrasound in the diagnosis of rhabdomyolysis. This unique case describes how ultrasound was used in the emergency department (ED to quickly diagnose and treat rhabdomyolysis prior to confirmation with an elevated serum creatine kinase. When coupled with a high index of suspicion, ultrasound can be one of the most portable, readily available, low cost, and minimally invasive techniques for making a rapid diagnosis of rhabdomyolysis in the ED.

A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

Science.gov (United States)

Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

2012-09-01

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome.

Science.gov (United States)

Reed, Amy R; Berrier, Kathryn L

2017-08-01

Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects of these factors. In order to better understand patient decision-making, we conducted expansive cognitive interviews with nine former patients who received a prenatal diagnosis of DS. Our results suggest that patients attached unique meanings to factors influencing decision-making regardless of the pregnancy outcome. Nineteen of the twenty-six factors previously studied and four novel factors (rationale for testing, information quality, pregnancy experience, and perception of parenting abilities and goals) were found to be important to decision-making. We argue that qualitative studies can help characterize the complexity of decision-making following prenatal diagnosis of DS.

Ultrasound diagnosis and evaluation of plantar heel pain.

Science.gov (United States)

Argerakis, Nicholas G; Positano, Rock G; Positano, Rock C J; Boccio, Ashley K; Adler, Ronald S; Saboeiro, Gregory R; Dines, Joshua S

2015-03-01

One of the most common causes of heel pain is plantar fasciitis; however, there are other pathologic disorders that can mimic the symptoms and clinical presentation of this disorder. The purpose of this study was to retrospectively review the prevalence of various pathologic disorders on ultrasound in patients with proximal plantar heel pain. The medical records and diagnostic ultrasound reports of patients presenting with plantar heel pain between March 1, 2006, and March 31, 2007, were reviewed retrospectively, and the prevalence of various etiologies was collected. The inclusion criteria were based on their clinical presentation of plantar fasciitis or previous diagnosis of plantar fasciitis from an unknown source. Ultrasound evaluation was then performed to confirm the clinical diagnosis. We examined 175 feet of 143 patients (62 males and 81 females; age range, 16-79 years). Plantar fibromas were present in 90 feet (51%). Plantar fasciitis was diagnosed in 128 feet (73%). Coexistent plantar fibroma and plantar fascial thickening was found in 63 feet (36%). Of the 47 feet that were negative for plantar fasciitis on ultrasound, 27 (57%) revealed the presence of plantar fibroma. Diagnostic ultrasound can effectively and safely identify the prevalence of various etiologies of heel pain. The high prevalence of plantar fibromas and plantar fascial tears cannot be determined by clinical examination alone, and, therefore, ultrasound evaluation should be performed for confirmation of diagnosis.

Prenatal Sonographic Diagnosis of Acardiac Twins

Energy Technology Data Exchange (ETDEWEB)

Kim, Jeong Ah; Song, Mi Jin [Cheil General Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2006-09-15

This study was performed to present the prenatal sonographic findings and the associated abnormalities of acardiac twins. Seven cases of acardiac twins were reviewed retrospectively. Prenatal ultrasonography was performed in all patients at a gestational age between 12 and 27 weeks (mean 17.6 weeks). Autopsy was performed in four cases. The sonographic and autopsy findings were reviewed to report the associated abnormalities of the acardiac and donor fetuses. The diagnosis of acardiac twins was made on the basis of ultrasonography (n=6) or autopsy (n=1). The associated abnormalities of the acardiac fetuses were single umbilical artery (SUA) (n=5), abdominal wall defect (n=4), club feet (n=4), scoliosis (n=1), cleft lip and palate (n=1), digital anomaly (n=1), and umbilical cord cyst (n=1). In four of the donor fetuses, sonographic abnormalities were found. Autopsy was performed in three of the four cases to reveal hydropic change (n=2), diaphragmatic hernia (n=1) and multiple structural abnormalities of interventricular septal defect, polydactyly, club feet and SUA (n=1). Intrauterine fetal death occurred in five donors and follow-up was lost in the remaining two. Meticulous sonography enables the diagnosis of acardiac twins at an early gestational age and can reveal the associated abnormalities of the donor fetus as well as the acardiac fetus

Prenatal Sonographic Diagnosis of Acardiac Twins

International Nuclear Information System (INIS)

Kim, Jeong Ah; Song, Mi Jin

2006-01-01

This study was performed to present the prenatal sonographic findings and the associated abnormalities of acardiac twins. Seven cases of acardiac twins were reviewed retrospectively. Prenatal ultrasonography was performed in all patients at a gestational age between 12 and 27 weeks (mean 17.6 weeks). Autopsy was performed in four cases. The sonographic and autopsy findings were reviewed to report the associated abnormalities of the acardiac and donor fetuses. The diagnosis of acardiac twins was made on the basis of ultrasonography (n=6) or autopsy (n=1). The associated abnormalities of the acardiac fetuses were single umbilical artery (SUA) (n=5), abdominal wall defect (n=4), club feet (n=4), scoliosis (n=1), cleft lip and palate (n=1), digital anomaly (n=1), and umbilical cord cyst (n=1). In four of the donor fetuses, sonographic abnormalities were found. Autopsy was performed in three of the four cases to reveal hydropic change (n=2), diaphragmatic hernia (n=1) and multiple structural abnormalities of interventricular septal defect, polydactyly, club feet and SUA (n=1). Intrauterine fetal death occurred in five donors and follow-up was lost in the remaining two. Meticulous sonography enables the diagnosis of acardiac twins at an early gestational age and can reveal the associated abnormalities of the donor fetus as well as the acardiac fetus

Radiological evaluation of the fetal face using three-dimensional ultrasound imaging

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Bäumler M

2012-12-01

Full Text Available Marcel Bäumler,1–3 Michèle Bigorre,1,4 Jean-Michel Faure1,51CHU Montpellier, Centre de Compétence des Fentes Faciales, Hôpital Lapeyronie, Montpellier, 2Clinique du Parc, Imagerie de la Femme, Castelnau-le-Lez, 3Cabinet de Radiologie du Trident, Lunel, 4CHU Service de Chirurgie Plastique Pédiatrique, Hôpital Lapeyronie, Montpellier, 5CHU Montpellier, Service de Gynécologie-Obstétrique, Hôpital Arnaud de Villeneuve, Montpellier, FranceAbstract: This paper reviews screening and three-dimensional diagnostic ultrasound imaging of the fetal face. The different techniques available for analyzing biometric and morphological items of the profile, eyes, ears, lips, and hard and soft palate are commented on and briefly compared with the respective bi-dimensional techniques. The available literature supports the use of three-dimensional ultrasound in difficult prenatal diagnostic conditions because of its diagnostic accuracy, enabling improved safety of perinatal care. Globally, a marked increase has been observed in the accuracy of three-dimensional ultrasound in comparison with the bi-dimensional approach. Because there is no consensus about the performance of the different three-dimensional techniques, future studies are needed in order to compare them and to find the best technique for analysis of each of the respective facial elements. Universal prenatal standards may integrate these potential new findings in the future. At this time, the existing guidelines for prenatal facial screening should not be changed.Keywords: prenatal three-dimensional ultrasound, prenatal screening, prenatal diagnosis, cleft lip and palate, fetal profile, retrognathism

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

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Mafalda Mucciolo

2016-06-01

Full Text Available Cardiofaciocutaneous syndrome (CFCS belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD, a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.

Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

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Lutgardo García-Díaz

2013-01-01

Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

Institute of Scientific and Technical Information of China (English)

WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

2005-01-01

Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

Diagnostic ultrasound in pregnancy - ethical problems

International Nuclear Information System (INIS)

Sande, H.A.

1991-01-01

Foetal diagnostics has changed prenatal checkups beyond the point of no return. The practice of offering ultrasound screening involves great responsibility. Routine ultrasound screening requires a high level of competency. Four main ethical issues are discussed; life or death, malformations, the foetus as patient, and the feotus as donor. Other issues discussed are verifying the diagnosis of death, how to inform the parents, procedures in connection with pathological findings, procedures in connection with stillbirth, and the legal rights of the foetus, as well as three recommendations focussing on the above-mentioned issues. 9 refs

From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

Science.gov (United States)

Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

Transvaginal Ultrasound for the Diagnosis of Abnormal Uterine Bleeding.

Science.gov (United States)

Wheeler, Karen C; Goldstein, Steven R

2017-03-01

Transvaginal ultrasound is the first-line imaging test for the evaluation of abnormal uterine bleeding in both premenopausal and postmenopausal women. Transvaginal ultrasound can be used to diagnose structural causes of abnormal bleeding such as polyps, adenomyosis, leiomyomas, hyperplasia, and malignancy, and can also be beneficial in making the diagnosis of ovulatory dysfunction. Traditional 2-dimensional imaging is often enhanced by the addition of 3-dimension imaging with coronal reconstruction and saline infusion sonohysterography. In this article we discuss specific ultrasound findings and technical considerations useful in the diagnosis of abnormal uterine bleeding.

Use of a portable system with ultrasound and blood tests to improve prenatal controls in rural Guatemala.

Science.gov (United States)

Crispín Milart, Patricia Hanna; Diaz Molina, César Augusto; Prieto-Egido, Ignacio; Martínez-Fernández, Andrés

2016-09-13

Maternal and neonatal mortality figures remain unacceptably high worldwide and new approaches are required to address this problem. This paper evaluates the impact on maternal and neonatal mortality of a pregnancy care package for rural areas of developing countries with portable ultrasound and blood/urine tests. An observational study was conducted, with intervention and control groups not randomly assigned. Rural areas of the districts of Senahu, Campur and Carcha, in Alta Verapaz Department (Guatemala). The control group is composed by 747 pregnant women attended by the community facilitator, which is the common practice in rural Guatemala. The intervention group is composed by 762 pregnant women attended under the innovative Healthy Pregnancy project. That project strengthens the local prenatal care program, providing local nurses training, portable ultrasound equipment and blood and urine tests. The information of each pregnancy is registered in a medical exchange tool, and is later reviewed by a gynecology specialist to ensure a correct diagnosis and improve nurses training. No maternal deaths were reported within the intervention group, versus five cases in the control group. Regarding neonatal deaths, official data revealed a 64 % reduction for neonatal mortality. A 37 % prevalence of anemia was detected. Non-urgent referral was recommended to 70 pregnancies, being fetal malpresentation the main reported cause. Impact data on maternal mortality (reduction to zero) and neonatal mortality (NMR was reduced to 36 %) are encouraging, although we are aware of the limitations of the study related to possible biasing and the small sample size. The major reduction of maternal and neonatal mortality provides promising prospects for these low-cost diagnostic procedures, which allow to provide high quality prenatal care in isolated rural communities of developing countries. This research was not registered because it is an observational study where the assignment of

Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

Science.gov (United States)

Gaille, Marie; Viot, Géraldine

2013-02-01

Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

[PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

Science.gov (United States)

Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

2016-12-07

Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun

2003-01-01

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2003-12-15

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Science.gov (United States)

Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

2013-01-01

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis. Copyright © 2012 Wiley Periodicals, Inc.

Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

Science.gov (United States)

Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

2014-11-01

To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

The Indian ultrasound paradox

OpenAIRE

Akbulut-Yuksel, Mevlude; Rosenblum, Daniel

2012-01-01

The liberalization of the Indian economy in the 1990s made prenatal ultrasound technology affordable and available to a large fraction of the population. As a result, ultrasound use amongst pregnant women rose dramatically in many parts of India. This paper provides evidence on the consequences of the expansion of prenatal ultrasound use on sex-selection. We exploit state-by-cohort variation in ultrasound use in India as a unique quasi-experiment. We find that sex-selective abortion of female...

Ultrasound in the diagnosis of palpable abdominal masses in children.

Science.gov (United States)

Annuar, Z; Sakijan, A S; Annuar, N; Kooi, G H

1990-12-01

Ultrasound examinations were done to evaluate clinically palpable abdominal masses in 125 children. The examinations were normal in 21 patients. In 15 patients, the clinically palpable masses were actually anterior abdominal wall abscesses or hematomas. Final diagnosis was available in 87 of 89 patients with intraabdominal masses detected on ultrasound. The majority (71%) were retroperitoneal masses where two-thirds were of renal origin. Ultrasound diagnosis was correct in 68 patients (78%). All cases of hydronephrosis were correctly diagnosed based on characteristic ultrasound appearances. Correct diagnoses of all cases of adrenal hematoma, psoas abscess, liver hematoma, liver abscess and one case of liver metastases were achieved with correlation of relevant clinical information.

Ultrasonographic Diagnosis of Diastematomyelia During the 14th Week of Gestation

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Kazşm Emre Karaşahin

2009-06-01

Conclusion: Prenatal diagnosis of diastematomyelia during the 14th week of pregnancy is possible using high-resolution ultrasound. To the best of our knowledge, this is the earliest case presented in the literature.

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

Science.gov (United States)

Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

2012-11-01

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

Science.gov (United States)

Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

2012-01-01

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods. PMID:22453293

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Science.gov (United States)

Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

2014-08-01

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

Prenatal diagnosis of chorionicity in twins.

LENUS (Irish Health Repository)

Hassan, T

2012-02-01

The aim of this audit was to assess the accuracy of transabdominal ultrasound scan in predicting chorionicity in twin pregnancies in our unit. The presence or absence of lambda sign, T-sign, dividing membrane thickness and number of placentae were used to determine chorionicity. We retrospectively analysed these antenatal markers in 268 sets of twins delivered over a 5 year period and compared it with the postpartum placental histology and neonatal gender. Of 268 twin deliveries, 204 (76%) had both chorionicity and placental histology to compare. 67 of 84 (80%) were correctly diagnosed antenatally as monochorionic and 137 of 151 (91%) as dichorionic. In 31 cases (15%) the ultrasound diagnosis of chorionicity didn\\'t match placental histology. Seventeen were thought to be monochorionic antenatally but were confirmed dichorionic on placental histology. Overall chorionicity was correctly diagnosed in 171\\/204 (84%) using transabdominal ultrasound scan (USS) in all trimesters. However the sensitivity and specificity of USS was much higher for dichorionic twins when carried out before 14 weeks of gestation.

Experience of prenatal consultation in Zaporizhzhia region over the 2011-2015 years

Directory of Open Access Journals (Sweden)

N. V. Avramenko

2016-08-01

Full Text Available Congenital malformations are one of the main causes of high infant mortality and disability from childhood. Medical and genetic counseling is an important integral part of prenatal diagnosis. Aim. The experience of the work of prenatal consultation at the clinic of Zaporizhzhya Regional Center of Human Reproduction for the 2011- 2015 years has been analyzed. Modern methods of prenatal diagnosis, including mass and selective testing of pregnant women on birth defects and chromosomal abnormalities by ultrasound examination and evaluation of maternal serum markers, as well as prenatal, cytogenetic diagnosis of chromosomal diseases in high-risk groups have been used for the early detection and prevention of birth of children with hereditary diseases in the Zaporizhzhia region. Methods and results. 2,528 Pregnant women with suspected congenital malformations of the fetus have been examined. To adequately assess the perinatal prognosis and develop tactics of pregnancy in the early neonatal period the diagnosis of pregnant women included consultation of geneticist, obstetrician - gynecologist, others specialists. Malformations of the fetus have been identified in 1.435 pregnant women. Conclusions. To identify chromosomal aberrations and congenital malformations in the fetus the prenatal consultation defines: the forecast for the life and health of the child, the tactics of pregnancy and birth, postnatal correction. Multiple malformations in the fetus and congenital central nervous system development occupy the first place in the structure of abortion during the observed period (2011-2015 years.

Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

Science.gov (United States)

Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

2007-01-01

In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

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Morris Fiddler

2014-09-01

Full Text Available The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed.

Ultrasound detection of placenta accreta in the first trimester of pregnancy

OpenAIRE

Fatemeh Rahimi-Sharbaf; Ashraf Jamal; Elaheh Mesdaghinia; Masoumeh Abedzadeh- Kalahroudi; Shirin Niroomanesh; Fatemeh Atoof

2014-01-01

Background: Placenta accreta is considered a life-threatening condition and the main cause of maternal mortality. Prenatal diagnosis of placenta accreta usually is made by clinical presentation, imaging studies like ultrasound and MRI in the second and third trimester. Objective: To determine accuracy of ultrasound findings for placenta accreta in the first trimester of pregnancy. Materials and Methods: In a longitudinal study 323 high risk patients for placenta accreta were assessed. The eli...

Transcranial Ultrasound in the Diagnosis of Parkinson’s Disease

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Aniley Martínez González

2014-10-01

Full Text Available Parkinson’s disease is the second most common neurodegenerative disorder and, since it is associated with aging, the probability of developing this disease increases with age. The diagnosis of idiopathic Parkinson’s disease is based on clinical criteria; however, its differentiation from other forms of Parkinsonism can be difficult, especially in early stages of the disease. Transcranial ultrasound has become a tool for the diagnosis of this disorder, being very useful for its early diagnosis. Ultrasonographic findings characteristic of this disease include increased echogenicity of the substantia nigra in the midbrain measured through the temporal bone window. This paper discusses the usefulness of transcranial ultrasound for early diagnosis of patients with Parkinson's disease.

Clinical application of fluorescence in situ hybridization for prenatal diagnosis

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Shu-fang JIANG

2012-07-01

Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization（FISH）, and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

Ultrasound diagnosis of fibroadenoma - is biopsy always necessary?

Energy Technology Data Exchange (ETDEWEB)

Smith, G.E.C. [Bradford Royal Infirmary, Bradford, West Yorkshire (United Kingdom)], E-mail: gemmaecsmith@hotmail.com; Burrows, P. [Bradford Royal Infirmary, Bradford, West Yorkshire (United Kingdom)

2008-05-15

Aim: To review the ultrasound characteristics of fibroadenoma and the necessity to biopsy all fibroadenomas in the under 25 years age group. Materials and methods: The details of all patients under 25 years of age who attended a large district general hospital in the UK between 1995 and 2005 with a clinical diagnosis of fibroadenoma and subsequently, underwent a breast biopsy were obtained. The report of the targeted ultrasound for these patients was reviewed and this was correlated with the histopathology report (n = 447). If there was a significant discrepancy between the ultrasound and the pathology report, the ultrasound images were reviewed. Results: Out of 447 patients 357 had an ultrasound diagnosis of fibroadenoma. This was histologically proven in 281 (78.8%) cases. In 75 (21.5%) of these patients the final histology was either another benign pathology or normal. One patient (0.3%) had an invasive carcinoma. Conclusion: The majority of patients in the 25 years and under age group have benign breast pathology, most commonly fibroadenoma. Modern ultrasound is a reliable technique to diagnose fibroadenoma in the hands of experienced breast radiologists. Therefore, in this age group, it is proposed that a palpable lump that has the ultrasound characteristics entirely consistent with a fibroadenoma need not be biopsied unless there is overriding clinical concern. The patients should be reassured, discharged, and advised to return for further evaluation only if they detect a change in the palpable abnormality.

Prenatal diagnosis of conjoined twins by magnetic resonance imaging: report of two cases; Diagnostico pre-natal de gemeos unidos com uso da ressonancia nuclear magnetica: relato de dois casos

Energy Technology Data Exchange (ETDEWEB)

Souza, Alex Sandro Rolland de; Medeiros, Cynthia Coelho de; Lins, Glaucia Virginia de Queiroz [Instituto Materno Infantil Professor Fernando Figueira (IMIP), Recife, PE (Brazil); Noronha Neto, Carlos [Centro Integrado de Saude Amaury de Medeiros (CISAM), Recife, PE (Brazil); Lima, Marcelo Marques de Souza [Universidade Federal de Sao Paulo (UNIFESP/EPM), Sao Paulo, SP (Brazil)]. E-mail: alexrolland@uol.com.br

2006-07-15

Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome. (author)

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Science.gov (United States)

Orhant, Lucie; Anselem, Olivia; Fradin, Mélanie; Becker, Pierre Hadrien; Beugnet, Caroline; Deburgrave, Nathalie; Tafuri, Gilles; Letourneur, Franck; Goffinet, François; Allach El Khattabi, Laïla; Leturcq, France; Bienvenu, Thierry; Tsatsaris, Vassilis; Nectoux, Juliette

2016-05-01

Achondroplasia is generally detected by abnormal prenatal ultrasound findings in the third trimester of pregnancy and then confirmed by molecular genetic testing of fetal genomic DNA obtained by aspiration of amniotic fluid. This invasive procedure presents a small but significant risk for both the fetus and mother. Therefore, non-invasive procedures using cell-free fetal DNA in maternal plasma have been developed for the detection of the fetal achondroplasia mutations. To determine whether the fetus carries the de novo mis-sense genetic mutation at nucleotide 1138 in FGFR3 gene involved in >99% of achondroplasia cases, we developed two independent methods: digital-droplet PCR combined with minisequencing, which are very sensitive methods allowing detection of rare alleles. We collected 26 plasmatic samples from women carrying fetus at risk of achondroplasia and diagnosed to date a total of five affected fetuses in maternal blood. The sensitivity and specificity of our test are respectively 100% [95% confidence interval, 56.6-100%] and 100% [95% confidence interval, 84.5-100%]. This novel, original strategy for non-invasive prenatal diagnosis of achondroplasia is suitable for implementation in routine clinical testing and allows considering extending the applications of these technologies in non-invasive prenatal diagnosis of many other monogenic diseases. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

Directory of Open Access Journals (Sweden)

Halliday Jane L

2006-09-01

Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

NARCIS (Netherlands)

M.G.F. van Lier (Margot); S.E. Korsse (Susanne); E.M.H. Mathus-Vliegen (Elisabeth); E.J. Kuipers (Ernst); A.M.W. van den Ouweland (Ans); K. Vanheusden (Kathleen); M.E. van Leerdam (Monique); A. Wagner (Anja)

2012-01-01

textabstractPeutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

NARCIS (Netherlands)

van Lier, Margot G. F.; Korsse, Susanne E.; Mathus-Vliegen, Elisabeth M. H.; Kuipers, Ernst J.; van den Ouweland, Ans M. W.; Vanheusden, Kathleen; van Leerdam, Monique E.; Wagner, Anja

2012-01-01

Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy

Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

International Nuclear Information System (INIS)

Garel, Catherine; Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert; Cormier-Daire, Valerie

2014-01-01

Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

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Garel, Catherine [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France); Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Cormier-Daire, Valerie [Paris Descartes University, Sorbonne Paris Cite, Necker-Enfants-Malades Hospital, Department of Genetics, Paris (France)

2014-03-15

Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

Prenatal Diagnosis of Dextrotransposition of the Great Arteries

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Jeng-Hsiu Hung

2008-10-01

Full Text Available Dextrotransposition of the great arteries (DTGA is a common cardiac cause of cyanosis in newborn infants that can cause acidosis and death within a short period of time unless there is a large atrial-level shunt or a patent ductus arteriosus. Here, we report a case of prenatal diagnosis of DTGA at 24+1 gestational weeks. In a tilted 4-chamber view, the pulmonary trunk branched to the left and the right pulmonary, with its root connected to the left ventricle outflow tract. In the short-axis view, the pulmonary trunk was shown to be parallel with the ascending aortic root. Cesarean section was performed due to the nonreassuring fetal status at 38+5 gestational weeks. The male neonate appeared to have mild cyanotic symptoms and weighed 3,108 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neonatal echocardiography was performed immediately after birth and the findings confirmed DTGA associated with atrial septal defect secundum. Postnatally, angiography confirmed the echocardiographic diagnosis of DTGA with a large atrial septal defect secundum and a large patent ductus arteriosus. Jatene arterial switch operation and atrial septal defect closure with Gore-Tex patch were performed. The neonate withstood the operation well and was discharged 27 days after birth weighing 2,950 g and in a stable condition. Prenatal diagnosis of DTGA can greatly aid to prepare the patient's family and the surgeon and significantly improve the outcome of complex heart disease in the neonatal period.

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

NARCIS (Netherlands)

Chen, E.Z.; Chiu, R.W.; Sun, H; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

2011-01-01

Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due

Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

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Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

1997-09-01

The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

Using nuclear medicine technique in thyroid cancer diagnosis with comparison to ultrasound

International Nuclear Information System (INIS)

Chau, T.G.

2007-01-01

Full text: We used the following tests- thyroid uptake with I-131, Thyroid imaging with I-131 and Thyroid ultrasound and lymph node metastasis ultrasound. The results are as follows: 1.Thyroid uptake with I-131: This test was for the evaluation of normal thyroid tissue and function of thyroid cancer: The mean of uptake were: 12,7% at 2h and 28,53 % at 24 h after addition I-131. There was no relation to I-131 uptake with tumor size. (2) Thyroid imaging with I131: Diagnosis sensitivity was 98,1%. The cold nodules on scintigram were 92,5%. The warm nodules were 16,8%. And there were no hot nodules. (3) Thyroid ultrasound and lymph node metastasis ultrasound. Diagnosis sensitivity was 98,3%. Diagnosis sensitivity of lymph node metastasis is 94,1%, accuracy 96,6%. Nuclear medicine technique contributed very much to the diagnosis of thyroid cancer and other cancer diseases. We are using SPECT and other nuclear medicine technique in oncology diagnosis and follow-up therapy. (author)

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

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Morin, G; Gekas, J; Naepels, P; Gondry, J; Devauchelle, B; Testelin, S; Sevestre, H; Thépôt, F; Mathieu, M

2001-10-01

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright 2001 John Wiley & Sons, Ltd.

[Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

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Cuillier, F; Testud, R; Samperiz, S; Fossati, P

2002-11-01

Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

Prenatal diagnosis of left pulmonary artery-to-pulmonary vein fistula and its successful surgical repair in a neonate.

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Ostras, Oleksii; Kurkevych, Andrii; Bohuta, Lyubomyr; Yalynska, Tetyana; Raad, Tammo; Lewin, Mark; Yemets, Illya

2015-04-01

Pulmonary arteriovenous fistula is a rare disease. To the best of our knowledge, prenatal diagnosis of a fistula between the left pulmonary artery and the left pulmonary vein has not been described in the medical literature. We report a case of the prenatal diagnosis of a left pulmonary artery-to-pulmonary vein fistula, followed by successful neonatal surgical repair.

High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand.

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Charoenkwan, Pimlak; Sirichotiyakul, Supatra; Phusua, Arunee; Suanta, Sudjai; Fanhchaksai, Kanda; Sae-Tung, Rattika; Sanguansermsri, Torpong

2017-12-01

High-resolution melting (HRM) analysis is a rapid mutation analysis which assesses the pattern of reduction of fluorescence signal after subjecting the amplified PCR product with saturated fluorescence dye to an increasing temperature. We used HRM analysis for prenatal diagnosis of beta-thalassemia disease in northern Thailand. Five PCR-HRM protocols were used to detect point mutations in five different segments of the beta-globin gene, and one protocol to detect the 3.4 kb beta-globin deletion. We sought to characterize the mutations in carriers and to enable prenatal diagnosis in 126 couples at risk of having a fetus with beta-thalassemia disease. The protocols identified 18 common mutations causing beta-thalassemia, including the rare codon 132 (A-T) mutation. Each mutation showed a specific HRM pattern and all results were in concordance with those from direct DNA sequencing or gap-PCR methods. In cases of beta-thalassemia disease resulting from homozygosity for a mutation or compound heterozygosity for two mutations on the same amplified segment, the HRM patterns were different to those of a single mutation and were specific for each combination. HRM analysis is a simple and useful method for mutation identification in beta-thalassemia carriers and prenatal diagnosis of beta-thalassemia in northern Thailand.

Two- and three-dimensional prenatal sonographic diagnosis of prune-belly syndrome.

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Chen, Lizhu; Cai, Ailu; Wang, Xiaoguang; Wang, Bing; Li, Jingyu

2010-06-01

We report the prenatal diagnosis of 6 cases of Prune-belly syndrome in the 2(nd) trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2-dimensional sonographic examination. We discuss the role of Doppler imaging and 3-dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

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Rachid, Myriam; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

2017-04-01

Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.

Prenatal Diagnosis of a Segmental Small Bowel Volvulus with Threatened Premature Labor

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Barbara Monard

2017-01-01

Full Text Available Fetal primary small bowel volvulus is extremely rare but represents a serious life-threatening condition needing emergency neonatal surgical management to avoid severe digestive consequences. We report a case of primary small bowel volvulus with meconium peritonitis prenatally diagnosed at 27 weeks and 4 days of gestation during threatened premature labor with reduced fetal movements. Ultrasound showed a small bowel mildly dilated with thickened and hyperechogenic intestinal wall, with a typical whirlpool configuration. Normal fetal development allowed continuation of pregnancy with ultrasound follow-up. Induction of labor was decided at 37 weeks and 2 days of gestation because of a significant aggravation of intestinal dilatation appearing more extensive with peritoneal calcifications leading to the suspicion of meconium peritonitis, associated with reduced fetal movements and reduced fetal heart rate variability, for neonatal surgical management with a good outcome.

Prenatal Diagnosis of a Segmental Small Bowel Volvulus with Threatened Premature Labor

Science.gov (United States)

Mottet, Nicolas; Ramanah, Rajeev; Riethmuller, Didier

2017-01-01

Fetal primary small bowel volvulus is extremely rare but represents a serious life-threatening condition needing emergency neonatal surgical management to avoid severe digestive consequences. We report a case of primary small bowel volvulus with meconium peritonitis prenatally diagnosed at 27 weeks and 4 days of gestation during threatened premature labor with reduced fetal movements. Ultrasound showed a small bowel mildly dilated with thickened and hyperechogenic intestinal wall, with a typical whirlpool configuration. Normal fetal development allowed continuation of pregnancy with ultrasound follow-up. Induction of labor was decided at 37 weeks and 2 days of gestation because of a significant aggravation of intestinal dilatation appearing more extensive with peritoneal calcifications leading to the suspicion of meconium peritonitis, associated with reduced fetal movements and reduced fetal heart rate variability, for neonatal surgical management with a good outcome. PMID:29230337

Bedside Ultrasound for the Diagnosis of Peritonsillar Abscess

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Harshal Bhakta

2017-09-01

Full Text Available History of present illness: A 34-year-old male presented to the Emergency Department with fever, sore throat, and difficulty swallowing. On exam, the patient had trismus, a deviated uvula, and swelling of his left peritonsillar space. An intraoral point of care ultrasound (POCUS was performed, which revealed a fluid collection in the patient’s left peritonsillar space. The patient was diagnosed with a peritonsillar abscess (PTA and needle aspiration was performed under direct ultrasound guidance. The patient tolerated the procedure well and was sent home with a course of antibiotics. Significant findings: The first video is an intraoral ultrasound using the high frequency endocavitary probe demonstrating an anechoic fluid collection adjacent to the patient’s enlarged left tonsil. The second video shows real-time ultrasound-guided successful drainage of the PTA. Discussion: Peritonsillar abscesses are the most common deep space infection of the head and neck1, most commonly affecting children and young adults.2 The ability of physicians to accurately differentiate PTA from peritonsillar cellulitis (PTC by physical exam alone is limited. Traditionally, PTA has been treated using landmark-based needle aspiration.3 If unsuccessful, computed tomography (CT imaging and otolaryngology (ENT consultation is usually required.3 Although diagnosis of PTA using intraoral ultrasound has a sensitivity and specificity of between 89%-95% and 79%-100% respectively, it is still underutilized in comparison to these traditional methods.4 Studies have shown the use of ultrasound for diagnosis and treatment of PTA leads to significantly better outcomes and higher success rates of drainage (when compared to landmark-based needle aspiration, less need for CT imaging, and less need for ENT consultation.3 Utilizing intraoral point-of-care ultrasound is an efficient, safe, and cost-effective way of diagnosing and treating PTA.

[Ultrasound diagnosis of aneurysm of the vein of Galen in children].

Science.gov (United States)

Gazikalović, S; Kosutić, J; Komar, P; Vukomanović, V; Mogić, M

2001-01-01

Aneurysm of the vein of Galen is rare and complex vascular disorder that develops during embriogenesis and provokes significant haemodynamic changes. Boys are more frequently involved. During the foetal period Ballantyne syndrome may develop, and postnatal clinical presentation vary with ages. Serious haemodynamic changes are followed by congestive heart failure and, if not treated, with lethal exitus. Fast and correct diagnosis is very important. Ultrasound examination of central nervous system supported with Duplex-Doppler and Colour-Doppler examination of the head and heart enables the diagnosis. This text comments ultrasound presentation of the malformation and ultrasound diagnostic possibilities.

Early prenatal diagnosis of ischiopagus conjoined twins

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Ahmet Mete Ergenoğlu

2014-03-01

Full Text Available Introduction: Conjoined twins are very rare and the incidence of them vary about 1/50,000 and 1/100,000. They are named according to the joint parts. Embryos are conjoined at the level of ischium in ischiopagus. A case of ischiopagus will be presented in this article. Case: A twenty-seven year old women who is 9-10 weeks pregnant with a history of 1 abortus applied to the Ege University Department of Obstetrics and Gynecology for routine follow-up. Ultrasonography revealed a twin pregnancy but the embryos were attached at the pelvic region. 3D Doppler sonography confirmed the diagnosis of ischiopagus tetrapus. The patient's decision of termination of pregnancy is concluded at Perinatology Council of the clinic. Conclusion: Ischiopagus conjoined twins are very rare. Early prenatal diagnosis will prevent the maternal complications during the termination of the pregnancy.

Ultrasound imaging in the diagnosis of periapical lesions

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Christo Naveen Prince

2012-01-01

Full Text Available Background and Objectives: To assess the diagnostic capability of real-time ultrasound imaging, together with the application of color power Doppler in the identification and differential diagnosis of the periapical lesions. Materials and Methods: Fifteen patients with periapical lesions of pulpal origin, diagnosed with clinical and conventional radiographic examination, were examined further using ultrasonography. The results from the biopsies of the lesions were compared and statistically analyzed. Results: The differential diagnosis between periapical granulomas and cystic lesions, which were based on the ultrasonographic findings, were confirmed by the results of the histopathologic examination in 13 (86.7% of 15 cases, one being granuloma and 14 being cystic lesion. Interpretation and Conclusion: Ultrasound real-time imaging is a technique that may help make a differential diagnosis between cysts and granulomas by revealing the nature of the content of a bony lesion. This technique may have further applications in the study of other lesions of the jaws.

Fetal adrenal gland enlargement - prenatal and postnatal management.

Science.gov (United States)

Lackova, Eliska; Cunderlik, Anton; Ticha, Lubica; Gabor, Maria

2017-11-01

The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded. We have analyzed 6 years of medical records of all cases from the western Slovakia region of suprarenal gland enlargement encountered to 1st Pediatric Department, Children's University Hospital Bratislava Republic in the time period of January 2010 to Janurary 2016. The diagnosis of suprarenal gland enlargement was set by ultrasound examination performed on the 4th postnatal day as an overall screening test. Newborns with positive laboratory screening on congenital adrenal hyperplasia (CAH) were excluded from our study. We analyzed the origin of surarenal gland enlargement, gestation week on the due date, the birth weight and other comorbidities and genetic pathologies in newborns with the enlarged suprarenal glands. There were 6 newborns followed up due to suprarenal gland enlargement. All of the patients had diagnosed the adrenal haemorrhage. Adrenal lesions like adrenal cysts or neuroblastomas were not confirmed. All of the adrenal enlargements were benign with no need of other medical or surgical intervention. None of the newborn patients had other genetic abnormalities, mineral or hormonal imbalances, problems with arterial pressure or haemodynamic instability. All of the patients underwent at least 5 prenatal ultrasound tests and at least 2 postnatal ultrasound measurements. The avarage birth weight was 3030 grams (2700 grams - to 3750 grams). The avarage birth lenght was 50 cm (47 centimeter to 53 cm).The average gestation week (gw) on due date

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

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Marialuigia Spinelli

2015-01-01

Full Text Available Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS, which was confirmed by molecular testing of MID1 gene (Xp22.3 at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Science.gov (United States)

Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

2014-12-01

To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

Ultrasound in differential diagnosis of periapical radiolucencies: A radiohistopathological study

Science.gov (United States)

Khambete, Neha; Kumar, Rahul

2015-01-01

Objectives: To evaluate the efficacy of ultrasound in differential diagnosis of periapical radiolucencies. Materials and Methods: Ten patients aged between 19 years and 40 years with periapical lesions associated with anterior maxillary or mandibular teeth were selected and consented for the study. Pre-operative periapical radiographs were obtained. Measurements and provisional diagnoses of the apical areas were made by two specialist observers on two separate occasions. Preoperative ultrasound examinations with Doppler flowmetry were then performed and the images assessed by two specialist observers for the size, contents, vascular supply and a provisional diagnosis made as to whether the lesion was a cyst or granuloma. Endodontic surgery was performed including curettage of the apical tissues to enable histopathological investigation, which provided the gold standard diagnosis. All measurements and findings were compared and statistically analyzed. Results: Total 10 lesions were identified in 10 patients. On periapical radiographs, lesions were readily identified but observers were unable to differentiate granuloma from cyst using either modality. Where sufficient buccal cortical bone had been resorbed, ultrasound imaging was simple but underestimated the size of the lesions compared with periapical radiographs. In all cases, the ultrasound diagnosis agreed with the histopathological gold standard. Conclusion: Ultrasonography (USG) can provide accurate information about the nature of intraosseous lesions of the jaws before any surgical procedure. It is proposed that USG with Doppler flowmetry can provide an additional diagnostic tool without invasive surgery, where treatment option is nonsurgical. PMID:25657525

Prenatal diagnosis in Sweden: organisation and current issues.

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Bui, T H; Kristoffersson, U

1997-01-01

Invasive prenatal diagnosis was introduced in Sweden in the early 1970s and is an integral part of the public health care system. Funding is provided by taxation; the patient only pays a consultation fee. Genetic analyses on a broad range of cytogenetic and molecular disorders are performed at the 6 university-affiliated hospitals and in 1 county hospital. About 6% of all newborns have been cytogenetically screened during pregnancy, and about 90% of the analyses are performed after amniocentesis. The main indication is chromosome analysis because of advanced maternal age.

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

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Constantinos Pangalos

2016-04-01

Full Text Available Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability to provide a precise diagnosis precludes proper reproductive and fetal risk assessment. We report the development and first applications of an expanded exome sequencing-based test, coupled to a bioinformatics-driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings. Methods. We applied the testing strategy to14 euploid fetuses, from 11 on-going pregnancies and three products of abortion, all with various abnormalities or malformations detected through prenatal ultrasound examination. Whole exome sequencing (WES was followed by variant prioritization, utilizing a custom analysis pipeline (Fetalis algorithm, targeting 758 genes associated with genetic disorders which may present with abnormal fetal ultrasound findings. Results. A definitive or highly-likely diagnosis was made in 6 of 14 cases (43%, of which 3 were abortuses (Ellis-van Creveld syndrome, Ehlers-Danlos syndrome and Nemaline myopathy 2 and 3 involved on-going pregnancies (Citrullinemia, Noonan syndrome, PROKR2-related Kallmann syndrome. In the remaining eight on-going pregnancy cases (57%, a ZIC1 variant of unknown clinical significance was detected in one case, while in seven cases testing did not reveal any pathogenic variant(s. Pregnancies were followed-up to birth, resulting in one neonate harboring the PROKR2 mutation, presenting with isolated minor structural cardiac abnormalities, and in seven apparently healthy neonates. Discussion. The expanded targeted exome sequencing-based approach described herein (Fetalis, provides strong evidence suggesting a definite and beneficial increase in our diagnostic capabilities in prenatal

Incomplete dicephalous conjoined twins: prenatal US and MRI findings

International Nuclear Information System (INIS)

Salvador, Diego; Ruata, Maria I.; Ruiz Lascano, Diogenes; Travella, Claudio; Tinti, Maria E.

2002-01-01

The authors report a case of incomplete dicephali conjoined twins, with prenatal diagnostic by ultrasound scan and confirmed with nuclear magnetic resonance. In this case the fetus presented two complete heads and necks, two parallel columns up to the coccyx, one single body, two complete arms and two complete legs. Thorax and abdominal organs were not double, however the heart had more than four cavities. This abnormality appears when the zygote division happens after the day 14 from fertilization and it is unable to cause the fission, resulting in an incomplete division. This kind of conjoined twins have practically no chance of surviving, due to the large number of shared organs. The prenatal diagnosis is important to separate these cases from those with a chance of living with surgical intervention. (author)

Bedside Ultrasound for the Diagnosis of Small Bowel Obstruction

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Alexander Anshus

2017-09-01

Full Text Available History of present illness: An elderly female with no history of prior abdominal surgeries presented to the emergency department (ED with acute onset of abdominal pain and distention. Upon arrival, she began having large volume bilious emesis. While waiting for a computed tomography (CT scan of her abdomen and pelvis, a point of care ultrasound (POCUS was performed which showed evidence of a small bowel obstruction (SBO. The patient had a nasogastric tube placed that put out over two liters of bilious contents. A subsequent CT scan confirmed the diagnosis of SBO from a left inguinal hernia and the patient was admitted to the surgical service. Significant findings: The POCUS utilizing the low frequency curvilinear probe demonstrates fluid-filled, dilated bowel loops greater than 2.5cm with to-and-fro peristalsis, and thickened bowel walls greater than 3mm, concerning for SBO. Discussion: Gastrointestinal obstruction is a common diagnosis in the ED, accounting for approximately 15% of all ED visits for acute abdominal pain.1 SBO accounts for approximately 80% of all obstructions.2 In the diagnosis of SBO, studies show that abdominal x-rays have a sensitivity of 66-77% and specificity of 50-57%,3 CT scans have a sensitivity of 92% and specificity of 93%,4 and ultrasound has a sensitivity of 88% and specificity of 96%.5 While CT scan remains a widely accepted modality for diagnosing SBO, ultrasound is more cost effective, well tolerated, does not involve ionizing radiation, and can be done in a timely manner at the patient’s bedside. Ultrasound can also identify transition points as well as distinguish between functional and mechanical obstruction.6 In addition to SBO, ultrasound can be used to diagnose external hernias, intussusception, tumors, superior mesenteric artery (SMA syndrome, foreign bodies, bezoars, and ascariasis.7

Prenatal Diagnosis of Single-Gene Defects%单基因病的产前诊断研究进展

Institute of Scientific and Technical Information of China (English)

严恺; 金帆

2013-01-01

单基因病是导致新生儿出生缺陷的主要原因之一，大多数单基因病患者预后不佳。对于有单基因病患儿出生史的家系，在先证者致病基因及突变类型明确的基础上，可通过产前诊断防止患儿的出生。目前，单基因病的产前诊断可分为植入前遗传学诊断（PGD）和妊娠期产前诊断。传统的产前诊断通过有创手术获取胎儿源性标本，准确性高，但具有一定程度的流产风险。PGD和无创产前诊断（NIPD）作为新的产前诊断方式，在一定程度上可作为传统方式的补充。综述单基因病产前诊断技术的研究进展及遗传咨询的重要意义，为临床实践产前诊断的方案制定提供一定的思路。%Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice.

Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

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Garnier, Arnaud; Dreux, Sophie; Vargas-Poussou, Rosa; Oury, Jean-François; Benachi, Alexandra; Deschênes, Georges; Muller, Françoise

2010-03-01

Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndrome-affected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth.

Utility of ultrasound in the early diagnosis of childhood neutropenic enterocolitis

International Nuclear Information System (INIS)

Muro, D.; Sanguesa, C.; Bermudez, M.; Verdeguer, A.

1999-01-01

To determine the utility of ultrasound in the diagnosis of neutropenic enterocolitis (NEC) in children with cancer or AIDS, and to establish the differential diagnosis with respect to more common causes of acute abdomen. We studied eight patients diagnosed as having NEC over a ten-year period, gathering the clinical data and imaging studied for each. Seven of the children were cancer patients and the remaining child had AIDS. The imaging methods used were plain radiography, B-mode ultrasound and color Doppler ultrasound: in addition, one patient underwent a barium enema. All eight patients presented abdominal pain, predominantly in right iliac fossa, and fever; the neutrophil count was under 100/mm''3. The most common plain abdominal X-ray image was the absence of air in right iliac fossa and dilation of the small bowel loops. One child presented submucosal and subserosal ectopic air colon and cecum, air in the intrahepatic portal system and in peritoneum. Abdominal ultrasound revealed thickening of the cecal mucosa in every case, and color Doppler ultrasound disclosed increased vascularization of the intestinal wall. Six children received medical treatment and two underwent surgery. Three patients died, one a few hours after the surgical procedure and the other two a few days after onset of NEC and initiation of medical treatment. Abdominal ultrasound is the best imaging technique for early diagnosis of NEC and assessment of the response to medical treatment, Moreover, it can be performed at bedside, making it unnecessary to move the patient from his room. (Author) 26 refs

Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

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Chih-Ping Chen

2010-03-01

Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

3-D Ultrasound Vascularity Assessment for Breast Cancer Diagnosis

National Research Council Canada - National Science Library

Carson, Paul

1997-01-01

This project is to improve the diagnosis and management of patients with breast cancer through development and evaluation of 3D ultrasound imaging and quantification techniques emphasizing vascularity...

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.

Science.gov (United States)

Gilboa, Yinon; Perlman, Sharon; Pode-Shakked, Naomi; Pode-Shakked, Ben; Shrim, Alon; Azaria-Lahav, Einat; Dekel, Benjamin; Yonath, Hagith; Berkenstadt, Michal; Achiron, Reuven

2016-11-01

The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity. We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

[Prenatal diagnosis and treatment of fetal choroid plexus cysts].

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Liang, Mei-Ying; Wang, Hong-Bin; Huang, Xin; Wei, Yan-Qiu

2007-09-01

To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts (CPC). From May 2004 to March 2007, 55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied. Each case was studied regarding fetal chromosome karyotype, disappearance weeks of the cyst, the clinical outcome and follow-up results respectively. The cases were diagnosed during 16 - 25 gestational weeks. The diameters of the cysts varied from 0.2 cm to 2.4 cm. There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC. The cysts of all cases who continued pregnancy disappeared before 28 weeks. Fetal chromosome karyotypes were obtained in 50 cases. Among them, two cases were 18-trisomy, and one case was 21-trisomy. Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester. One neonate was diagnosed as ventricular septal defect among 50 cases of follow up. Among these six cases, three were from advanced-age pregnant women, five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm. (1) Fetal CPC can be diagnosed during second trimester, and the majority disappear before 28 gestational weeks. (2) High risk factors for fetal abnormal chromosome karyotype may be: advanced-age pregnant women, abnormal structure of fetus, and the diameter of bilateral or unilateral cyst more than 1.0 cm. It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.

[Predictive factors of the outcomes of prenatal hydronephrosis.

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Bragagnini, Paolo; Estors, Blanca; Delgado, Reyes; Rihuete, Miguel Ángel; Gracia, Jesús

2016-12-01

To determine prenatal and postnatal independent predictors of poor outcome, spontaneous resolution, or the need for surgery in patients with prenatal hydronephrosis. We performed a retrospective study of patients with prenatal hydronephrosis. The renal pelvis APD was measured in the third prenatal trimester ultrasound, as well as in the first and second postnatal ultrasound. Other variables were taken into account, both prenatal and postnatal. For statistical analysis we used Student t-test, chi-square test, survival analysis, logrank test, and ROC curves. We included 218 patients with 293 renal units (RU). Of these, 147/293 (50.2%) RU were operated. 76/293 (25.9%) RU had spontaneous resolution and other 76/293 (25.9%) RU had poor outcome. As risk factors for surgery we found low birth weight (OR 3.84; 95% CI 1.24-11.84), prematurity (OR 4.17; 95% CI 1.35-12.88), duplication (OR 4.99; 95% CI 2.21-11.23) and the presence of nephrourological underlying pathology (OR 53.54; 95% CI 26.23-109.27). For the non-spontaneous resolution, we found as risk factors the alterations of amniotic fluid volume (RR 1.46; 95% CI 1.33-1.60) as well as the underlying nephrourological pathology and duplication. In the poor outcome, we found as risk factors the alterations of amniotic fluid volume (OR 4.54; 95% CI 1.31-15.62), the presence of nephrourological pathology (OR 4.81 95% CI 2.60-8.89) and RU that was operated (OR 4.23, 95% CI 2.35-7.60). The APD of the renal pelvis in all three ultrasounds were reliable for surgery prediction (area under the curve 0.65; 0.82; 0.71) or spontaneous resolution (area under the curve 0.80; 0.91; 0.80), only the first postnatal ultrasound has predictive value in the poor outcome (area under the curve 0.73). The higher sensitivity and specificity of the APD as predictor value was on the first postnatal ultrasound, 14.60 mm for surgery; 11.35 mm for spontaneous resolution and 15.50 mm for poor outcome. The higher APD in the renal pelvis in any of the

Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

Science.gov (United States)

Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

2009-11-01

Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p- in association with congenital hypospadias and foot deformity

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Ermis Hayri

2003-01-01

Full Text Available Abstract Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-. We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4(p14 karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Science.gov (United States)

Aslan, Halil; Karaca, Nilay; Basaran, Seher; Ermis, Hayri; Ceylan, Yavuz

2003-01-01

Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome. PMID:12546710

Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

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Hall, Alison; Bostanci, A; Wright, C F

2010-01-01

Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright 2010 S. Karger AG, Basel.

A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound

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Thomaz Rafael Gollop

1999-06-01

Full Text Available Fetal hydantoin syndrome (FHS is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase, vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility.A síndrome da hidantoína fetal consiste em um conjunto de disrupturas por vezes observadas em fetos expostos à fenitoína ou outros anticonvulsivos no período pré-natal. A administração de fenitoína em fase precoce da gravidez pode prejudicar o desempenho psicomotor esperado no desenvolvimento infantil. Diversos indicadores fenotípicos, em conjunto, caracterizam a síndrome, mas a presença de sinais clínicos isolados é mais comum. Há controvérsia quanto à sua etiologia. As

Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

NARCIS (Netherlands)

Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

2010-01-01

OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

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Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

2009-10-01

To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

NARCIS (Netherlands)

Garne, E

Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

Gastrosquise: Diagnóstico Pré-natal x Prognóstico Neonatal Gastroschisis: Prenatal Diagnosis x Neonatal Outcome

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Melania Maria Ramos de Amorim

2000-05-01

Full Text Available Objetivos: determinar a freqüência de diagnóstico pré-natal em recém-nascidos (RN com gastrosquise operados no Instituto Materno-Infantil de Pernambuco (IMIP e analisar suas repercussões sobre o prognóstico neonatal. Métodos: realizou-se um corte transversal retrospectivo incluindo 31 casos de gastrosquise submetidos a correção cirúrgica em nosso serviço entre 1995-1999. Calculou-se o risco de prevalência (RP de morte neonatal e seu intervalo de confiança a 95% para a presença de diagnóstico pré-natal e outras variáveis cirúrgicas e perinatais, realizando-se análise de regressão logística múltipla para determinação do risco ajustado de morte neonatal. Resultados: apenas 10 (32,3% dos 31 casos de gastrosquise tinham diagnóstico pré-natal e nasceram no IMIP. Nenhum RN com diagnóstico pré-natal foi prematuro, em contraste com 43% daqueles sem diagnóstico pré-natal (p 4 horas, cirurgia em estágios, necessidade de ventilação mecânica e infecção. Conclusões: o diagnóstico pré-natal foi infreqüente entre RN com gastrosquise e a morte neonatal foi extremamente alta em sua ausência. É necessário aumentar a freqüência de diagnóstico pré-natal e melhorar os cuidados perinatais para reduzir esta elevada mortalidade.Purpose: to determine the frequency of prenatal diagnosis in newborns with gastroschisis operated at the Instituto Materno-Infantil de Pernambuco (IMIP and to analyze its repercussions on neonatal prognosis. Patients and Methods: a cross-sectional study was carried out, including 31 cases of gastroschisis submitted to surgical correction in our service from 1995 to 1999. Prevalence risk (PR of neonatal death and its 95% confidence interval were calculated for the presence of prenatal diagnosis and other perinatal and surgical variables. Multiple logistic regression analysis was carried out to determine the adjusted risk of neonatal death. Results: only 10 of 31 cases of gastroschisis (32.3% had

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives.

Science.gov (United States)

Traeger-Synodinos, Joanne; Harteveld, Cornelis L

2017-03-01

Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of prenatal diagnosis, to minimize the incidence of new cases is recognized in many countries. Areas covered: The challenges associated with identifying carrier couples using hematology-based screening, along with DNA diagnosis and prenatal diagnosis were addressed, based on a literature search and the authors expertise. Expert commentary: The hemoglobinopathies are extremely heterogeneous at the haematological, molecular and clinical level, requiring appropriately equipped and staffed laboratories with experience to support comprehensive screening and diagnosis. However complete services with adequate infrastructure to address the associated technical challenges do not exist widely, especially in low-income countries that, coincidentally, are often those with the highest frequency of hemoglobinopathies in their population. Additionally, overcoming limited public awareness, education and absence of systematic dissemination of information also constitutes a challenge. This article aims to highlight these challenges and to evaluate potential future developments that may address at least some of them, focusing mainly on the technical challenges related to molecular diagnostics.

Prenatal diagnosis of homozygous familial hypercholesterolaemia

International Nuclear Information System (INIS)

Brown, M.S.; Kovanen, P.T.; Goldstein, J.L.; Eeckels, R.; Vandenberghe, K.; Van Den Berghe, H.; Fryns, J.P.; Cassiman, J.J.

1978-01-01

Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125 I-L.D.L. Functional consequences of L.D.L. binding to the receptor - i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification - were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life. (author)

Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

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Michail Varras

2010-07-01

Full Text Available Michail Varras1, Christodoulos Akrivis21Obstetrics and Gynecology Department, “Elena Venizelou” General Maternity Hospital, Athens; 2Obstetrics and Gynecology Department, “G Chatzikosta” General State Hospital, Ioannina, GreeceAbstract: Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks’ gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.Keywords: hemivertebra, congenital scoliosis, prenatal diagnosis, ultrasonography

The accuracy of 2D ultrasound prenatal sex determination ...

African Journals Online (AJOL)

Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. Keywords: Accuracy, gender determination, prenatal gender, prenatal sex, sex ...

Low Rate of Prenatal Diagnosis among Neonates with Critical Aortic Stenosis: Insight into the Natural History In Utero (Aortic Stenosis)

Science.gov (United States)

Freud, Lindsay R.; Moon-Grady, Anita; Escobar-Diaz, Maria C.; Gotteiner, Nina L.; Young, Luciana T.; McElhinney, Doff B.; Tworetzky, Wayne

2014-01-01

Objectives To better understand the natural history and spectrum of fetal aortic stenosis (AS), we aimed to 1) determine the prenatal diagnosis rate of neonates with critical AS and a biventricular (BV) outcome; and 2) describe the findings at fetal echocardiography in prenatally diagnosed patients. Methods A multi-center, retrospective study was performed from 2000 to 2013. Neonates with critical AS who were discharged with a BV outcome were included. The prenatal diagnosis rate was compared to that reported for hypoplastic left heart syndrome (HLHS). Fetal echocardiographic findings in prenatally diagnosed patients were reviewed. Results Only 10 of 117 neonates (8.5%) with critical AS and a BV outcome were diagnosed prenatally, a rate significantly lower than that for HLHS in the contemporary era (82%; p<0.0001). Of the 10 patients diagnosed prenatally, all developed LV dysfunction by a median gestational age of 33 weeks (range, 28–35). When present, Doppler abnormalities such as retrograde flow in the aortic arch (n=2), monophasic mitral inflow (n=2), and left to right flow across the foramen ovale (n=8) developed late in gestation (median 33 weeks). Conclusion The prenatal diagnosis rate among neonates with critical AS and a BV outcome is very low, likely due to a relatively normal 4-chamber view in mid-gestation with development of significant obstruction in the 3rd trimester. This natural history contrasts with that of severe mid-gestation AS with evolving HLHS and suggests that the timing in gestation of significant AS has an important impact on subsequent left heart growth in utero. PMID:25251721

Arrays in Postnatal and Prenatal Diagnosis : An Exploration of the Ethics of Consent

NARCIS (Netherlands)

Dondorp, Wybo; Sikkema-Raddatz, Birgit; de Die-Smulders, Christine; de Wert, Guido

The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range

Prenatal screening: current practice, new developments, ethical challenges.

Science.gov (United States)

de Jong, Antina; Maya, Idit; van Lith, Jan M M

2015-01-01

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. © 2014 John Wiley & Sons Ltd.

[Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

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Rodríguez Martín, Esteban

2012-01-01

The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

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Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

2015-07-01

Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. PCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED. NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 John Wiley & Sons, Ltd.

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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Halit Akbas

2013-01-01

Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

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Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

2013-01-01

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology

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Smarius, Bram; Loozen, Charlotte; Manten, Wendy; Bekker, Mireille; Pistorius, Lou; Breugem, Corstiaan

2017-01-01

Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams. PMID:29026689

Ultrasound introscopic image quantitative characteristics for medical diagnosis

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Novoselets, Mikhail K.; Sarkisov, Sergey S.; Gridko, Alexander N.; Tcheban, Anatoliy K.

1993-09-01

The results on computer aided extraction of quantitative characteristics (QC) of ultrasound introscopic images for medical diagnosis are presented. Thyroid gland (TG) images of Chernobil Accident sufferers are considered. It is shown that TG diseases can be associated with some values of selected QCs of random echo distribution in the image. The possibility of these QCs usage for TG diseases recognition in accordance with calculated values is analyzed. The role of speckle noise elimination in the solution of the problem on TG diagnosis is considered too.

Prenatal screening for fetal aneuploidy in singleton pregnancies.

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Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

2011-07-01

To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document reviews the options available for non-invasive screening and makes recommendations for Canadian patients and health care workers. To offer non-invasive screening for fetal aneuploidy (trisomy 13, 18, 21) to all pregnant women. Invasive prenatal diagnosis would be offered to women who screen above a set risk cut-off level on non-invasive screening or to pregnant women whose personal, obstetrical, or family history places them at increased risk. Currently available non-invasive screening options include maternal age combined with one of the following: (1) first trimester screening (nuchal translucency, maternal age, and maternal serum biochemical markers), (2) second trimester serum screening (maternal age and maternal serum biochemical markers), or (3) 2-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (integrated prenatal screen, serum integrated prenatal screening, contingent, and sequential). These options are reviewed, and recommendations are made. Studies published between 1982 and 2009 were retrieved through searches of PubMed or Medline and CINAHL and the Cochrane Library, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

DEFF Research Database (Denmark)

Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

2004-01-01

OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

Parental decision-making after ultrasound diagnosis of a serious foetal abnormality.

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Bijma, Hilmar H; Wildschut, Hajo I J; van der Heide, Agnes; Passchier, Jan; Wladimiroff, Juriy W; van der Maas, Paul J

2005-01-01

The purpose of this article is to provide clinicians who are involved in the field of foetal medicine with a comprehensive overview of theories that are relevant for the parental decision-making process after ultrasound diagnosis of a serious foetal abnormality. Since little data are available of parental decision-making after ultrasound diagnosis of foetal abnormality, we reviewed the literature on parental decision-making in genetic counselling of couples at increased genetic risk together with the literature on general decision-making theories. The findings were linked to the specific situation of parental decision-making after an ultrasound diagnosis of foetal abnormality. Based on genetic counselling studies, several cognitive mechanisms play a role in parental decision-making regarding future pregnancies. Parents often have a binary perception of risk. Probabilistic information is translated into two options: the child will or will not be affected. The graduality of chance seems to be of little importance in this process. Instead, the focus shifts to the possible consequences for future family life. General decision-making theories often focus on rationality and coherence of the decision-making process. However, studies of both the influence of framing and the influence of stress indicate that emotional mechanisms can have an important and beneficial function in the decision-making process. Cognitive mechanisms that are elicited by emotions and that are not necessarily rational can have an important and beneficial function in parental decision-making after ultrasound diagnosis of a foetal abnormality. Consequently, the process of parental decision-making should not solely be assessed on the basis of its rationality, but also on the basis of the parental emotional outcome. Copyright (c) 2005 S. Karger AG, Basel.

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

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Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

2014-01-01

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

[Recent advances in prenatal diagnostics].

Science.gov (United States)

Lapaire, O; Holzgreve, W; Miny, P; Hösli, I; Hahn, S; Tercanli, S

2006-11-01

During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

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Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus.

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Liao, Huifang; Cai, Ailu; Wang, Bing; Wang, Xiaoguang; Yan, Zhen; Li, Jingyu

2012-07-01

The purpose of this study was to evaluate the value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus. A case-control study was conducted between September 2009 and February 2011. We measured the width and length of 249 feet (156 fetuses) included in this study and then calculated the width to length ratio. All of the fetuses were followed to obtain the pregnancy outcomes and confirm whether the deformity existed; then the bimalleolar angle of each foot with talipes equinovarus was measured. Independent samples t tests were performed to compare the foot width, length, and width to length ratio between normal and talipes equinovarus groups. We also assessed the correlation between the width to length ratio and bimalleolar angle in the talipes equinovarus cases with the Pearson correlation coefficient. Statistically significant differences were shown between the two groups (Pshape can provide valuable information for prenatal diagnosis of clubfoot. Compared with a normal foot, a clubfoot tends to be wider and shorter. A higher width to length ratio is associated with a smaller bimalleolar angle and indicates a more severe talipes equinovarus deformity.

A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.

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Guven, M A; Uzel, M; Ceylaner, S; Coskun, A; Ceylaner, G; Gungoren, A

2008-01-01

We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.

Molecular Endoscopic Ultrasound for Diagnosis of Pancreatic Cancer

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Bournet, Barbara [Department of Gastroenterology, University Hospital Center Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9 (France); INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Pointreau, Adeline; Delpu, Yannick; Selves, Janick; Torrisani, Jerome [INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Buscail, Louis, E-mail: buscail.l@chu-toulouse.fr [Department of Gastroenterology, University Hospital Center Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9 (France); INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Cordelier, Pierre [INSERM U1037, University Hospital Center Rangueil, Toulouse (France)

2011-02-24

Endoscopic ultrasound-guided fine needle aspiration-biopsy is a safe and effective technique in diagnosing and staging of pancreatic ductal adenocarcinoma. However its predictive negative value does not exceed 50% to 60%. Unfortunately, the majority of pancreatic cancer patients have a metastatic and/or a locally advanced disease (i.e., not eligible for curative resection) which explains the limited access to pancreatic tissue specimens. Endoscopic ultrasound-guided fine needle aspiration-biopsy is the most widely used approach for cytological and histological material sampling in these situations used in up to two thirds of patients with pancreatic cancer. Based on this unique material, we and others developed strategies to improve the differential diagnosis between carcinoma and inflammatory pancreatic lesions by analysis of KRAS oncogene mutation, microRNA expression and methylation, as well as mRNA expression using both qRT-PCR and Low Density Array Taqman analysis. Indeed, differentiating pancreatic cancer from pseudotumoral chronic pancreatitis remains very difficult in current clinical practice, and endoscopic ultrasound-guided fine needle aspiration-biopsy analysis proved to be very helpful. In this review, we will compile the clinical and molecular advantages of using endoscopic ultrasound-guided fine needle aspiration-biopsy in managing pancreatic cancer.

Molecular Endoscopic Ultrasound for Diagnosis of Pancreatic Cancer

International Nuclear Information System (INIS)

Bournet, Barbara; Pointreau, Adeline; Delpu, Yannick; Selves, Janick; Torrisani, Jerome; Buscail, Louis; Cordelier, Pierre

2011-01-01

Endoscopic ultrasound-guided fine needle aspiration-biopsy is a safe and effective technique in diagnosing and staging of pancreatic ductal adenocarcinoma. However its predictive negative value does not exceed 50% to 60%. Unfortunately, the majority of pancreatic cancer patients have a metastatic and/or a locally advanced disease (i.e., not eligible for curative resection) which explains the limited access to pancreatic tissue specimens. Endoscopic ultrasound-guided fine needle aspiration-biopsy is the most widely used approach for cytological and histological material sampling in these situations used in up to two thirds of patients with pancreatic cancer. Based on this unique material, we and others developed strategies to improve the differential diagnosis between carcinoma and inflammatory pancreatic lesions by analysis of KRAS oncogene mutation, microRNA expression and methylation, as well as mRNA expression using both qRT-PCR and Low Density Array Taqman analysis. Indeed, differentiating pancreatic cancer from pseudotumoral chronic pancreatitis remains very difficult in current clinical practice, and endoscopic ultrasound-guided fine needle aspiration-biopsy analysis proved to be very helpful. In this review, we will compile the clinical and molecular advantages of using endoscopic ultrasound-guided fine needle aspiration-biopsy in managing pancreatic cancer

Ultrasound diagnosis of adrenal hemorrhage in meningococcemia

International Nuclear Information System (INIS)

Sarnaik, A.P.; Sanfilippo, D.J.K.; Slovis, T.L.; Children's Hospital of Michigan, Detroit; Wayne State Univ., Detroit, MI

1988-01-01

Adrenal hemorrhage (AH) is a well-described complication of the neonatal period, anticoagulant therapy, and overwhelming bacterial infection especially with N. meningitis. Until recently the diagnosis of acute AH was based predominantly on autopsy findings. Ultrasound and computed tomography examinations have been successfully used for antemortem detection of AH in neonates and anticoagulated patients. We report two patients with fulminant meningococcal infection who demonstrated bilateral adrenal hemorrhages on ultrasonography. (orig.)

Ultrasound diagnosis and monitoring of fetal tachyarrhythmias

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Yu.А. Ivaniv

2017-12-01

Full Text Available The aim – to evaluate the efficiency of prenatal echocardiography in detecting, differential diagnosis and monitoring fetuses with tachyarrhythmias. Materials and methods. Investigations performed in a single center from April 1996 to July 2016 were analysed. During this study 2,073 pregnant women were examined and 213 cases of fetal arrhythmia were found (10.3 %. Prenatal echocardiography was conducted by general protocol, each examination were fixed and saved in electronic and paper form. Results. During this period 25 cases of fetal tachyarrhythmias were diagnosed, representing 11.7 % of all cases of arrhythmia and 1.2 % of all fetal heart examinations. In five fetuses tachyarrhythmia was combined with structural heart disorders, which constitutes 20 % among all tachyarrhythmias. Most fetal tachyarrhythmias (21 were diagnosed during third trimester of pregnancy. The most common fetal tachyarrhythmia was atrioventricular «re-entry» tachycardia – 14 cases (56 %. None case of this group was combined with structural cardiac pathology, however, almost half were accompanied by hemodynamic complications. Drug treatment was effective in this group. Atrial fibrillation was second prevalent in our study, 4 cases (16 % – dangerous arrhythmia, which in most fetuses caused circulatory failure, being combined with congenital heart defect or myocardial pathology. Drug treatment in this group is less effective, depending on comorbidity and age pregnancy. We diagnosed 4 cases of sinus tachycardia (16 %, largely having benign course in the prenatal period and not requiring drug treatment. Prognosis of pregnancy is determined by concomitant diseases of the fetus. One case (4 % of atrial flutter required preterm delivery through the hemodynamic complications. Ectopic atrial tachycardia was diagnosed in two fetuses (8 %. This arrhythmia is insensitive to medical treatment and may persist after birth. Conclusions. Clinical management of pregnancy, the need

Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

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Ramush Bejiqi

2017-03-01

CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Evaluation of the diagnosis on staging of the bladder cancers by contrast-enhanced ultrasound

International Nuclear Information System (INIS)

Gao Yong; Xu Haiyan; Huan Haiming; Chen Yane

2010-01-01

Objective: To study the value of the staging of the bladder cancers with the contrast-enhanced ultrasound. Methods: After rapid injection of the contrast agent SonoVue through the elbow vein, the staging of images was completed in 18 cases of bladder cancer. Results: The results of contrast-enhanced ultrasound were compared with post-operative pathological analysis, the rate of accuracy of diagnosis on T1, T2, T3 and T4 stage was 100%, 80%, 83% and 100% respectively. The accuracy made by new methods higher than those of other imaging examinations in T1 stage; the other stages were similar to those of other imaging examinations. Conclusion: The evaluation of Contrast-enhanced ultrasound on the staging of the bladder cancer is higher than that of the conventional ultrasound examination, while the observation of blood flow in the tumor can make accurate diagnosis and differential diagnosis, this method can be complement each other with CT and MRI to improve the rate of accuracy on the staging of bladder cancer. (authors)

DIAGNOSIS OF GASTROSCHISIS IN THE FIRST TRIMESTER OF PREGNANCY - CASE REPORT

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Stefan Lončar

2011-12-01

Full Text Available Gastroschisis (gastroshisis represents evisceration of the abdominal organs, most commonly small bowels, stomach and gonads through the front abdominal wall defect, almost always to the right of the umbilicus (90% from which it is separated by thin skin bridge. The incidence of this anomaly is 0.5 to 4 per 10.000 liveborn babies. We presented a patient, aged 27 years, who had gastroschisis of the fetus in the 13th week of gestation diagnosed by ultrasound. Ultrasound examination is the method of choice for prenatal detection of fetal anomalies. By differential diagnosis, the possible existence of omphalocele should be eliminated using (2D, 3D and power Doppler technology which significantly makes the assessment of gynecologist easier during establishment of the final diagnosis.

ULTRASOUND AND COMPUTED TOMOGRAPHIC DIAGNOSIS OF OPTIC NERVE TUMORS

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S. V. Saakyan

2012-01-01

Full Text Available A comprehensive examination was made in 93 patients, including 18 children, with tumors of the optic nerve (ON. Duplex ultrasound scanning was performed in 39 patients, of them there were 11 patients with ON gliomas and 28 with ON meningiomas. The specific computed tomographic and echographic signs of ON glioma and meningiomas were detected. The studies have shown that duplex ultrasound scanning and structural computed tomography of orbital sockets are highly informative complementary imaging procedures for ON tumors, which permits one to make their correct diagnosis, to specify surgical volume, and to plan adequate treatment.

Computer-Aided Characterization and Diagnosis of Diffuse Liver Diseases Based on Ultrasound Imaging: A Review.

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Bharti, Puja; Mittal, Deepti; Ananthasivan, Rupa

2016-04-19

Diffuse liver diseases, such as hepatitis, fatty liver, and cirrhosis, are becoming a leading cause of fatality and disability all over the world. Early detection and diagnosis of these diseases is extremely important to save lives and improve effectiveness of treatment. Ultrasound imaging, a noninvasive diagnostic technique, is the most commonly used modality for examining liver abnormalities. However, the accuracy of ultrasound-based diagnosis depends highly on expertise of radiologists. Computer-aided diagnosis systems based on ultrasound imaging assist in fast diagnosis, provide a reliable "second opinion" for experts, and act as an effective tool to measure response of treatment on patients undergoing clinical trials. In this review, we first describe appearance of liver abnormalities in ultrasound images and state the practical issues encountered in characterization of diffuse liver diseases that can be addressed by software algorithms. We then discuss computer-aided diagnosis in general with features and classifiers relevant to diffuse liver diseases. In later sections of this paper, we review the published studies and describe the key findings of those studies. A concise tabular summary comparing image database, features extraction, feature selection, and classification algorithms presented in the published studies is also exhibited. Finally, we conclude with a summary of key findings and directions for further improvements in the areas of accuracy and objectiveness of computer-aided diagnosis. © The Author(s) 2016.

Emotional and cognitive experiences during the time of diagnosis and decision-making following a prenatal diagnosis: a qualitative study of males presented with congenital heart defect in the fetus carried by their pregnant partner.

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Carlsson, Tommy; Mattsson, Elisabet

2018-01-12

Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner. Twelve expectant fathers were consecutively recruited through two tertiary referral centers for fetal cardiology in Sweden, after they had been presented with a prenatal diagnosis of congenital heart defect in the fetus carried by their pregnant partner. The respondents were interviewed via telephone, and the interviews were analyzed using inductive qualitative content analysis. The respondents experienced an intense emotional shock in connection with detection. However, they set their own needs aside to attend to the supportive needs of their pregnant partner, and stressed the importance of an informed joint decision regarding whether to continue or terminate the pregnancy. When terminating the pregnancy, they experienced a loss of a wanted child, an emotionally intense termination procedure, needs of support neglected by professionals, and worries about the risk of recurrence in future pregnancies. When continuing the pregnancy, they tried to keep a positive attitude about the coming birth, but were simultaneously worried about the postnatal situation. The findings illustrate the importance of inclusive care and adequate follow-up routines for both expectant parents following a prenatal diagnosis. This includes the initial emotional shock, the decisional process, and depending on decision reached, the termination or continuation of the pregnancy. Expectant fathers presented with a fetal anomaly need adequate follow-up routines to address worries about risk of recurrence

Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

Science.gov (United States)

Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

2016-01-01

Abstract To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy. In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment. PMID:26945416

Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden

DEFF Research Database (Denmark)

Bodin, Charlotte; Rasmussen, Mikkel Mylius; Tabor, Ann

2018-01-01

Objectives: The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods: Data were retrieved from the Danish Fetal Medicine Da...

Added value of three-dimensional ultrasound with STIC technology in the diagnosis of fetus with cardiac abnormalities

International Nuclear Information System (INIS)

Xie Hongning; Zhu Yunxiao; Lin Meifang; Li Lijuan; Wang Zilian; Shi Huijuan

2010-01-01

Objective: To evaluate the diagnostic accuracy of the spatio-temporal image correlation (STIC) technology of three- dimensional ultrasound (3DUS) for fetal congenital heart disease (CHD). Methods: The study was conducted in the First Affiliated Hospital of Sun Yat-sen University from January 2006 to October 2008. Twenty-four fetuses with suspected cardiac defects on routine 2DUS underwent STIC volume sweep. The diagnosis was confirmed by autopsy. Fetal cardiac STIC volume data set was analyzed by using the software of 4D View (GE, Kretztechnik). The concordance of' fetal cardiac defects diagnosed on 2DUS and STIC was compared to autopsy. Results: There were 92 cardiac defects in 24 cases. The overall concordance of various fetal cardiac defects diagnosed on STIC (97.8%) was significantly higher than that of 2DUS (64.1%) (P 0.05). However, concordance rate of STIC (100%, 100%, 97.5%) was significantly (P<0.05) higher than that of 2DUS (37.5%, 54.5%, 57.5%) for diagnosing anomalies of atrio-venous junction and ventriculo-arterial junction, arterial trunk and its branch. Conclusion: STIC technology of 3DUS may provide considerable diagnostic information for prenatal diagnosis of complex CHD, especially in abnormalities of atrio-venous junction, ventriculo-arterial junction, arterial trunk and its branches. (authors)

The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards.

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Carlsson, Tommy; Starke, Veronica; Mattsson, Elisabet

2017-05-01

to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. cross-sectional qualitative study of messages in public online discussion boards. Swedish public discussion boards about reproductive subjects. ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches. three phases were identified in the process of moving from the diagnosis to the birth: shock, existential crisis, and life remodeling. The people posting message ('posters') moved from initial shock to existential crisis and, lastly, a phase of remodeling life later in the pregnancy. During the pregnancy, considerable worries about both antenatal and postnatal aspects were expressed. To cope with their situation, the posters distanced themselves from the diagnoses, vented their feelings, sought control, and obtained practical support from friends and relatives. expectant parents faced with a prenatal diagnosis move from initial shock to a phase of life remodeling and acceptance. Burdened with considerable worries, expectant parents cope with their situation through informational, emotional, and instrumental support from health professionals, family, friends, and peers. health professionals should make sure that expectant parents feel involved in planning their children's postnatal care, that they are offered sufficient information, and that they have access to emotional and instrumental support structures. Copyright © 2017. Published by Elsevier Ltd.

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Pediatric Lung Abscess: Immediate Diagnosis by Point-of-Care Ultrasound.

Science.gov (United States)

Kraft, Clara; Lasure, Benjamin; Sharon, Melinda; Patel, Paulina; Minardi, Joseph

2018-06-01

The diagnosis of lung abscess can be difficult to make and often requires imaging beyond plain chest x-ray. The decision to further image with computed tomography should be weighed against the risks of radiation exposure, especially in pediatric patients. In addition, the cost and potential impact on length of stay from obtaining computed tomography scans should be considered. In this report, we describe a case of lung abscess made immediately using point-of-care ultrasound in the emergency department. To our knowledge, there are no previous cases describing lung abscess diagnosed by point-of-care ultrasound. This case report aims to describe a case of pediatric lung abscess, review the ultrasound findings, and discuss relevant literature on the topic.

Diagnosis of Complex Pulley Ruptures Using Ultrasound in Cadaver Models.

Science.gov (United States)

Schöffl, Isabelle; Hugel, Arnica; Schöffl, Volker; Rascher, Wolfgang; Jüngert, Jörg

2017-03-01

Pulley ruptures are common in climbing athletes. The purposes of this study were to determine the specific positioning of each pulley with regards to the joint, and to evaluate the ultrasound diagnostics of various pulley rupture combinations. For this, 34 cadaver fingers were analyzed via ultrasound, the results of which were compared to anatomic measurements. Different pulley ruptures were then simulated and evaluated using ultrasound in standardized dynamic forced flexion. Visualization of the A2 and A4 pulleys was achieved 100% of the time, while the A3 pulley was visible in 74% of cases. Similarly, injuries to the A2 and A4 pulleys were readily observable, while A3 pulley injuries were more challenging to identify (sensitivity of 0.2 for singular A3 pulley, 0.5 for A2/A4 pulley and 0.33 for A3/A4 pulley ruptures). Receiver operating characteristic analysis was used to evaluate the optimal tendon-bone distance for pulley rupture diagnosis, a threshold which was determined to be 1.9 mm for A2 pulley ruptures and 1.85 for A4 pulley ruptures. This study was the first to carry out a cadaver ultrasound examination of a wide variety of pulley ruptures. Ultrasound is a highly accurate tool for visualizing the A2 and A4 pulleys in a cadaver model. This method of pathology diagnosis was determined to be suitable for injuries to the A2 and A4 pulleys, but inadequate for A3 pulley injuries. Copyright © 2016 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

Addressing Obstetrical Challenges at 12 Rural Ugandan Health Facilities: Findings from an International Ultrasound and Skills Development Training for Midwives in Uganda.

Science.gov (United States)

Kinnevey, Christina; Kawooya, Michael; Tumwesigye, Tonny; Douglas, David; Sams, Sarah

2016-01-01

Like much of Sub-Saharan Africa, Uganda is facing significant maternal and fetal health challenges. Despite the fact that the majority of the Uganda population is rural and the major obstetrical care provider is the midwife, there is a lack of data in the literature regarding rural health facilities' and midwives' knowledge of ultrasound technology and perspectives on important maternal health issues such as deficiencies in prenatal services. A survey of the current antenatal diagnostic and management capabilities of midwives at 12 rural Ugandan health facilities was performed as part of an international program initiated to provide ultrasound machines and formal training in their use to midwives at antenatal care clinics. The survey revealed that the majority of pregnant women attend less than the recommended minimum of four antenatal care visits. There were significant knowledge deficits in many prenatal conditions that require ultrasound for early diagnosis, such as placenta previa and macrosomia. The cost of providing ultrasound machines and formal training to 12 midwives was $6,888 per powered rural health facility and $8,288 for non-powered rural health facilities in which solar power was required to maintain ultrasound. In order to more successfully meet Millennium Development Goal 4 (reduce child mortality), 5 (improve maternal health) and 6 (combat HIV) through decreasing maternal to child transmission of HIV, the primary healthcare provider, which is the midwife in Uganda, must be competent at the diagnosis and management of a wide spectrum of obstetrical challenges. A trained ultrasound-based approach to obstetrical care is a cost effective method to take on these goals.

Ultrasound imaging in medical student education: Impact on learning anatomy and physical diagnosis.

Science.gov (United States)

So, Sokpoleak; Patel, Rita M; Orebaugh, Steven L

2017-03-01

Ultrasound use has expanded dramatically among the medical specialties for diagnostic and interventional purposes, due to its affordability, portability, and practicality. This imaging modality, which permits real-time visualization of anatomic structures and relationships in vivo, holds potential for pre-clinical instruction of students in anatomy and physical diagnosis, as well as providing a bridge to the eventual use of bedside ultrasound by clinicians to assess patients and guide invasive procedures. In many studies, but not all, improved understanding of anatomy has been demonstrated, and in others, improved accuracy in selected aspects of physical diagnosis is evident. Most students have expressed a highly favorable impression of this technology for anatomy education when surveyed. Logistic issues or obstacles to the integration of ultrasound imaging into anatomy teaching appear to be readily overcome. The enthusiasm of students and anatomists for teaching with ultrasound has led to widespread implementation of ultrasound-based teaching initiatives in medical schools the world over, including some with integration throughout the entire curriculum; a trend that likely will continue to grow. Anat Sci Educ 10: 176-189. © 2016 American Association of Anatomists. © 2016 American Association of Anatomists.

Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father

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Chih-Ping Chen

2012-06-01

Conclusion: Prenatal ultrasound diagnosis of mild forms of OI should include molecular analysis of type I collagen genes in both fetus and parents. Molecular genetic analysis of the family may incidentally identify a collagen gene mutation in the paucisymptomatic affected parent.

The role of abdominal ultrasound in the diagnosis of typhoid fever: an observational study.

Science.gov (United States)

Younis, Saeed Nadhim

2014-01-01

To study the usefulness of abdominal ultrasound in the diagnosis of typhoid fever and to determine the common ultrasound findings early in the course of the disease. Abdominal ultrasound examination was performed within the first week of initiation of symptoms in 350 cases with clinical diagnosis of typhoid fever. Subsequent ultrasound follow-up examination was done 15 days later (beginning of the third week). All the patients proved to have positive Widal test and Sallmonella culture. The study was performed in Erbil-Iraq from the period January 1993 to October 2010. The following ultrasound findings were reported: hepatomegaly (31.4%), prominent intrahepatic bile ducts (64.85%), splenomegaly (100%), mesenteric lymphadenopathy (42.85%), bowel wall thickening (35.71%), acalculous cholecystitis (16.28%), perforations (1.14%), and ascites in (3.4%). The current study showed that the findings are typical enough to justify initiation of treatment for typhoid fever when serology is equivocal and culture is negative, and is fairly safe to say that normal ultrasound examination early in the course of febrile illness rules out typhoid fever. Copyright © 2013 Elsevier Ltd. All rights reserved.

Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

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Yanuarita Tursinawati

2015-08-01

Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

Directory of Open Access Journals (Sweden)

Yanuarita Tursinawati

2015-12-01

Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

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Harvey J. Stern

2014-03-01

Full Text Available Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH, to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.

Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

Science.gov (United States)

Stern, Harvey J.

2014-01-01

Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD) has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH), to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology. PMID:26237262

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

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Francesco Libotte

2016-12-01

Conclusion: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p.

THE ABILITY OF CONTRAST-ENHANCED ULTRASOUND IN THE DIAGNOSIS OF LIVER METASTASES IN CERVICAL CANCER

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V. S. Kryazheva

2017-01-01

Full Text Available Objective: to explore the possibilities of contrast-enhanced ultrasound (CEUS in the diagnosis of liver metastases in patients with a diagnosis of cervical cancer.Materials and methods. We analyzed the results of 4 clinical cases, of which 3 cases according CEUS diagnosed with liver metastases, in 1 case – nodular hyperplasia.Results and conclusions. Despite the small number of observations, we have concluded that the use of CEUS allows to expand possibilities of the ultrasound method in the differential diagnosis of focal changes in the liver.

Prenatal diagnosis of arachnoid cyst

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Korkut Daglar

2016-12-01

Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

Radioimmunoassays in prenatal genetic diagnosis

International Nuclear Information System (INIS)

Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

1981-01-01

Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

Noninvasive prenatal diagnosis. Use of density gradient centrifugation, magnetically activated cell sorting and in situ hybridization

DEFF Research Database (Denmark)

Campagnoli, C; Multhaupt, H A; Ludomirski, A

1997-01-01

OBJECTIVE: To develop a noninvasive method suitable for clinical prenatal diagnosis. STUDY DESIGN: Fetal nucleated erythrocytes were separated from peripheral blood of 17 healthy pregnant women using small magnetically activated cell sorting columns (MiniMACS) following density gradient centrifug...

Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

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Chih-Ping Chen

2011-09-01

Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2→q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

Ultrasound detection of placenta accreta in the first trimester of pregnancy.

Science.gov (United States)

Rahimi-Sharbaf, Fatemeh; Jamal, Ashraf; Mesdaghinia, Elaheh; Abedzadeh-Kalahroudi, Masoumeh; Niroomanesh, Shirin; Atoof, Fatemeh

2014-06-01

Placenta accreta is considered a life-threatening condition and the main cause of maternal mortality. Prenatal diagnosis of placenta accreta usually is made by clinical presentation, imaging studies like ultrasound and MRI in the second and third trimester. To determine accuracy of ultrasound findings for placenta accreta in the first trimester of pregnancy. In a longitudinal study 323 high risk patients for placenta accreta were assessed. The eligible women were examined by vaginal and abdominal ultrasound for gestational sac and placental localization and they were followed up until the end of pregnancy. The ultrasound findings were compared with histopathological examinations as a gold standard. The sensitivity, specificity, positive and negative predictive value of ultrasound were estimated for the first trimester and compared with other 2 trimesters in the case of repeated ultrasound examination. Ultrasound examinations in the first trimester revealed that 28 cases had the findings in favor of placenta accreta which ultimately was confirmed in 7 cases. The ultrasound sensitivity and specificity for detecting placenta accreta in the first trimester was 41% [95% CI: 16.2-62.7] and 88% [95% CI: 88.2-94.6] respectively. Ultrasound screening for placenta accreta in the first trimester of pregnancy could not achieve the high sensitivity as second and third trimester of pregnancy.

Development of new technological applications for post- and prenatal diagnosis of the hemoglobinopathies

OpenAIRE

Phylipsen, Marion

2013-01-01

Hemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical and molecular testing. Results of all tests together form the complete diagnosis. The main objective of this thesis was to improve post- and prenatal diagnostics of the hemoglobinopathies. Several molecular assays have been designed, tested and validated. In addition, a number of informative hemoglo...

THE POTENTIAL VALUE OF ULTRASOUND IN DIAGNOSIS OF SOFT TISSUE SARCOMA (LITERATURE REVIEW

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I. G. Frolova

2015-01-01

Full Text Available Literature data on the potential value of ultrasound imaging in diagnosis of soft tissue sarcoma were analyzed. Ultrasound in B-regime was used to assess the extent of soft tissue sarcoma, Doppler ultrasonography was used to study tumor vascularization and sonoelastography was useful to differentiate benign from malignant tumors of soft tissues. The analysis of diagnostic value of ultrasound in detection of soft tissue lesions was carried out.  Criteria characterizing various histological types of tumors were identified.

Prenatal Diagnosis of Fetal Interrupted Aortic Arch Type A by Two-Dimensional Echocardiography and Four-Dimensional Echocardiography with B-Flow Imaging and Spatiotemporal Image Correlation.

Science.gov (United States)

Zhang, Dongyu; Zhang, Ying; Ren, Weidong; Sun, Feifei; Guo, Yajun; Sun, Wei; Wang, Yu; Huang, Liping; Cai, Ailu

2016-01-01

Fetal interrupted aortic arch (IAA) is a rare cardiac anomaly and its prenatal diagnosis is challenging. The purpose of our report is to evaluate the use of two-dimensional echocardiography (2DE) and 4D echocardiography with B-flow imaging and spatiotemporal image correlation (4D BF-STIC) in detecting IAA type A (IAA-A). Twenty-three cases of confirmed IAA-A identified by fetal echocardiography were involved in the study. The fetal echocardiography image data were reviewed to analyze the ratio of right ventricle to left ventricle (RV/LV) diameter, the ratio of main pulmonary artery to ascending aorta (MPA/AAO) diameter, and the correlation of RV/LV diameter ratio and size of ventricular septal defect (VSD). 4D BF-STIC was performed in 21 fetuses using the sagittal view (4D BF-STIC-sagittal) and the four-chamber view (4D BF-STIC-4CV) as initial planes of view. An additional 183 normal fetuses were also included in our study. RV/LV and MPA/AAO ratios were calculated and compared with that of IAA-A fetuses. Fetal 2DE, 4D BF-STIC-sagittal, and 4D BF-STIC-4CV were used to visualize the aortic arch and its associated neck vessels. Six subgroups were evaluated according to gestational age. Fetal 2DE, 4D BF-STIC-sagittal, and 4D BF-STIC-4CV made the correct prenatal diagnosis of IAA-A in 19/23 (82.6%), 14/21 (66.7%), and 19/21 (90.5%) of patients, respectively. A significantly enlarged MPA combined with symmetric ventricles was found in the IAA-A fetuses, while the size of the VSD was negatively correlated with RV/LV ratio. 4D BF-STIC-sagittal and 4D BF-STIC-4CV were better than traditional 2D ultrasound in detecting the aortic arch and neck vessels between 17 and 28 gestational weeks and 29 to 40 gestational weeks in normal fetuses. It is demonstrated that IAA-A could be diagnosed by traditional fetal echocardiography, while 4D technique could better display the anatomic structure and the spatial relationships of the great arteries. Use of volume reconstruction may

Integrated ultrasound and gamma imaging probe for medical diagnosis

International Nuclear Information System (INIS)

Pani, R.; Pellegrini, R.; Cinti, M. N.; Polito, C.; Orlandi, C.; Fabbri, A.; Vincentis, G. De

2016-01-01

In the last few years, integrated multi-modality systems have been developed, aimed at improving the accuracy of medical diagnosis correlating information from different imaging techniques. In this contest, a novel dual modality probe is proposed, based on an ultrasound detector integrated with a small field of view single photon emission gamma camera. The probe, dedicated to visualize small organs or tissues located at short depths, performs dual modality images and permits to correlate morphological and functional information. The small field of view gamma camera consists of a continuous NaI:Tl scintillation crystal coupled with two multi-anode photomultiplier tubes. Both detectors were characterized in terms of position linearity and spatial resolution performances in order to guarantee the spatial correspondence between the ultrasound and the gamma images. Finally, dual-modality images of custom phantoms are obtained highlighting the good co-registration between ultrasound and gamma images, in terms of geometry and image processing, as a consequence of calibration procedures

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

International Nuclear Information System (INIS)

Miyazaki, Osamu; Horiuchi, Tetsuya; Nishimura, Gen; Sago, Haruhiko; Hayashi, Satoshi; Kosaki, Rika

2012-01-01

Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

Energy Technology Data Exchange (ETDEWEB)

Miyazaki, Osamu; Horiuchi, Tetsuya [National Center for Child Health and Development, Department of Radiology, Seatagaya-ku, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Fuchu-shi, Tokyo (Japan); Sago, Haruhiko; Hayashi, Satoshi [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Seatagaya-ku, Tokyo (Japan); Kosaki, Rika [National Center for Child Health and Development, Department of Strategic Medicine, Division of Clinical Genetics and Molecular Medicine, Seatagaya-ku, Tokyo (Japan)

2012-07-15

Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

Carcinoma of the colon: Diagnosis by ultrasound and enema

International Nuclear Information System (INIS)

Cremin, B.J.; Brown, R.A.

1987-01-01

Carcinoma of the colon presenting before puberty is rare and few cases have been recorded in radiological literature. The symptomatology is usually vague but may be similar to the classical presentation of adults. The barium enema will also show the same constricting lesions. Two cases are reported, in one of which the initial diagnosis was made by ultrasound. (orig.)

Carcinoma of the colon: Diagnosis by ultrasound and enema

Energy Technology Data Exchange (ETDEWEB)

Cremin, B.J.; Brown, R.A.

1987-05-01

Carcinoma of the colon presenting before puberty is rare and few cases have been recorded in radiological literature. The symptomatology is usually vague but may be similar to the classical presentation of adults. The barium enema will also show the same constricting lesions. Two cases are reported, in one of which the initial diagnosis was made by ultrasound.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Science.gov (United States)

Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

2016-10-01

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

Impact of prenatal ultrasound consultation on maternal anxiety

International Nuclear Information System (INIS)

Masroor, I.; Ajmal, F.; Ahmed, H.

2008-01-01

To determine whether ultrasound consultation reduces maternal anxiety and increases feto-maternal attachment ( the desire to care for the fetus and care for self). Patients coming for routine obstetric ultrasound at the Department of Radiology, Aga Khan University Hospital Karachi were recruited in the study. The study was carried out over the period of two months from January-February 2007 in which sixty patients were included in the study. Patients were randomly assigned to a standard care group or an ultrasound consultation group (30 patients in each arm). Both groups were required to fill a questionnaire before and after their ultrasound examination. The ultrasound consultation group in addition received counseling before they went in for the ultrasound regarding fetal development and maternal-fetal interaction. The two groups were then compared for difference of change in feto maternal attachment scores and change in anxiety levels regarding their pregnancies before and after the ultrasound. SPSS software (version 14) was used for compilation of the data and the statistical computations. Categorical data was compared using Chi-square test and continuous variables were analyzed with paired t-test. P value <0.05 was considered significant. A positive difference in feto-maternal attachment and reduction in anxiety levels was seen in both the groups but this difference was statistically significant in the ultrasound consultation group only. This study suggests that ultrasound examinations with prior consultation has a positive impact on patients as it strengthens bonding toward the fetus, reduces maternal anxiety and increases maternal investment in health during the pregnancy. (author)

[Prenatal intestinal volvulus: A life-threatening event with good long-term outcome].

Science.gov (United States)

Raherison, R; Grosos, C; Lemale, J; Blondiaux, E; Sabourdin, N; Dahan, S; Rosenblatt, J; Guilbert, J; Jouannic, J-M; Mitanchez, D; Audry, G; Auber, F

2012-04-01

To describe the outcome of neonates with prenatal intestinal volvulus. All neonates with prenatal intestinal volvulus managed in our institution between May 2004 and December 2010 were retrospectively studied. All neonates with prenatal or neonatal diagnosis of prenatal intestinal volvulus were included. We analyzed age at diagnosis, fetal ultrasound (US) scan and magnetic resonance imaging (MRI) findings, clinical signs at birth, surgical findings, management, and postoperative outcome. Ten neonates with prenatal intestinal volvulus were identified. Prenatal US scans or MRI demonstrated evidence of meconium peritonitis in one fetus and bowel dilatation in 2 others. The mean gestational age at birth was 36 weeks (range, 31-38 weeks) and the mean birth weight was 2811g (range, 2050-3700g). One premature neonate developed respiratory distress and required ventilatory support at birth. In 7 neonates, clinical examination showed distended abdomen and emesis, whereas plain abdominal radiographs showed intestinal obstruction. All neonates underwent surgery and all had normal intestinal rotation, except one with total intestinal volvulus secondary to malrotation. Other causes of volvulus were suspected in 4 neonates: mesenteric defect (n=1), intestinal atresia (n=2) and narrow mesentery (n=1). Detorsion of total volvulus, ileostomy, or intestinal resection with primary anastomosis was performed in 2, 5, and 3 neonates, respectively. One patient with total intestinal volvulus secondary to malrotation died, whereas all other neonates survived. In one patient, the postoperative course was complicated by intestinal dysmotility of the distal small bowel requiring a secondary jejunoileostomy. Stoma closure was subsequently performed at 1 year of age with good outcome. One patient developed angiocholitis treated successfully with antibiotics. Median time to initiate enteral feeds was 7 days (range, 4-16 days) and all patients were subsequently weaned from parenteral nutrition

Ultrasound diagnosis of pulmonary hypertension in children with chronic bronchopulmonary diseases

International Nuclear Information System (INIS)

Kondrat'ev, V.O.

2000-01-01

Ultrasound criteria of diagnosis of pulmonary hypertension and study this complication frequency in children with chronic bronchopulmonary diseases was determined. As diagnostic criteria of pulmonary hypertension Doppler echocardiographic indices of circulation in the pulmonary arteries are suggested

THE ABILITY OF CONTRAST-ENHANCED ULTRASOUND IN THE DIAGNOSIS OF LIVER METASTASES IN CERVICAL CANCER

OpenAIRE

V. S. Kryazheva; M. A. Chekalova; Z. R-B. Musaeva; V. V. Kuznetsov

2017-01-01

Objective: to explore the possibilities of contrast-enhanced ultrasound (CEUS) in the diagnosis of liver metastases in patients with a diagnosis of cervical cancer.Materials and methods. We analyzed the results of 4 clinical cases, of which 3 cases according CEUS diagnosed with liver metastases, in 1 case – nodular hyperplasia.Results and conclusions. Despite the small number of observations, we have concluded that the use of CEUS allows to expand possibilities of the ultrasound method in the...

Prenatal diagnosis of homozygous β-thalassemia

International Nuclear Information System (INIS)

Loukopoulos, D.

1980-11-01

An in vitro test for the prenatal diagnosis of homozygous β-thalassaemia and its application is described. The basic methodology consists in obtaining a minute specimen of placental blood by blind aspiration or foetoscopy at the 18th to 20th week of gestation, incubating a sample in the presence of 3 H-leucine, separating the labelled globin chains by chromatography on sodium carboxymethyl cellulose microcolumns with 8M urea-mercaptoethanol and measuring the radioactivity associated with the β- and γ-chains. The β/(pre-γ+γ) radioactivity ratio is used as an index of adequacy of β-chain synthesis, a value greater than 0.07 being taken as indicative of freedom from disease and a value less than 0.03 indicative of homozygous β-thalassaemia. From 350 women seeking the test, 344 samples were tested; 269 were judged normal or heterozygous, 75 homozygous for β-thalassaemia. Four false negatives were identified, 3 having given borderline β/(pre-γ+γ) ratios. Complications leading to foetal loss fell from 16% over the first year's experience to 8% over the second and 5% over the third. The test is now judged suitable for general use and is indeed being so used

Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

DEFF Research Database (Denmark)

Rasmussen, Maria; Sunde, Lone; Andersen, René F

2017-01-01

AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of foetuses diagnosed with parenchymal kidney anomalies...... between 2007 and 2012 had previously been identified. These were compared with foetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age. Cumulative incidences of UTIs were...... computed. Mortality was estimated using the Kaplan-Meier method. RESULTS: We identified 412 foetuses with parenchymal kidney anomalies out of 362 069 who underwent ultrasound scans and 277 were born alive. The overall risk of a UTI before the age of two years was 19%, and it was 14% among infants without...

Breaking bad news in prenatal medicine: a literature review.

Science.gov (United States)

Luz, Rita; George, Astrid; Spitz, Elisabeth; Vieux, Rachel

2017-02-01

The diagnosis of a fetal anomaly in perinatal medicine forces expectant parents and healthcare providers to face the difficult process of breaking bad news. This exploratory literature review was aimed at providing a medical and psychological view of the psychological experience in expectant parents and physicians in the context of prenatal diagnosis of a fetal anomaly. An exploratory search of PubMed and PsycINFO/PsycARTICLES databases performed by an interdisciplinary team composed of a physician and psychologists. Search terms were: prenatal diagnosis AND bad news; prenatal diagnosis AND psychological consequences; prenatal diagnosis AND psychological sequelae; prenatal diagnosis AND fetal abnormality. The processing of selected articles followed a standardised five-step procedure. A total of 860 articles were screened of which 32 were retained for analysis. Four main themes emerged from the explanatory content analysis: (1) parents' subjective experience; (2) physicians' subjective experience; (3) encounters between expectant parents and professionals; and (4) ethical challenges in breaking bad news in prenatal medicine. Expectant parents go through a complex and multidimensional experience when the diagnosis of a fetal anomaly is disclosed. Simultaneously, physicians consider breaking bad news as a very stressful event and are poorly prepared in this regard. A better knowledge of factors underlying psychological adjustment of the parental dyad and on the subjective experience of physicians delivering these diagnoses could enable better adaptation for both patients and professionals.

Point-of-care Ultrasound for the Diagnosis of a Gluteal Abscess

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Kevin Roy

2018-01-01

Full Text Available History of present illness: A 57-year-old male with a history of intravenous drug use presented to the emergency department with four days of progressively worsening pain and swelling to his left buttock after injecting heroin subcutaneously (i.e., “skin popping”. Labs were significant for a white blood cell count (WBC of 26,700/mm3. Using the high frequency, linear probe, a point-of-care ultrasound (POCUS was performed and revealed a large soft tissue abscess. Significant findings: POCUS reveals a large, hypoechoic soft tissue abscess with debris and tracks extending to the bottom of the image. Furthermore, when compressed, movement of the abscess contents is appreciated. There is also superficial cobble-stoning consistent with overlying cellulitis and soft tissue edema. Discussion: In the United States, there are over 14 million outpatient visits per year related to soft tissue infections, with nearly one-third being seen in the emergency department.1,2 22%-65% of intravenous drug users experience abscesses and cellulitis.3 Soft tissue abscesses are commonly encountered in the emergency department and the diagnosis is often made by history and physical exam.5 However, imaging modalities are more accurate than physical exam alone. When comparing ultrasound to physical exam in the diagnosis of soft tissue abscesses, one study suggests that ultrasound has a sensitivity and specificity of 96% and 87%, respectively. The sensitivity and specificity of the physical exam is 84% and 60%, respectively.4 Another study comparing computed tomography (CT to ultrasound in the diagnosis of abscesses found ultrasound to have a sensitivity and specificity of 96.7% and 85.7%, respectively, while the overall sensitivity and specificity of CT was 76.7% and 91.4%, respectively. Ultrasound was superior in overall image detail ratings and demonstrated more visible detail within the abscess cavity. 5 When utilizing POCUS to evaluate for an abscess, look for an

Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

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Maria Carolina de Abreu Sampaio

2007-08-01

Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

NARCIS (Netherlands)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

DEFF Research Database (Denmark)

Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

2014-01-01

. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo......-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye...... anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder....

The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.

Science.gov (United States)

Benacerraf, Beryl B

2012-03-01

Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis.

Prenatal 3- and 4-dimensional Ultrasonographic Findings of Giant Fetal Nuchal Hemangioma

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Jenn-Jhy Tseng

2007-10-01

Full Text Available A precise prenatal diagnosis of hemangioma may be uncertain although a variety of the antenatal appearances on 2-dimensional sonography have been reported. A 27-year-old primigravida was referred at 32 weeks of gestation for evaluation of a fetal nuchal mass. Two-dimensional sonography showed an extracranial mixed echogenic mass (65 × 54 × 59 mm occupying the posterior neck. Color Doppler imaging revealed intense hypervascularization. Three-dimensional (3D and 4-dimensional (4D sonography showed that the mass was lobulated, with a lumpy internal structure. Nuchal hemangioma was further confirmed by clinical examination and postnatal magnetic resonance imaging. The tumor began to regress in size when the infant was 7 months old. Prenatal 3D/4D ultrasound techniques could be considered as complementary diagnostic tools for such a tumor. They have the advantages of providing accurate and inexpensive virtual reality images through more realistic interactions with the virtualized in utero condition.

Value of radiological and ultrasound examination in the prenatal diagnosis of the siren syndrome

Energy Technology Data Exchange (ETDEWEB)

Fiegler, W; Hunsdiek, F W

1980-11-01

A sirenomelia is described. In addition to the characteristic single lower extremity, there are also, as in all cases of sympodia, severe malformations in the urogenital system, intestine, pelvis and vertebral column. The various theories of genesis are discussed. Ultrasound can be used as a screening procedure in early detection of deformities. So it is possible to avoid an emergency section in cases, where a non-viable child is endangered by intrauterine asphyxia.

Value of radiological and ultrasound examination in the prenatal diagnosis of the siren syndrome

Energy Technology Data Exchange (ETDEWEB)

Fiegler, W; Hunsdiek, F W

1980-11-01

A sirenomelia is described. In addition to the characteristic single lower extremity, there are also, as in all cases of sympodia, severe malformations in the urogenital system, intestine, pelvis and vertebral column. The various theories of genesis are discussed. Ultrasound can be used as a screening procedure in early detection of deformities. So it is possible to avoid an emergency sectio in cases, where a non-viable child is endangered by intrauterine asphyxia.

Fetal MRI and ultrasound of congenital CNS anomalies

International Nuclear Information System (INIS)

Pogledic, I.; Reith, W.; Meyberg-Solomayer, G.

2013-01-01

In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [de

El diagnóstico prenatal de defectos cromosómicos en Costa Rica

Directory of Open Access Journals (Sweden)

Isabel Castro Volio

2004-09-01

Full Text Available Esta es una breve reseña histórica del diagnóstico prenatal citogenético en Costa Rica. Se realiza únicamente en el Instituto de Investigaciones en Salud de la Universidad de Costa Rica desde el año 1984. Sirve a los hospitales de la seguridad social y a la medicina privada. Trabajamos con muestras de líquido amniótico y de sangre fetal enviadas por los perinatólogos, provenientes de embarazos de alto riesgo, ya sea por presentar alteraciones en el ultrasonograma, marcadores sonográficos de aneuploidía o edad materna avanzada, entre otras indicaciones menos frecuentes. El diagnóstico se realiza en el segundo y en el tercer trimestre de gestación. Como la interrupción del embarazo no es permitida, el personal médico y la familia se prepara con tiempo para recibir de la mejor manera al neonato afectado. En los casos de cariotipo normal, esta información alivia la preocupación de los padres.Prenatal diagnosis of chromosomic defects in Costa Rica. This is an historical overview of prenatal cytogenetic diagnosis in Costa Rica. It started in 1984 at the Institute for Health Research of the University of Costa Rica. This is the only fetal cytogenetic diagnosis facility in the country and serves social security as well as private patients. Perinatologists send amniotic fluid and fetal blood samples from high risk pregnancies, mainly due to abnormal ultrasound assessment, sonographic markers of aneuploidy and advanced maternal age. Second and third trimester diagnosis allows the development of coping strategies for the families of affected fetuses, since pregnancy interruption is not permitted. Normal fetal cytogenetic results provide reassurance to the parents. Rev. Biol. Trop. 52(3: 545-549. Epub 2004 Dic 15.

Three-dimensional ultrasound in the diagnosis of Müllerian duct anomalies and concordance with magnetic resonance imaging.

Science.gov (United States)

Bermejo, C; Martínez Ten, P; Cantarero, R; Diaz, D; Pérez Pedregosa, J; Barrón, E; Labrador, E; Ruiz López, L

2010-05-01

To demonstrate the value of three-dimensional (3D) ultrasound in the diagnosis of uterine malformations and its concordance with magnetic resonance imaging (MRI). This study included 286 women diagnosed with uterine malformation by 3D ultrasound, having been referred to our clinics on suspicion of uterine malformation following clinical and/or conventional two-dimensional ultrasound examination. With the exception of three with intact hymen, patients underwent both bimanual examination and speculoscopy before and/or after sonography. MRI was performed in 65 cases. We analyzed the diagnostic concordance between the techniques in the study of uterine malformations. Using 3D ultrasound we diagnosed: one case with uterine agenesis; 10 with unicornuate uterus, four of which also underwent MRI; six with didelphic uterus, one of which had MRI; 45 with bicornuate uterus, 12 of which had MRI; 125 with septate uterus (18 with two cervices), 42 of which had MRI (six with two cervices); 96 with arcuate uterus, three of which had MRI; and three with diethylstilbestrol (DES) iatrogenic uterine malformations, all of which had MRI. Among the 65 which underwent MRI, the diagnosis was: four cases with unicornuate uterus, 10 with bicornuate uterus (two with two cervices), 45 with septate uterus (five with two cervices), three with arcuate uterus and three with DES-related uterine malformations. The concordance between 3D ultrasound and MRI was very good (kappa index, 0.880 (95% CI, 0.769-0.993)). Discrepancies in diagnosis between the two techniques occurred in four cases. There was very good concordance in the diagnosis of associated findings (kappa index, 0.878 (95% CI, 0.775-0.980)), this analysis identifying differences in two cases. There is a high degree of concordance between 3D ultrasound and MRI in the diagnosis of uterine malformations, the relationship between cavity and fundus being visualized equally well with both techniques. 3D ultrasound should be complemented by

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

DEFF Research Database (Denmark)

László, Aranka; Endreffy, Emoke; Tümer, Zeynep

2010-01-01

Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue disturbances with microscopically kinky hair are the main symptoms. Molecular genetic mutation analysis was made at a Hungarian male infant suffering...... from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14......th gestational week. RESULTS: In the exon 12th a basic pair substitution with Arg 844 His change was detected leading to very severe fatal missense mutation....

Value of vaginal ultrasound in the diagnosis of postmenopausal metrorrhagia

International Nuclear Information System (INIS)

Morales, F.J.; Dualde, D.; Marinaro, A.

1998-01-01

The purpose of this study was to evaluate the utility of vaginal ultrasound (VU) in the diagnosis of the origin of postmenopausal metrorrhagia. Between January 1994 and May 1996, in collaboration with the Gynecology and Pathology Departments of our hospital, we carried out a prospective study of a total of 330 postmenopausal women referred to us with abnormal uterine bleeding. The patients ranged in age between 42 and 79 years (mean age.57.9 years). The period of amenorrhea had surpassed one year in every case (range: 1 and 34 years). The endometrial thickness was determined by vaginal ultrasound, using the Siemens Sonoline SL 400 model with a ultifrequency probe (5, 6 and 7.5 MHz). The measurement was taken along the longitudinal axis of the uterus at its thickest point, and thus included both the anterior and posterior layers (double layer). The ultrasound studies were assessed by two radiologists. To establish the definitive diagnosis, the patients were subsequently subjected to hysteroscopy with or without guided biopsy or to curettage with biopsy within a maximum period of 2 to 3 weeks. Two hundred of the 330 women in the initial series were included in the study. The most common diagnosis was endometrial atrophy (49%); 88.5% of the patients presented and endometrial thickness of less than 5 mm. There was only one case of endometrial cancer in which the thickness of the endometrial was 6 mm and another in which it was 4 mm, but in no cases of cancer did it measure less. In our series of 200 valid cases, the most effective criteria to rule out the presence of a significant alteration was to consider 6 mm as the cutoff point for normal endometrial thickness. This approach had a sensitivity of 95% a specificity of 84% and a diagnostic safety of 90%. (Author) 16 refs. (Author) 16 refs

The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

Directory of Open Access Journals (Sweden)

Hyun Ho Han

2016-03-01

Full Text Available BackgroundThe prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center.MethodsThe multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation.ResultsThe abortion rate was 28% (3/11. The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91% reported that they were satisfied with the multidisciplinary management in our center.ConclusionsAlthough a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

A muscle ultrasound score in the diagnosis of amyotrophic lateral sclerosis.

Science.gov (United States)

Tsuji, Yukiko; Noto, Yu-Ichi; Shiga, Kensuke; Teramukai, Satoshi; Nakagawa, Masanori; Mizuno, Toshiki

2017-06-01

The aims of this study are to elucidate the frequencies and distribution of fasciculations using muscle ultrasound in patients with amyotrophic lateral sclerosis (ALS) and those with other conditions mimicking ALS, and subsequently to develop a novel fasciculation score for the diagnosis of ALS. Ultrasound of 21 muscles was performed to detect fasciculations in 36 consecutive patients suspected of having ALS. We developed a fasciculation ultrasound score that indicated the number of muscles with fasciculations in statistically selected muscles. A total of 525 muscles in 25 ALS patients and 231 in 11 non-ALS patients were analysed. Using relative operating characteristic and multivariate logistic regression analysis, we selected the trapezius, deltoid, biceps brachii, abductor pollicis brevis, abdominal, vastus lateralis, vastus medialis, biceps femoris, and gastrocnemius muscles for the fasciculation ultrasound score. The mean scores were higher in the ALS group than those in the non-ALS group (5.3±0.5vs. 0.3±0.7) (mean±SD); pdifferentiating ALS patients from non-ALS patients. The fasciculation ultrasound score can be a simple and useful diagnostic marker of ALS. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

Accuracy of doppler ultrasound in diagnosis of endometrial carcinoma

International Nuclear Information System (INIS)

Batool, S.; Raza, S.; Manzur, S.

2013-01-01

Objective: To determine the accuracy of Doppler ultrasound in the diagnosis of endometrial carcinoma in patients presenting with post-menopausal bleeding while taking histopathological findings as the gold standard. Methods: The cross-sectional study was done at the Department of Radiology, Bahawal Victoria Hospital, Bahawalpur, from April 1 to September 30, 2009, and comprised 128 patients above 50 years of age having history of post-menopausal bleeding and who were referred to the department. Name, age and hospital registration number were recorded on a proforma. Doppler ultrasound was performed and endometrial thickness and uterine artery resistive index were recorded on transabdominal ultrasonography. Patients with endometrial thickness of more than 5mm and uterine artery resistive index of less than 0.7 were considered to be having endometrial carcinoma. Histopathology findings were also recorded using the hospital registration number of the patient. The findings of Doppler ultrasound scan were validated with the findings of histopathology. Results: Of the 128 patients, 48 (37.5%) were between the ages of 51 and 55 years; 46 (35.93%) were in the 56-60 age group; and 34 (26.57%) were over 65 years. On the basis of Doppler ultrasound findings, 106 (82.8%) patients were diagnosed as having endometrial carcinoma, while 22 (17.19%) were declared negative. Ultrasonography results were compared with histopathology findings. The percentages of true positive, true negative, false positive and false negative were calculated. There were 103 (80.47%) true positive; 12 (9.37%) false positive; 10 (7.81%) true negative; and 3 (2.35%) false negative. Specificity, sensitivity, positive predictive value and negative predictive value were found to be 97.16%, 76%, 89.56% and 76.92% respectively. Conclusion: The use of Doppler ultrasonography in non-invasive diagnosis of endometrial carcinoma in patients presenting with post-menopausal bleeding was quite useful with good

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

Science.gov (United States)

Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

Prenatal diagnosis and prevention of toxoplasmosis in pregnant women in Northern Vietnam: study protocol.

Science.gov (United States)

Smit, G Suzanne A; Vu, Thi Lam Binh; Do, Trung Dung; Speybroeck, Niko; Devleesschauwer, Brecht; Padalko, Elizaveta; Roets, Ellen; Dorny, Pierre

2017-05-25

In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis. The protocol was developed in a way that it could potentially evolve into a countrywide prenatal diagnosis and prevention program, with the main focus on primary prevention. The collaborating gynaecologists will invite eligible pregnant women attending antenatal care for the first time to participate in the study. At first consult, information about toxoplasmosis and its prevention will be provided. All participants will be asked to fill in a questionnaire, which is designed to analyse socio-demographic and biologically plausible risk factors associated with toxoplasmosis, and blood samples will be collected to determine the seroprevalence of toxoplasmosis in pregnant women. In case there is suspicion of a primary infection during pregnancy, the concerned women will be followed-up by the gynaecologists according to a predefined protocol. Every participant will be informed on her serological status, risk factors and prevention measures and is offered appropriate medical information and medical follow-up if required. The hypothesis is that congenital toxoplasmosis is an important but currently under-diagnosed public health problem in Vietnam. This study can strengthen sustainable control of toxoplasmosis in Vietnam, provide a protocol for prenatal diagnosis, boost overall awareness, improve the knowledge about toxoplasmosis prevention and can be essential for evidence-based health policy.

Prenatal diagnosis and treatment perspective of fetal hypothyroidism with goiter

International Nuclear Information System (INIS)

Gulraze, A.; Kurdi, W.; Tulbah, M.; Niaz, F.A.

2013-01-01

We describe two cases of fetal goiter in women with no history of thyroid disease. Diagnosis of fetal goiter during antenatal care was made by ultrasound and MRI. Congenital hypothyroidism was confirmed by fetal blood sampling that was treated with weekly intra-amniotic injections of L-thyroxin. One fetus was initially treated with four weekly intra-amniotic injections of 200 mu gms of L-thyroxin, later increased to 400 mu gms. The other fetus was treated with only three weekly intraamniotic injections of 400 mu gms of L-thyroxin. Therapeutic response was monitored by repeated ultrasound and MRI along with fetal blood sampling. At birth, none of the babies had goiter and were put on oral thyroxin. Post-natal studies were suggestive of congenital hypothyroidism due to dyshormogenesis. No abnormality was detected at follow-up. These cases highlight the role of intra-amniotic thyroxine in management of fetal hypothyroidism with goiter. (author)

Plunging ranulas: high-resolution ultrasound for diagnosis and surgical management

International Nuclear Information System (INIS)

Jain, Prabha; Jain, Ravi; Morton, Randall P.; Ahmad, Zahoor

2010-01-01

We see a high incidence of plunging ranulas, particularly in Maori and Polynesian populations. We have investigated the usefulness of ultrasound in the diagnosis and management of plunging ranulas and present our findings. Thirty-three new cases were examined over 4 years (June 2004 to October 2008). High-resolution ultrasound was very successful in determining the extent of the plunging ranula, confirming the cystic nature of the lesion, assessing the status of the mylohyoid muscle (a defect demonstrated in 100% of our cases) and evaluating the sublingual gland for rupture or herniation. Correlation with surgical findings was available for 30 cases. There was excellent ultrasonographic and surgical correlation, particularly with respect to submandibular space cystic collection (29 of 30 cases, 96.7%) and mylohyoid defects (27 of 30 cases, 90%). With the considerations of cost, accessibility and the fact that many of our patients are young (median of 20 years), ultrasound is recommended as the preferred examination for plunging ranula. (orig.)

Plunging ranulas: high-resolution ultrasound for diagnosis and surgical management

Energy Technology Data Exchange (ETDEWEB)

Jain, Prabha [Middlemore Hospital, Counties Manakau, Department of Radiology, P.O. Box 93311, Otahuhu, Auckland (New Zealand); Jain, Ravi [Waikato Hospital, Department of Plastic Surgery, Hamilton (New Zealand); Morton, Randall P.; Ahmad, Zahoor [Middlemore Hospital, Counties Manakau, Department of ENT Surgery, P.O. Box 93311, Otahuhu, Auckland (New Zealand)

2010-06-15

We see a high incidence of plunging ranulas, particularly in Maori and Polynesian populations. We have investigated the usefulness of ultrasound in the diagnosis and management of plunging ranulas and present our findings. Thirty-three new cases were examined over 4 years (June 2004 to October 2008). High-resolution ultrasound was very successful in determining the extent of the plunging ranula, confirming the cystic nature of the lesion, assessing the status of the mylohyoid muscle (a defect demonstrated in 100% of our cases) and evaluating the sublingual gland for rupture or herniation. Correlation with surgical findings was available for 30 cases. There was excellent ultrasonographic and surgical correlation, particularly with respect to submandibular space cystic collection (29 of 30 cases, 96.7%) and mylohyoid defects (27 of 30 cases, 90%). With the considerations of cost, accessibility and the fact that many of our patients are young (median of 20 years), ultrasound is recommended as the preferred examination for plunging ranula. (orig.)

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

DEFF Research Database (Denmark)

Therkelsen, A J; Jensen, P K; Hertz, Jens Michael

1988-01-01

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

Terminating pregnancy after prenatal diagnosis--with a little help of professional ethics?

Science.gov (United States)

Schmitz, Dagmar

2012-07-01

Termination of pregnancy after a certain gestational age and following prenatal diagnosis, in many nations seem to be granted with a special status to the extent that they by law have to be discussed within a predominantly medical context and have physicians as third parties involved in the decision-making process ('indication-based' approach). The existing legal frameworks for indication-based approaches, however, do frequently fail to provide clear guidance for the involved physicians. Critics, therefore, asked for professional ethics and professional institutions in order to provide normative guidance for the physicians in termination of pregnancy on medical grounds. After outlining the clinical pathway in an indication-based approach and the involved types of (clinical) judgements, this paper draws upon different understandings of professional ethics in order to explore their potential to provide normative guidance in termination of pregnancy on medical grounds. The analysis reveals that professional ethics will not suffice-neither as a set of established norms nor as internal morality-in order to determine the normative framework of indication-based approaches on termination of pregnancy. In addition, there seem to be considerable inconsistencies regarding the target and outcome between prenatal testing on the one hand and following termination of pregnancy on the other hand. A source of morality external to medicine has to be the basis of evaluation if a consistent and workable normative framework for termination of pregnancy and prenatal testing should be established.

Prenatal Diagnosis of Persistent Left Superior Vena Cava and its Clinical Significance

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Aytül Çorbacıoğlu Esmer

2014-03-01

Full Text Available Background: Persistent left superior vena cava (PLSVC is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. Aims: To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. Study Design: Retrospective comparative study. Methods: The data of patients with a prenatal diagnosis of PLSVC between May 2008 and January 2013 were reviewed retrospectively. Results: Data of 31 cases were reviewed. Fifteen (48.4% cases were associated with cardiac defects and 17 (54.8% cases had associated extracardiac sonographic or postpartum findings. Two fetuses had karyotype anomalies. Outcome was significantly more favorable in cases not associated with cardiac defects in comparison to those associated with cardiac anomalies (84.6% vs. 33.3%, p=0.009. All cases with isolated PLSVC survived, while among the cases associated with extracardiac anomalies, with cardiac anomalies and with both extracardiac and cardiac anomalies, the survival rate was 75%, 50% and 22.2%, respectively. The most frequent group of cardiac anomalies associated with PLSVC was septal defects and VSD was the most common heart defect individually, being observed in nine fetuses. Conclusion: Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. Outcome is significantly worse if PLSVC is associated with a cardiac defect, and the prognosis is excellent in isolated cases.

Differential diagnosis between benign and malignant soft tissue tumors utilizing ultrasound parameters.

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Morii, Takeshi; Kishino, Tomonori; Shimamori, Naoko; Motohashi, Mitsue; Ohnishi, Hiroaki; Honya, Keita; Aoyagi, Takayuki; Tajima, Takashi; Ichimura, Shoichi

2018-01-01

Preoperative discrimination between benign and malignant soft tissue tumors is critical for the prevention of excess application of magnetic resonance imaging and biopsy as well as unplanned resection. Although ultrasound, including power Doppler imaging, is an easy, noninvasive, and cost-effective modality for screening soft tissue tumors, few studies have investigated reliable discrimination between benign and malignant soft tissue tumors. To establish a modality for discrimination between benign and malignant soft tissue tumors using ultrasound, we extracted the significant risk factors for malignancy based on ultrasound information from 40 malignant and 56 benign pathologically diagnosed soft tissue tumors and established a scoring system based on these risk factors. The maximum size, tumor margin, and vascularity evaluated using ultrasound were extracted as significant risk factors. Using the odds ratio from a multivariate regression model, a scoring system was established. Receiver operating characteristic analyses revealed a high area under the curve value (0.85), confirming the accuracy of the scoring system. Ultrasound is a useful modality for establishing the differential diagnosis between benign and malignant soft tissue tumors.

Hidronefrosis prenatal en doble sistema excretor Prenatal hydronephrosis in double excretory system

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Sandalio Durán Álvarez

2007-12-01

hydronephrosis were studied. The maternofetal ultrasound showed a double excretory system. To this end, all the newborns and infants with prenatally detected hydronephrosis and double excretory system diagnosed before or after birth were followed up by evolutive renal ultrasonography, micturition urethrocystography, static or dynamic scintigraphy and, in some cases, by excretory urogram. Double excretory system was found in 7 of the 182 patients (3.8 % with abnormalities of the urinary tract diagnosed before birth. Diagnosis was prenatal in just one of the fetuses (31 weeks of pregnancy. Hydronephrotic dilatation was mild in two fetuses and severe in five. Hydronephrosis had different causes. Upper polar nephrectomy was performed in those cases of ureteral ectopy and obstructed upper ureter, reimplantation in one ureterocele, whereas in another it was confirmed the spontaneous rupture by endoscopy. The rest of the patients were symptomatically treated. The hydronephrosis detected before birth by maternofetal ultrasonography may be associated with a double excretory system. Hydronephrotic dilatation associated with a double excretory system may have different causes, and it is necessary to study carefully and systematically these children and to treat them adequately, since each of them may need a different conduct.

Comparison of barium swallow and ultrasound in diagnosis of gastro-oesophageal reflux in children.

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Naik, D R; Bolia, A; Moore, D J

1985-01-01

Fifty one infants and older children with suspected gastro-oesophageal reflux entered a study comparing the diagnostic accuracy of a standard barium swallow examination with that of ultrasound scanning. All children were examined by both techniques. In 40 cases there was unequivocal agreement between the examinations. Of the remaining patients, four had definite reflux by ultrasonic criteria but showed no evidence of reflux on barium swallow examination, four had positive findings on ultrasound but showed only minimal reflux on barium swallow, and one showed minimal reflux on ultrasound but had a negative barium meal result. In two children the ultrasound study was inconclusive. Ultrasound has an important role in the diagnosis and follow up of patients under the age of 5 years with gastro-oesophageal reflux. Images FIG 1 FIG 2 PMID:3924317

Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

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Sylvie Viaux-Savelon

Full Text Available In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction.Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction.False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.

Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians' roles during and after prenatal diagnosis.

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Eldahdah, Lama T; Ormond, Kelly E; Nassar, Anwar H; Khalil, Tayma; Zahed, Laila F

2007-06-01

To better understand obstetrician experiences in Lebanon when disclosing abnormal amniocentesis results. Structured interviews with 38 obstetricians identified as caregivers from the American University of Beirut Medical Center Cytogenetics Laboratory database of patients with abnormal amniocentesis results between 1999 and 2005. Obstetricians were primarily male, Christian, and with an average of 14 years of experience. They reported doing most pre-amniocentesis counseling, including discussion of risk for common autosomal aneuplodies (95%), and procedure-related risk (95%). Obstetricians reported that 80% of patients at risk for aneuploidy underwent amniocentesis. The study population reported on 143 abnormal test results (124 autosomal abnormalities). When disclosing results, obstetricians reportedly discussed primarily physical and cognitive features of the diagnosis. They varied in levels of directiveness and comfort in providing information. Our records showed that 59% of pregnancies with sex chromosome abnormalities were terminated compared to 90% of those with autosomal aneuploidies; various reasons were proposed by obstetricians. This study is among the few to assess prenatal diagnosis practices in the Middle East, with a focus on the role of the obstetrician. Given the influence of culture and social norms on prenatal decision-making, it remains important to understand the various impacts on clinical practice in many nations. (c) 2007 John Wiley & Sons, Ltd.

Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

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Enrique García López

2009-12-01

Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

Prenatal diagnosis of Cantrell's pentalogy with conventional and three-dimensional sonography.

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León, G; Chedraui, P; San Miguel, G

2002-09-01

Omphaloceles and gastroschisis are the most common defects of the fetal anterior abdominal wall. The association of an omphalocele with an anterior thoracic wall defect could result from a variety of congenital syndromes of which Cantrell's pentalogy is the most common. For proper surgical scheduling of the neonate, early diagnosis of each of the components of this syndrome is important. The presence of a congenital intracardiac anomaly is the best predictor of neonatal mortality. We present a case of Cantrell's pentalogy diagnosed prenatally with conventional and three-dimensional sonographic imaging, and confirmed at birth. We discuss this case and the reports in the world literature.

The diagnosis value of color doppler ultrasound in evaluating small renal carcinoma

International Nuclear Information System (INIS)

Chen Gaiyi

2009-01-01

Objective: To characterize the ultrasound and color doppler imaging of small renal carcinoma. Methods: Ultrasound and color doppler images by convex-probe and high frequency-probe of 24 patients with renal carcinoma confirmed by surgery and histology were analyzed retrospectively. Tumor echo, halo, internal blood flow and peripheral tumor blood flow were observed. Results: Tumor echo in 9 lesions was hyper-echo, in 4 was iso-echoic, in 10 was hypo-echo, and in 1 was echoless. Halo was detected in 9 tumors, and small cyst was detected in 5 tumors. By using the convex-probe, peripheral and internal blood flow signal in 24 tumors were observed. Spot blood follow was detected in 6 tumors, half-circularity blood follow in 18 tumors and no circularity blood follow. Detection rate of internal blood flow was 20.83%. By using the high frequency-probe in 21 tumors, spot blood was detected in 1 tumor, half-circularity blood follow in 14 tumors, circularity blood follow in 6 tumors. Detection rate of internal blood flow was 90.48%. It was not satisfied for high frequency-probe in 3 patients because of obesity. Accordance of the diagnosis by high frequency-probe ultrasound was 90.48% and 91.67% by CT (P > 0.05). Conclusion: Detection of renal carcinoma is sensitive by ultrasound. The high frequency-probe is significant sensitive to detect blood follow in renal carcinoma and is helpful to correct diagnosis of renal carcinoma. (authors)

A Computer-Aided Diagnosis System Using Artificial Intelligence for the Diagnosis and Characterization of Thyroid Nodules on Ultrasound: Initial Clinical Assessment.

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Choi, Young Jun; Baek, Jung Hwan; Park, Hye Sun; Shim, Woo Hyun; Kim, Tae Yong; Shong, Young Kee; Lee, Jeong Hyun

2017-04-01

An initial clinical assessment is described of a new, commercially available, computer-aided diagnosis (CAD) system using artificial intelligence (AI) for thyroid ultrasound, and its performance is evaluated in the diagnosis of malignant thyroid nodules and categorization of nodule characteristics. Patients with thyroid nodules with decisive diagnosis, whether benign or malignant, were consecutively enrolled from November 2015 to February 2016. An experienced radiologist reviewed the ultrasound image characteristics of the thyroid nodules, while another radiologist assessed the same thyroid nodules using the CAD system, providing ultrasound characteristics and a diagnosis of whether nodules were benign or malignant. The diagnostic performance and agreement of US characteristics between the experienced radiologist and the CAD system were compared. In total, 102 thyroid nodules from 89 patients were included; 59 (57.8%) were benign and 43 (42.2%) were malignant. The CAD system showed a similar sensitivity as the experienced radiologist (90.7% vs. 88.4%, p > 0.99), but a lower specificity and a lower area under the receiver operating characteristic (AUROC) curve (specificity: 74.6% vs. 94.9%, p = 0.002; AUROC: 0.83 vs. 0.92, p = 0.021). Classifications of the ultrasound characteristics (composition, orientation, echogenicity, and spongiform) between radiologist and CAD system were in substantial agreement (κ = 0.659, 0.740, 0.733, and 0.658, respectively), while the margin showed a fair agreement (κ = 0.239). The sensitivity of the CAD system using AI for malignant thyroid nodules was as good as that of the experienced radiologist, while specificity and accuracy were lower than those of the experienced radiologist. The CAD system showed an acceptable agreement with the experienced radiologist for characterization of thyroid nodules.

Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

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Florence M Momplaisir

Full Text Available HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART use during pregnancy and HIV suppression at delivery is required.We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery.Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61 and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00 than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11 and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47 than those with adequate prenatal care.Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

Science.gov (United States)

Momplaisir, Florence M; Brady, Kathleen A; Fekete, Thomas; Thompson, Dana R; Diez Roux, Ana; Yehia, Baligh R

2015-01-01

HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART) use during pregnancy and HIV suppression at delivery is required. We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use) and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery. Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61) and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00) than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11) and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47) than those with adequate prenatal care. Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

Posterior fossa malformations: main features and limits in prenatal diagnosis

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Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

2010-06-15

Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

Biliary ascariasis: the value of ultrasound in the diagnosis and management

International Nuclear Information System (INIS)

Al-Absi, Mohammad; Qais, A.M.; Al-Katta, Mohammad; Gafour, M.; Al-Wadan, Ali Hamoud

2007-01-01

Conventional methods of radiographic examination are often unsatisfactory for identifying worms in the biliary tract. Ultrasonography is a non-invasive, quick and safe procedure known to have diagnostic accuracy. We studied the ultrasonographic appearance of biliary ascariasis and the role of ultrasonography in diagnosis and management. In a prospective 5-year study, a sonogarphic diagnosis of biliary ascariasis was made on 46 Yemeni patients. The diagnosis was based mainly on sonographic appearences supported by clinical and laboratory results and proved by outcome of either surgical or medical management or spontaneous exit of worms. Follow-up ultrasound was performed, for all patients, to confirm the diagnosis and to monitor the management. Parasites were present in the dilated main bile duct in 23 patients, in the gallbladder in 12 patients, in the intrahepatic ducts in 6 patients, in the main pancreatic duct in 4 patients and as an intrahepatic abscess in one patient. The characteristic appearance of Ascaris lumbricoides was a single or multiple echogenic non-shadowing linear or curved strips with or without echoic tubular central lines that represent the digestive tracts of the worm. A spaghetti-like appearance was seen in 9 patients and amorphous fragments were seen in 2 patients. Sixteen patients underwent surgery, 20 patients were treated medically (including spontaneous exit of the worm in 7 patients without treatment) and in 10 patients worms were extracted by endoscopic retrograde cholangiopancreatography. Follow-up ultrasound was found to be effective in confirming the diagnosis and monitoring management. (author)

Prenatal diagnosis and management of fetal goiter caused by maternal Grave's disease.

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Hadi, H A; Strickland, D

1995-07-01

We present a case of maternal Grave's disease associated with fetal goitrous hyperthyroidism. Fetal goiter was diagnosed by ultrasound and diagnosis of fetal hyperthyroidism was established by umbilical blood sampling. Fetus was successfully treated by increasing maternal propylthiouracil dosage. Fetal thyroid status was normal at birth. Role of sonography and umbilical blood sampling in management of fetal goiter complicated with maternal Grave's disease is discussed.

Prospective study of ultrasound with perflutrene contrast compared to magnetic resonance imaging in the diagnosis of hepatic hemangiomas

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Joel Schmillevitch

2011-06-01

Full Text Available CONTEXT:The incidence of hepatic hemangiomas ranges from 0.4% to 20% in the general population. Conventional ultrasound is usually the first diagnostic method to identify these hemangiomas, typically as an incidental finding. Ultrasonography with second generation contrast materials is being used in various areas of hepatology, yielding similar results to those obtained with computerized tomography and magnetic resonance imaging in the diagnosis of hepatic hemangiomas. OBJECTIVE: To evaluate the agreement between ultrasound with perflutrene contrast and magnetic resonance imaging in the diagnosis of hepatic hemangiomas. METHODS: A total of 37 patients were prospectively examined between January 2006 and August 2008. A total of 57 hepatic nodules were documented in this group as incidental findings on routine ultrasound exams. The 37 patients were administered perflutrene contrast without adverse reactions, and were all submitted to magnetic resonance exams. RESULTS: Conventional ultrasound identified 15 patients with nodules typical of hemangiomas and 22 patients with other nodules. In 35 patients, the contrast characteristics were consistent with hepatic hemangiomas. CONCLUSION: Agreement between the data obtained from ultrasound with contrast and magnetic resonance was 94.5%. In discordant cases, the magnetic resonance diagnosis prevailed. In the case which presented indeterminate findings on contrast ultrasonography, magnetic resonance was repeated after 3 months, confirming the diagnosis of a hepatic hemangioma. A biopsy was performed on the suspected malignant nodule which also confirmed the presence of a hepatic hemangioma. Ultrasonography with contrast has the advantages of being more accessible to the public at large and lower cost than magnetic resonance. The results of our study highlight the need for a new protocol in hepatic nodules incidentally identified on conventional ultrasonography. In the case of typical hemangiomas

Ovarian cysts on prenatal MRI

International Nuclear Information System (INIS)

Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schöpf, Veronika; Graham, John M.; Rimoin, David L.; Weber, Michael; Prayer, Daniela

2012-01-01

Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23–37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

Ovarian cysts on prenatal MRI

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Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

2012-08-15

Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

[Placenta accreta: can prenatal diagnosis be performed? Ultrasound and MRI interests. About 27 cases].

Science.gov (United States)

Bauwens, J; Coulon, C; Azaïs, H; Bigot, J; Houfflin-Debarge, V

2014-05-01

To list ultrasonography signs identified when a placenta accreta is suspected. Secondary objectives are to analyze the relevance of diagnosis with ultrasonography and magnetic resonance imaging, and to know diagnosis circumstances in order to identify main risk factors. We present a monocentric retrospective study. All the cases of placentas accreta, observed from 2005 to 2010 at Lille University Hospital (France), have been included. Twenty-seven patients had a placenta accreta during this period. There was an antenatal suspicion for 22 cases and 21 were confirmed after delivery. Six cases were discovered per-partum. Diagnosis was suspected after metrorrhagia for 41% of women. In case of antenatal diagnosis, 100% of the patients had an anterior placenta praevia and an uterine scare. Fifty percent of the placentas accreta diagnosed per-partum were posterior. The most frequently ultrasonography signs are "intra-placental lacuna" (85.7%), "abnormal vascularization" (71.4%), "loss of normal hypoechoic retroplacental myometrial zone" (66.7%), "irregularity of the vesical wall" (66.7%). Sensibility of ultrasonography screening is 78%. Twenty-one magnetic resonance imaging examinations executed secondarily confirmed the diagnosis in 66.7% of the cases. Ultrasonography is a relevant exam for the diagnosis of placenta accreta. Posterior placenta should not be forsaken. Anterior placenta praevia in multiparous patients with a uterine scare should be a warning. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

[Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome].

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Guo, Yi-bin; Ai, Yang; Zhao, Yan; Tang, Jia; Jiang, Wei-ying; Du, Min-lian; Ma, Hua-mei; Zhong, Yan-fang

2012-04-01

To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome. Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing. DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls. Amplification of ARMS specific primers derived a specific product for the fetus's gene, whilst no similar product was detected in normal controls. Sequencing of PCR products confirmed that exons 1 and 10 of the GALNS gene from the fetus contained a heterozygous paternal c.106-111 del (p.L36-L37 del) deletion and a heterozygous maternal c.1097 T>C (p.L366P) missense mutation, which resulted in a compound heterozygote status. The fetus was diagnosed with Morquio A syndrome and a genotype similar to the proband. Termination of the pregnancy was recommended. Combined ARMS, DHPLC and DNA sequencing are effective for rapid and accurate prenatal diagnosis for fetus with a high risk for Morquio A syndrome. Such methods are particularly suitable for early diagnosis when pathogenesis is clear. Furthermore, combined ARMS and DHPLC are suitable for rapid processing of large numbers of samples for the identification of new mutations.

Pre- and postnatal ultrasound and MRI imaging of the obstructive uropathies

International Nuclear Information System (INIS)

Balev, B.; Bliznakova, D.; Popova, R.; Baleva, D.

2013-01-01

Full text: Introduction: Hydronephrosis is the most common congenital pathology that is detected on prenatal ultrasound. Prenatal established unilateral or bilateral hydronephrosis is an increased risk for postnatal pathology, such as the severity of the disease is directly related to the degree of retention antenatal. The most used method to detect the hydronephrosis is the measurement of front - back size of the basin of the fetus. What you will learn: The need to actively seek for prenatal retention due to the high frequency of anomalies; To distinguish degrees of fetal hydronephrosis in different periods of prenatal development; Algorithm for behavior in case of hydronephrosis detection - frequency of the control ultrasound examination and consultation with pediatric nephrologist; Indications for use of a supplementary method - pre-and postnatal MRI and MR urography. Discussion: The degree of retention is mild, moderate and severe, depending on the size of the pelvis during different periods of pregnancy. Postnatal pathology is established at 11% in fetuses with mild hydronephrosis in 45% medium and 88% with severe hydronephrosis. The condition is subject to monitoring during pregnancy, in the first month after birth, and by the end of the first year. MRI is established as a specifying alternate method as pre- and postnatally in severe hydronephrosis and suspecting for concomitant pathology. We present our results of prenatal ultrasound and MRI as well as postnatal follow-up of children with hydronephrosis. Conclusion: The results of imaging studies directly influence on the appropriate therapeutic approach. MRI study of the urogenital system is an addition of ultrasound in prenatal periods and an alternative to contrast x-ray after the birth. The objective is to preserve the renal function and to prevent the urinary tract infections later in life by antibiotic prophylaxis

[Contrastive study on conventional ultrasound, compression elastography and acoustic radiation force impulse imaging in the differential diagnosis of benign and malignant breast tumors].

Science.gov (United States)

Zhang, Lu; Zhou, Ping; Deng, Jin; Tian, Shuangming; Qian, Ying; Wu, Xiaomin; Ma, Shuhua; Li, Jiale

2014-12-01

To evaluate the diagnostic performance of conventional ultrasound, compression elastography (CE) and acoustic radiation force impulse imaging (ARFI) in differential diagnosis of benign and malignant breast tumors. A total of 98 patients with liver lesions were included in the study. The images of conventional ultrasound, CE and the values of virtual touch tissue quantification (VTQ) of breast lesions were obtained. The diagnostic performance of conventional ultrasound, CE and ARFI were assessed by using pathology as the gold standard, and then evaluate the diagnosis efficiency of these three approaches in differential diagnosing benign and malignant breast tumors. The specificity, sensitivity and accuracy in the diagnosis of malignant breast tumors for conventional ultrasound were 80.0%, 81.1% and 81.7%, respectively, whereas for CE elastic score were 85.7%, 86.7% and 86.3%, respectively. With a cutoff value of 3.71 for the SR, the sensitivity, specificity, accuracy in diagnosis of malignant breast tumors were 97.1%, 83.3% and 88.4%, respectively. With a cutoff value of 3.78 m/s for VTQ, the sensitivity, specificity, accuracy in diagnosis of malignant breast tumors were 94.3%, 91.7% and 92.6%, respectively. The difference in diagnosis efficiency among ARFI, CE and conventional ultrasound in differential diagnosis of benign and malignant breast tumors was significant (Pbenign and malignant breast tumors. But the diagnosis efficiency of ARFI is superior to CE and conventional ultrasound. The three approaches can help each other in differential diagnosis of benign and malignant breast tumors.

Hypertrophic pyloric stenosis: tips and tricks for ultrasound diagnosis

OpenAIRE

Costa Dias, Sílvia; Swinson, Sophie; Torrão, Helena; Gonçalves, Lígia; Kurochka, Svitlana; Vaz, Carlos Pina; Mendes, Vasco

2012-01-01

We describe a systematic approach to the ultrasound (US) examination of the antropyloric region in children. US is the modality of choice for the diagnosis of hypertrophic pyloric stenosis (HPS). The imaging features of the normal pylorus and the diagnostic findings in HPS are reviewed and illustrated in this pictorial essay. Common difficulties in performing the examination and tips to help overcome them will also be discussed. Main Messages • Hypertrophic Pyloric Stenosis is defined by thic...

Ultrasound Diagnosis of Bilateral Quadriceps Tendon Rupture After Statin Use

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Nesselroade, Ryan D

2010-09-01

Full Text Available Simultaneous bilateral quadriceps tendon rupture is a rare injury. We report the case of bilateral quadriceps tendon rupture sustained with minimal force while refereeing a football game. The injury was suspected to be associated with statin use as the patient had no other identifiable risk factors.The diagnosis was confirmed using bedside ultrasound. [West J Emerg Med. 2010; 11(4:306-309.

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

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Talebi, Farah; Ghanbari Mardasi, Farideh; Mohammadi Asl, Javad; Lashgari, Ali; Farhadi, Freidoon

2018-07-01

Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis. Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out prenatal diagnosis by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Copyright© by Royan Institute. All rights reserved.

Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage Syndrome by the assay of radioresistant DNA synthesis

International Nuclear Information System (INIS)

Kleijer, W.J.; Kraan, M. van der; Los, F.J.; Jaspers, N.G.J.

1994-01-01

Prenatal diagnosis was performed in 16 pregnancies at risk of ataxia-telangiectasia (A-T) or Nijmegen Breakage Syndrome (NBS). Radioresistant DNA synthesis (RDS) was investigated in cultured chorionic villus (CV) cells and/or amniotic fluid (AF) cells. In four pregnancies, an affected foetus was diagnosed with increased RDS in cultured CV cells. In three of the four cases confirmation of the diagnosis was obtained by analysis of AF cells and/or skin fibroblasts from the foetus cultured after termination of the pregnancy; in the fourth case a fibroblast culture from the aborted foetus failed. In one case, only AF cells could be analysed in a late stage of pregnancy; pregnancy was terminated due to intermediate/equivocal results but the foetus fibroblasts showed normal RDS. Normal RDS was demonstrated in the other 11 pregnancies at 25% risk either by analysis of CB cells (nine cases) or of AF cells (two cases). In some cases the (normal) results on the CV cells were corroborated by subsequent analysis of Af cells. The results suggest that RDS analysis of CV cells allows reliable prenatal diagnosis of A-T/NBS. However, amniocentesis may be necessary to confirm normal results on CV cells if the foetus is female (because of the risk of maternal cell contamination) or in the rare case of equivocal results. (author)

Focused cardiac ultrasound is feasible in the general practice setting and alters diagnosis and management of cardiac disease

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James Yates

2016-08-01

Full Text Available Background: Ultrasound-assisted examination of the cardiovascular system with focused cardiac ultrasound by the treating physician is non-invasive and changes diagnosis and management of patient’s with suspected cardiac disease. This has not been reported in a general practice setting. Aim: To determine whether focused cardiac ultrasound performed on patients aged over 50 years changes the diagnosis and management of cardiac disease by a general practitioner. Design and setting: A prospective observational study of 80 patients aged over 50 years and who had not received echocardiography or chest CT within 12 months presenting to a general practice. Method: Clinical assessment and management of significant cardiac disorders in patients presenting to general practitioners were recorded before and after focused cardiac ultrasound. Echocardiography was performed by a medical student with sufficient training, which was verified by an expert. Differences in diagnosis and management between conventional and ultrasound-assisted assessment were recorded. Results and conclusion: Echocardiography and interpretation were acceptable in all patients. Significant cardiac disease was detected in 16 (20% patients, including aortic stenosis in 9 (11% and cardiac failure in 7 (9%, which were missed by clinical examination in 10 (62.5% of these patients. Changes in management occurred in 12 patients (15% overall and 75% of those found to have significant cardiac disease including referral for diagnostic echocardiography in 8 (10%, commencement of heart failure treatment in 3 (4% and referral to a cardiologist in 1 patient (1%. Routine focused cardiac ultrasound is feasible and frequently alters the diagnosis and management of cardiac disease in patients aged over 50 years presenting to a general practice.

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

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Hill, Melissa; Twiss, Philip; Verhoef, Talitha I; Drury, Suzanne; McKay, Fiona; Mason, Sarah; Jenkins, Lucy; Morris, Stephen; Chitty, Lyn S

2015-10-01

We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data from a study exploring views on NIPD for CF, total test-related costs were estimated for the current care pathway and compared with those incorporating NIPD. The assay reliably predicted mutation status in all control and maternal plasma samples. Of carrier or affected adults with CF (n = 142) surveyed, only 43.5% reported willingness to have invasive testing for CF with 94.4% saying they would have NIPD. Using these potential uptake data, the incremental costs of NIPD over invasive testing per 100 pregnancies at risk of CF are £9025 for paternal mutation exclusion, and £26,510 for direct diagnosis. We have developed NIPD for risk stratification in around a third of CF families. There are economic implications due to potential increased test demand to inform postnatal management rather than to inform decisions around termination of an affected pregnancy. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

Pre-natal counselling and diagnosis in Down's syndrome.

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Papp, Z

1973-01-01

Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

Antenatal sonographic appearance of a large orbital encephalocele: a case report and differential diagnosis of orbital cystic mass.

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Ahmed, Ahmed; Noureldin, Rehab; Gendy, Mohamed; Sakr, Sharif; Abdel Naby, Mahmoud

2013-06-01

Orbital meningoceles and encephaloceles are rare extracranial extensions of the brain and meninges with or without direct communication between the central nervous system and the abnormal mass. We reported a rare case of large fetal orbital encephalocele; the diagnosis was suspected initially by prenatal ultrasound and confirmed by postnatal MRI and CT scans. The differential diagnosis of an intrauterine fetal cystic orbital mass includes orbital teratoma, epidermoid inclusion cysts, hemangioma or lymphangioma, congenital cystic eye, dacryocystocele, and orbital cephalocele. Copyright © 2012 Wiley Periodicals, Inc.

Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

DEFF Research Database (Denmark)

Hermann, NV; Hove, HD; Jørgensen, C

2009-01-01

A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...

Diagnosis of fetal congenital limb deformities by MRI

International Nuclear Information System (INIS)

Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Mao Jianping

2008-01-01

Objective: To explore the diagnostic value of MRI on fetal congenital limb deformities. Methods: Sixteen pregnant women, aged from 22 to 40 years (average 29 years) and with gestation from 22 to 39 weeks (average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies. Acquisitions consisted of coronal, sagittal, and axial slices relative to the fetal brain, spine, thorax, abdomen, especially limbs using 2D FIESTA sequences. Prenatal US and MR imaging findings were compared with postnatal diagnoses (4 fetuses) or autopsy (12 pregnant women, 13 fetuses). Postnatal evaluation included US, MR imaging, computed tomography, and physical examination. Results: Of the sixteen pregnant women (15 with a single fetus and 1 with twin fetuses), 17 fetuses were found. Those limb deformities of sixteen pregnant women included congenital both upper extremities amelia (1 case), sirenomelia sequence (1 case), micromelia (5 cases, 1 of which were twins), bilateral clenched hands (2 cases), right polydactyly (1 case), simple right ectrodactyly (1 case), right dactylolysis(1 case), simple club foot (2 cases), hydrocele spinalis with club foot (2 cases), 1 of the 2 cases with bilateral clinodactyly. In 14 of 16 cases, the diagnoses established by MR imaging were correct when compared with postnatal diagnosis, and prenatal MR diagnosis was inaccurate in 2 cases. Conclusion: Prenatal MRI is effective in the assessment of congenital limb deformities of fetuses, it can yield information additional to that obtained with US, and further correct US diagnosis. (authors)

Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Addor, Marie-Claude

2009-01-01

OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

The value of radiological and ultrasound examination in the prenatal diagnosis of the siren syndrome

International Nuclear Information System (INIS)

Fiegler, W.; Hunsdiek, F.W.

1980-01-01

A sirenomelia is described. In addition to the characteristic single lower extremity, there are also, as in all cases of sympodia, severe malformations in the urogenital system, intestine, pelvis and vertebral column. The various theories of genesis are discussed. Ultrasound can be used as a screening procedure in early detection of deformities. So it is possible to avoid an emergency sectio in cases, where a non-viable child is endangered by intrauterine asphyxia. (orig.) [de

Concordance between prenatal ultrasound and autopsy findings in a tertiary center.

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Rodriguez, M Angeles; Prats, Pilar; Rodríguez, Ignacio; Cusí, Victoria; Comas, Carmina

2014-08-01

The aim of this study was to evaluate the ultrasound (US)/autopsy concordance in elective termination of pregnancies (TOP) due to fetal causes. We performed a retrospective evaluation of elective TOP from 2004 to 2012. Inclusion criteria were gestational age at termination autopsy data. Based on the US-autopsy concordance, cases were divided into four groups: Group 1: agreement; Group 2: autopsy confirmed all US findings but provided additional information; Group 3: autopsy didn't confirm all US findings; Group 4: disagreement. One hundred and fifty-one patients fulfilled the inclusion criteria during the study period. Central nervous system malformations (91.5%), cardiovascular anomalies (90.2%) and renal system malformations (91.3%) were confirmed by autopsy. We found less concordance in the abdominal and musculoskeletal anomalies (61.5% and 66.7%, respectively). There were 130 (86%) fetuses in group 1, 7 in group 2 (4.6%), 3 in group 3 (1.9%) and 11 in group 4 (7.2%). In 5.29% of cases, the autopsy added relevant information to the diagnosis and counselling. Diagnosis concordance between US and necropsy is achieved in almost 90% of cases. An autopsy may help to adjust the diagnosis and help in counselling the parents for a future pregnancy. © 2014 John Wiley & Sons, Ltd.

Family structure and use of prenatal care

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Elisabete Alves

2015-06-01

Full Text Available This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04, an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02, and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively. The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

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Chih-Ping Chen

2006-01-01

Full Text Available Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC. TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI at 36 weeks' gestation showed cardiac rhab-domyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan to TGA (stop codon. The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

Ultrasonographic features of prenatal testicular torsion: Case report

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Elif Ağaçayak

2013-01-01

Full Text Available Although prenatal testicular torsion (PNTT is rarely observed,it is an important condition that can cause bilateralvanishing testis. Generally, PNTT cases observed asextravaginal torsion and treatment is emergency surgicalop-eration. In this article, 39 week presented a case diagnosedin the prenatal testicular torsion. PNTT diagnosiswas confirmed by Doppler ultrasonography and emergencysurgery was performed. Extravaginal left testiculartorsion gangrene and necrosis of the testis was observedin the operation. Left orchiectomy was performed andintrauter-ine ultrasonographic diagnosis was found to becorrect.Key words: Testicular torsion, prenatal diagnosis, features,ultrasonography

Renal Ultrasound in the Diagnosis of the Non-functioning Kidney

International Nuclear Information System (INIS)

Kang, Ik Won; Suh, Jeong Soo

1982-01-01

Renal ultrasound is independent of renal function and capable of renal imaging in impaired or dysplastic renal diseases. Authors reviewed renal ultrasonographic findings of 36 cases which showed non-visualization in intravenous pyelography from Feb. 1979 to Sep. 1982 at Seoul National university Hospital. The results are as follows: 1. Causes of non-visualization of the kidney in IVP were unilateral hydronephrosis(18 cases), renal tuberculosis(7), renal failure(6), renal agenesis(3), tumor(1),and pyonephrosis(1) 2. The sonographic findings were diagnostic in all the cases of unilateral hydronephrosis, renal agenesis and renal tumor. 3. The sonographic findings were not diagnostic but suggestive in more than half cases of renal tuberculosis. 4. Renal ultrasound was not helpful in the diagnosis of renal failure, but useful in delineation of renal size and shape

Application of ultrasound in the diagnosis of posterior vitreous detachment

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Hui-Wei Wang

2013-12-01

Full Text Available AIM: To investigate the utility of ultrasound in the diagnosis of posterior vitreous detachment(PVD. METHODS: From September 2011 to September 2012, 506 eyes of 305 cases(male 191, female 114of PVD patients in our hospital were checked and analyzed with ultrasound.RESULTS: Totally, 179 eyes were diagnosed as partial PVD, the proportion was 35.4%. And 327 eyes were diagnosed as complete PVD, the proportion was 64.6%. Among the 61 eyes(12.1%with a small amount of hemorrhage of vitreous humor,retinal breaks of 26 eyes(5.1%were founded. Given the photocoagulation nicely heal to the breaks and then recovered. CONCLUSION:Ultrasonography can accurately diagnose PVD. It has non-invasive,convenience, and other characteristics, and it is worthy of clinical popularization.

Role of endoscopic ultrasound in diagnosis and management of hepatocellular carcinoma

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Koduru P

2015-10-01

Full Text Available Pramoda Koduru,1 Rei Suzuki,2 Sundeep Lakhtakia,3 Mohan Ramchandani,3 Dadang Makmun,4 Manoop S Bhutani,1 1Department of Gastroenterology, Hepatology and Nutrition, University of Texas MD Anderson Cancer Center, Houston, TX, USA; 2Department of Gastroenterology and Rheumatology, Fukushima University School of Medicine, Fukushima, Japan; 3Asian Institute of Gastroenterology, Hyderabad, India; 4University of Indonesia/Cipto Mangunkusumo Hospital, Jakarta, Indonesia Abstract: Hepatocellular carcinoma (HCC is an aggressive tumor and a leading cause of cancer-related deaths globally. The mortality rate remains high despite many advances in treatment. HCC is frequently diagnosed late in its course due to lack of classical symptoms at earlier stages. Endoscopic ultrasound (EUS has emerged as an important diagnostic tool for the diagnostic evaluation, staging, and treatment of gastrointestinal tract disorders. EUS-guided fine needle aspiration has been a valuable addition to EUS by being able to obtain tissue under direct visualization. Here, we review the potential role of EUS in the diagnosis and management of HCC. EUS seems to be a safe and reliable alternative method for obtaining tissue for diagnosis of liver cancer, especially for lesions that are inaccessible by traditional methods. EUS could play an important role in the diagnosis and management of HCC. Keywords: endoscopic ultrasound, fine needle aspiration, hepatocellular carcinoma, hepatoma

The Utility of Routine Ultrasound in the Diagnosis and Management of Adolescents with Abnormal Uterine Bleeding.

Science.gov (United States)

Pecchioli, Yael; Oyewumi, Lamide; Allen, Lisa M; Kives, Sari

2017-04-01

Despite the fact that most cases of abnormal uterine bleeding (AUB) in adolescence are due to an immature hypothalamic-pituitary-ovarian (HPO) axis, the current approach to investigating adolescents who present with AUB often includes pelvic ultrasound to exclude rare structural causes. The aim of this study was to determine whether an ultrasound ordered for the investigation of AUB in adolescents detects any significant anatomic pathology or alters diagnosis and management. A retrospective chart review of 230 patients younger than 18 years of age who presented with AUB to the gynecology clinic at the Hospital for Sick Children in Toronto, Canada between January 2010 and December 2012 was completed. Findings on pelvic ultrasound and any further imaging as well as management choices for these patients were examined. Of all patients, 67.8% (156/230) had ultrasound done as part of their AUB workup. The most common diagnosis for the patients who received ultrasound examinations and the patients who did not was AUB due to an immature HPO axis. Of the patients who received an ultrasound examination, 72.4% (113/156) had normal findings; incidental findings were identified in 17.9% (28/156) and polycystic ovary syndrome morphology in 6.4% (10/156). Structural causes of AUB were found in only 2 (1.3%) of the adolescents imaged. No patient had a change in her AUB management plan because of ultrasound findings. Our results strongly suggest that pelvic ultrasound examination is not required in the initial investigation of AUB in the adolescent population because it did not alter treatment in any of our patients. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.

Science.gov (United States)

Mademont-Soler, Irene; Morales, Carme; Clusellas, Núria; Soler, Anna; Sánchez, Aurora

2011-08-01

Chromosome abnormalities are one of the main causes of congenital defects, and establishing their frequency according to the different clinical indications for invasive procedure during pregnancy is especially important for genetic counselling. We analyzed the results of 29,883 amniotic fluid samples referred to our laboratory for cytogenetic studies from 1998 to 2009, which constitutes the largest series of cytogenetic analysis performed on amniotic fluid samples in Spain. The number of samples received tended to increase from 1998 to 2005, but after 2005 it decreased substantially. Cytogenetic results were obtained in 99.5% of the samples, and the detected incidence of chromosome abnormalities was 2.9%. Of these, 48.1% consisted of classical autosomal aneuploidies, trisomy 21 being the most frequent one. The main clinical indications for amniocentesis were positive prenatal screening and advanced maternal age, but referral reasons with highest positive predictive values were, excluding parental chromosome rearrangement, increased nuchal translucency (9.2%) and ultrasound abnormalities (6.6%). In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.

Science.gov (United States)

Dall'Asta, Andrea; Schievano, Silvia; Bruse, Jan L; Paramasivam, Gowrishankar; Kaihura, Christine Tita; Dunaway, David; Lees, Christoph C

2017-07-01

The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic condition but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing. The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling. STUDY DESIGN: Thirteen normal and 7 abnormal stored 3-dimensional ultrasound fetal face volumes were analyzed, at a median gestation of 29 +4  weeks (25 +0 to 36 +1 ). The 20 3-dimensional surface meshes generated were aligned and served as input for a statistical shape model, which computed the mean 3-dimensional face shape and 3-dimensional shape variations using principal component analysis. Ten shape modes explained more than 90% of the total shape variability in the population. While the first mode accounted for overall size differences, the second highlighted shape feature changes from an overall proportionate toward a more asymmetric face shape with a wide prominent forehead and an undersized, posteriorly positioned chin. Analysis of the Mahalanobis distance in principal component analysis shape space suggested differences between normal and abnormal fetuses (median and interquartile range distance values, 7.31 ± 5.54 for the normal group vs 13.27 ± 9.82 for the abnormal group) (P = .056). This feasibility study demonstrates that objective characterization and quantification of fetal facial morphology is possible from 3-dimensional ultrasound. This technique has the potential to assist in utero diagnosis, particularly of rare conditions in which facial dysmorphology is a feature. Copyright © 2017 Elsevier Inc. All rights reserved.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

Science.gov (United States)

Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

Fetal ascites and oligohydramnios: prenatal diagnosis of a sialic acid storage disease (index case).

Science.gov (United States)

Poulain, P; Odent, S; Maire, I; Milon, J; Proudhon, J F; Jouan, H; Le Marec, B

1995-09-01

In a 20-year-old primiparous patient, a routine ultrasound scan performed at 28 weeks revealed fetal ascites, bilateral talipes, and oligohydramnios. This woman, married to possibly her first cousin, was at risk for an autosomal recessive disease, a metabolic disorder. At 29 weeks, an amniotic fluid biochemical study revealed the presence of an abnormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was performed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.

Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases

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Edward Araujo Júnior

2014-09-01

Full Text Available Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.

Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

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Daniela Cardoso Pereira

2013-01-01

Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury Gene

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F. Fontanella

2016-01-01

Full Text Available Caudal regression syndrome (CRS is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.

Ultrasound in the diagnosis of a median neuropathy in the forearm: case report

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Yoon Joon-Shik

2007-12-01

Full Text Available Abstract Background Electrodiagnostic studies are traditionally used in the diagnosis of focal neuropathies, however they lack anatomical information regarding the nerve and its surrounding structures. The purpose of this case is to show that high-resolution ultrasound used as an adjunct to electrodiagnostic studies may complement this lack of information and give insight to the cause. Case presentation A 60-year-old male patient sustained a forearm traction injury resulting in progressive weakness and functional loss in the first three digits of the right hand. High-resolution ultrasound showed the presence of an enlarged nerve and a homogenous soft-tissue structure appearing to engulf the nerve. The contralateral side was normal. Surgery revealed fibrotic bands emanating from the flexor digitorum profundus muscle compressing the median nerve thus confirming the ultrasound findings. Conclusion A diagnostically challenging case of median neuropathy in the forearm is presented in which high-resolution ultrasound was valuable in establishing an anatomic etiology and directing appropriate management.

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound

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Pei-Yin Yang; Ching-Hua Wu; Guang-Perng Yeh; Charles Tsung-Che Hsieh

2015-01-01

Objective: Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. Case report: A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diproso...

Recovery of function renal post pyeloplasty, benefit of the prenatal diagnosis

International Nuclear Information System (INIS)

Baquedano, P.; Orellana, P.; Varas, J.

2002-01-01

Introduction: Prenatal detection of hydronephrosis has raised new questions upon the indications for operation. Moreover, there is controversy whether or not pyeloplasty improves renal function. Objective: to correlate improvement of the renal function after pyeloplasty with the demographic data, age of the surgery, the sex, the symptoms and the renal function initial. Materials and Methods: 58 children ( 55%). 12 kidneys improved after surgery (24,8%). The average age of surgery was 29 months. Results: Twelve kidneys improved after pyeloplasty (24%) and 46 kidney unimproved (76%). In the group with improvement of RRF after surgery the antenatal diagnosis is significantly more frequent (83%) and the age average at the moment of the surgery is smaller (4 months v/s 35 months) than the group without improvement. In the group with improvement 83% were operated before one year of age, however in the group without improvement only a 45% were operated before 1 year of age. On the contrary we don't find correlation among improvement and RRF initial. Not there was significant difference in the RRF initial in both groups. Conclusion: The improvement of renal function after pyeloplasty in the UPJ obstruction is independent of the renal function initial. Pyeloplasty improves the renal function in the group of prenatal diagnostic, improvement associated to a smaller surgical age

On what grounds do women participate in prenatal screening?

DEFF Research Database (Denmark)

Santalahti, P; Aro, A R; Hemminki, E

1998-01-01

, and diagnostic tests and their risks. Knowledge was poorer among women without a high school education. When counselling women about prenatal screening tests, more emphasis should be given to the sensitivity of serum screening, all of its screening uses, and the possible diagnostic tests and their risks...... of a procedure. The aim of this study was to examine Finnish women's knowledge and perceptions of, and stated reasons to participate in, two prenatal screening tests: serum screening and mid-trimester ultrasound screening. Subjects (n=1035) for the serum screening survey were catered for in the maternity care...... centres of two Finnish towns, where serum screening is available for all pregnant women. After one reminder, 88 per cent returned the questionnaire. Subjects (n=497) for the mid-trimester ultrasound screening survey were catered for in the obstetrical and gynaecological outpatient clinic of the city...

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.

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Zhu, D P; Antonarakis, S E; Schmeckpeper, B J; Diergaarde, P J; Greb, A E; Maumenee, I H

1989-08-01

We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.

Prenatal diagnostic decision-making in adolescents.

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Plaga, Stacey L; Demarco, Kristin; Shulman, Lee P

2005-04-01

We sought to evaluate the prenatal decision-making of pregnant adolescents identified at increased risk for identifiable fetal genetic abnormalities. A retrospective review of records of gravid women 19 years old or younger undergoing genetic counseling from 2001-2003 (inclusive) was undertaken. Hospital-based academic center. Thirty-seven women were identified; four cases did not meet inclusion criteria. None. Decision to undergo or forgo invasive prenatal testing. Of the 33 women included in this study, the average age was 17.6 years (range: 15-19). Eighteen were Latinas, eight were African-Americans, and seven were Caucasians. Sixteen women had positive maternal serum screening outcomes; nine women sought counseling because of personal/family histories of genetic abnormalities, seven sought counseling after fetal structural anomalies were detected by ultrasound, and one woman sought counseling because she and her partner were positive for Mendelian disorder screening (sickle cell disease). Sixteen of the women (48.5%) chose to undergo invasive testing (15 amniocenteses, one chorionic villus sampling) whereas 17 (51.5%) chose to forgo invasive testing. Adolescents offered invasive prenatal diagnosis will chose to undergo or forgo such testing based on diagnostic and personal criteria as do adult women. Nonetheless, unique adolescent issues may make the process by which information is obtained and communicated during counseling to be different from counseling provided to adults. The development of new genetic screening and diagnostic protocols has and will increase the number of pregnant adolescent women who will be offered genetic counseling during their pregnancies. Such an increase in numbers will place considerably more pressure on an already taxed genetic counseling system; accordingly, new counseling paradigms will need to be developed to provide service to an expanded patient population seeking information for an increasing number of genetic issues.

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

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Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

2013-12-01

Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

Parental psychological distress and quality of life after a prenatal or postnatal diagnosis of congenital anomaly: a controlled comparison study with parents of healthy infants.

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Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

2012-04-01

Parental early adjustment to a prenatal or postnatal diagnosis of congenital anomaly has been studied mainly within a pathological and deterministic perspective, giving us an inadequate view of the impact of the diagnosis. Adopting a comprehensive approach on parental adjustment, we aimed to characterise the impact of the diagnosis on psychological distress and quality of life, in the early postdiagnosis stage. The effects of gender and the timing of the diagnosis were also examined. In this cross-sectional study, 42 couples with healthy infants and 42 couples whose infants were prenatal or postnatally diagnosed with a congenital anomaly responded to the Brief Symptom Inventory-18 and to the World Health Organization Quality of Life-Brief instrument. In the early postdiagnosis stage, parents whose infants were diagnosed with a congenital anomaly presented higher levels of psychological distress than did the parents of healthy infants (F(2,79) = 6.23, p = .003), although they displayed similar levels of quality of life (F(4,78) = 0.62, p = .647). Mothers reported more adjustment difficulties than fathers in both groups. Receiving the diagnosis in the prenatal period was associated with higher maternal psychological quality of life (Z = -2.00, p = .045). The occurrence of a diagnosis of congenital anomaly during the transition to parenthood adds to an accumulation of stress-inducing events and manifests itself in psychopathological symptoms. Maintaining a positive evaluation of well-being may be understood as a parental resource to deal with the diagnosis. The importance of adopting a comprehensive perspective on parental adjustment is highlighted. Copyright © 2012 Elsevier Inc. All rights reserved.

The role of magnetic resonance imaging in prenatal diagnosis of fetal anomalies.

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Bekker, M N; van Vugt, J M

2001-06-01

Magnetic resonance imaging (MR) has become a useful adjuvant in evaluating fetal structural anomalies when ultrasound (US) is equivocal. It has a significant promise in confirming a US suspected abnormality and providing new information that was previously not available. The first studies on prenatal MR were hindered by fetal motion and long acquisition times. This degraded imaging and, therefore, maternal or fetal sedation was needed. Since fast and ultrafast MR with scan times of <1 s have become available, the amount of motion artifacts is decreased and sedation is no longer needed.MR has proved to be especially beneficial in detecting CNS anomalies. Agenesis of the corpus callosum, migration abnormalities and abnormalities of the posterior fossa are better seen on MR. Masses in the fetal neck and thorax can be identified on MR, as some abdominal anomalies. However, the fetal skeletal is difficult to visualize with MR. In the future, it is most likely that real time MR will become clinically available which would improve MR imaging even more.

Performance of Ultrasound in the Diagnosis of Gout in a Multi-Center Study

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Ogdie, Alexis; Taylor, William J; Neogi, Tuhina

2017-01-01

OBJECTIVES: To examine the performance of ultrasound for the diagnosis of gout using presence of monosodium urate (MSU) crystals as the gold standard. METHODS: We analyzed data from the Study for Updated Gout Classification Criteria (SUGAR), a large, multi-center observational cross-sectional stu...

Should prenatal hydronephrosis that resolves before birth be followed postnatally? Analysis and comparison to persistent prenatal hydronephrosis.

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Scarborough, Patrick L; Ferrara, Elizabeth; Storm, Douglas W

2015-09-01

Prenatal ultrasonography has greatly enhanced detection of congenital genitourinary abnormalities. However, although persistent prenatal hydronephrosis (PPH) is typically imaged and followed postnatally, it remains unclear if prenatal hydronephrosis that resolves in utero (RPH) should be similarly managed. We determined postnatal abnormalities associated with RPH and compared these to those associated with PPH. We performed a retrospective review of all consecutive patients evaluated for prenatal hydronephrosis over 24 months. Patients were followed prenatally with serial ultrasounds and postnatally with ultrasonography and a voiding cystourethrogram. Of the consecutive 165 patients enrolled in the study, 72 had RPH. The average prenatal anterior-posterior renal pelvis length was significantly longer in patients with PPH (5.5 mm) than in those with RPH (4.9 mm) (p = 0.01). Recurrent postnatal hydronephrosis occurred in 44% of patients with RPH, with eventual resolution in 34% of those affected. In comparison, 29% of PPH cases resolved postnatally. Mean time to resolution was statistically shorter for PPH (116 days) than for RPH (175 days) (p = 0.01). Seven PPH patients required surgery, while no RPH patients needed intervention (difference was statistically significant). A significant number of RPH children had postnatal hydronephrosis. Despite a slower resolution time, no children with RPH required intervention. Although RPH may recur postnatally, the significantly lower chance of intervention being required suggests that these children may not require postnatal imaging.

Evaluation of prenatal hydronephrosis: novel criteria for predicting vesicoureteral reflux on ultrasonography.

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Lee, Nora G; Rushton, H Gil; Peters, Craig A; Groves, Danja S; Pohl, Hans G

2014-09-01

Radiographic evaluation for prenatal hydronephrosis often includes voiding cystourethrography to ascertain whether vesicoureteral reflux is present. We sought to determine whether use of voiding cystourethrography could be limited to those patients at greatest risk for vesicoureteral reflux. We hypothesized that vesicoureteral reflux could be predicted by findings on renal/bladder ultrasonography of hydroureter, renal dysmorphia and/or duplication. We reviewed the records of patients with prenatal hydronephrosis who underwent initial postnatal ultrasonography and voiding cystourethrography during a 3-year period. The presence of vesicoureteral reflux on voiding cystourethrogram was correlated to ultrasound findings, including hydronephrosis grade, presence of hydroureter, renal dysmorphia or duplication, with ultrasound considered positive for any of the latter 3 findings. Of 262 patients 47 (18%) had vesicoureteral reflux. Ultrasound was positive in 24 of 29 patients (83%) with high grade reflux and 12 of 18 (67%) with low grade reflux. If ultrasonography showed any of the 3 positive findings, the odds ratio of detecting vesicoureteral reflux was 8.07 (95% CI 3.86, 16.87). Using these criteria, among all cases of prenatal hydronephrosis 5 (2%) with high grade vesicoureteral reflux and 6 (2%) with low grade reflux would have been missed. Among the 47 cases of reflux overall 5 of 29 high grade (17%) and 6 of 18 low grade cases (33%) would have been missed. By using ultrasonography criteria of hydroureter, duplication and renal dysmorphia for patients with prenatal hydronephrosis, vesicoureteral reflux can be detected more specifically. Using our criteria, 165 of 262 voiding cystourethrograms (63%) could have been avoided in patients with prenatal hydronephrosis during a 3-year period. Reducing these evaluations may decrease risks regarding radiation exposure, family anxiety and health care costs. Copyright © 2014 American Urological Association Education and

Computer-Aided Diagnosis of Different Rotator Cuff Lesions Using Shoulder Musculoskeletal Ultrasound.

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Chang, Ruey-Feng; Lee, Chung-Chien; Lo, Chung-Ming

2016-09-01

The lifetime prevalence of shoulder pain approaches 70%, which is mostly attributable to rotator cuff lesions such as inflammation, calcific tendinitis and tears. On clinical examination, shoulder ultrasound is recommended for the detection of lesions. However, there exists inter-operator variability in diagnostic accuracy because of differences in the experience and expertise of operators. In this study, a computer-aided diagnosis (CAD) system was developed to assist ultrasound operators in diagnosing rotator cuff lesions and to improve the practicality of ultrasound examination. The collected cases included 43 cases of inflammation, 30 cases of calcific tendinitis and 26 tears. For each case, the lesion area and texture features were extracted from the entire lesions and combined in a multinomial logistic regression classifier for lesion classification. The proposed CAD achieved an accuracy of 87.9%. The individual accuracy of this CAD system was 88.4% for inflammation, 83.3% for calcific tendinitis and 92.3% for tears. Cohen's k was 0.798. On the basis of its diagnostic performance, clinical use of this CAD technique has promise. Copyright © 2016 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

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Clarke, Nigel F; Andrews, Ian; Carpenter, Kevin; Jakobs, Cornelis; van der Knaap, Marjo S; Kirk, Edwin P

2003-08-01

D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy, and mild hypotonia. To date there has been a clear distinction between these two groups. We report the second case of a child with D2HGA who has followed an intermediate course. She presented in infancy with hypotonia, manageable epilepsy and developed moderate to severe developmental delay, and cortical visual impairment. The proposita had a coarse facial appearance, flat face, broad nasal bridge, up-turned nose, and simple, anteverted ears. These facial anomalies have been noted in other children with D2HGA and this case strengthens the proposed association between this facial phenotype and D2HGA. We also report the third and fourth instances of prenatal diagnosis for D2HGA. At each prenatal diagnosis, an affected fetus was diagnosed on the basis of markedly increased levels of D-2-hydroxyglutaric acid in amniotic fluid. Copyright 2003 Wiley-Liss, Inc.

The role of three-dimensional ultrasound in the differential diagnosis of

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Mustafa Ersöz

2011-03-01

Full Text Available Gastroschisis and omphalocele are the two of the mostcommon malformations of the anterior abdominal wallthat both of them associated with high morbidity andmortality. Sometimes the diagnosis and the realization ofthe situations by physicians and the parents are difficult.Herein, one omphalocele and one gastroschisis caseswere presented with the two-dimensional and threedimensionalultrasonographic diagnostic features. Thetwo entities and the role of three-dimensionalultrasound in diagnosis and the clinical management ofthe situations are discussed in the view of medicalliterature. The three-dimensional ultrasound helps in thediagnosis and detection of the severity of theomphalocele and the gastroschisis. J Clin Exp Invest2011; 2(1: 106-109

Ultrasound versus liver function tests for diagnosis of common bile duct stones.

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Gurusamy, Kurinchi Selvan; Giljaca, Vanja; Takwoingi, Yemisi; Higgie, David; Poropat, Goran; Štimac, Davor; Davidson, Brian R

2015-02-26

Ultrasound and liver function tests (serum bilirubin and serum alkaline phosphatase) are used as screening tests for the diagnosis of common bile duct stones in people suspected of having common bile duct stones. There has been no systematic review of the diagnostic accuracy of ultrasound and liver function tests. To determine and compare the accuracy of ultrasound versus liver function tests for the diagnosis of common bile duct stones. We searched MEDLINE, EMBASE, Science Citation Index Expanded, BIOSIS, and Clinicaltrials.gov to September 2012. We searched the references of included studies to identify further studies and systematic reviews identified from various databases (Database of Abstracts of Reviews of Effects, Health Technology Assessment, Medion, and ARIF (Aggressive Research Intelligence Facility)). We did not restrict studies based on language or publication status, or whether data were collected prospectively or retrospectively. We included studies that provided the number of true positives, false positives, false negatives, and true negatives for ultrasound, serum bilirubin, or serum alkaline phosphatase. We only accepted studies that confirmed the presence of common bile duct stones by extraction of the stones (irrespective of whether this was done by surgical or endoscopic methods) for a positive test result, and absence of common bile duct stones by surgical or endoscopic negative exploration of the common bile duct, or symptom-free follow-up for at least six months for a negative test result as the reference standard in people suspected of having common bile duct stones. We included participants with or without prior diagnosis of cholelithiasis; with or without symptoms and complications of common bile duct stones, with or without prior treatment for common bile duct stones; and before or after cholecystectomy. At least two authors screened abstracts and selected studies for inclusion independently. Two authors independently collected data from

Comparative study of multi-slice spiral CT angiography and color doppler ultrasound in diagnosis of arteriosclerotic occlusive disease of lower extremity

International Nuclear Information System (INIS)

Li Wanjun; Lai Zhenhui; Cui Dong; Lin Xiupeng; Du Muxuan

2010-01-01

Objective: To compare the difference between multi-slice spiral CT angiography (MSCTA) and color doppler ultrasound in diagnosis of arteriosclerotic occlusive disease of lower extremity. Methods: Patients with arteriosclerosis occlusion were assessed by color doppler ultrasound, multi-slice spiral CT angiography and digital subtraction angiography (DSA). The image information of color doppler ultrasound and MSCTA were compared with that of DSA. Results: Color doppler ultrasound showed the anatomical shape and hemodynamics of the arteries of lower extremity. The sensitivity, specificity, and accuracy for diagnosis arteriosclerotic occlusive disease of lower extremity were 88.04%, 90.69% and 88.77% respectively. MSCTA showed the three dimensional structure of the arteries of lower extremity as well as the collateral arteries and the distal arterials. The sensitivity, specificity and accuracy of MSCTA were 97.69%, 96.90% and 97.66%, respectively. Conclusion: Multi-slice spiral CT angiography is an ideal imaging method for the diagnosis of arteriosclerotic occlusive disease of lower extremity. (authors)

Eugenesia y diagnóstico prenatal

OpenAIRE

González Salvat, Rosa María; González Labrador, Ignacio

2002-01-01

El uso del diagnóstico prenatal en la práctica de la genética médica ha hecho que se recuerden teorías eugenésicas. Se realizó una revisión histórica de este término y se relacionó con el uso del diagnóstico prenatal (DPN) y el aborto selectivo a la luz de los conocimientos bioéticos actuales. The use of the prenatal diagnosis in the practice of medical genetics has led us to remember eugenic theories. A historical review of this term was made and it was connected with the use of prenatal ...

Histoscanning and shear wave ultrasound elastography for prostate cancer diagnosis

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A. V. Amosov

2016-01-01

Full Text Available Introduction. The shear wave ultrasound elastography is a recently developed ultrasound-based method in the clinical practice, which allows the qualitative visual and quantitative measurements of tissue stiffness. In the 2010 this technology of the shear wave was called Shear Wave Elastograhpy. Due to the front of the shear waves the qualitative and quantitative assessment of the tissue stiffness is possible.Objective is to examine the efficacy of the shear wave ultrasound elastography in the evaluation of the prevalence of the oncological disease in patients with the prostate cancer and to compare the obtained results with the routine method X-ray diagnostics.Materials and methods. From the april 2015 in the I.M. Sechenov First Moscow State Medical University Urology Clinic there were conducted 314 shear wave ultrasound elastography examinations of the prostate. The ultrasound system Aixplorer® by SuperSonic Imagine was used. This system provides information provided by B-mode and shear wave ultrasound elastography mode. The transrectal echograms were made in 6 dimensions, so called Q-boxes (3 demensions in the every lobe on the segments from the base to the apex, according to the biopsy zone. The unit of measurement was the mean value in the kilopaskals (kPa. All the patients were randomized into 3 groups. There were 146 men with the possible prostate cancer in the first group (prospective study, 120 men with the certain diagnosis of the prostate cancer in the second group (retrospective study and 48 healthy men in the third group (control study. In all the patients of the first and the second groups the routine complete examination, including the prostate specific antigen (PSA level examination, digital rectal examination (DRE, doppler transrectal ultrasonography (TRUS, histoscanning and ultrasound shear wave elastography (SWE, was conducted. In the 229 patients of the first and the second groups the prostatectomy with the

Endoscopic ultrasound with double-balloon endoscopy for the diagnosis of inverted Meckel’s diverticulum: a case report

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Araki Akihiro

2012-09-01

Full Text Available Abstract Introduction Inverted Meckel’s diverticulum has usually been misdiagnosed in the cases based on computed tomography images presented in the literature. The final diagnosis was made intra-operatively or by pathology reports after surgery. Despite this, preoperative diagnosis could be made successfully by using endoscopic ultrasound with double-balloon endoscopy prior to surgery. Case presentation A 60-year-old Japanese woman with severe anemia complained of several episodes of black stool over the preceding 2 years. Abdominal computed tomography showed a 3.0-cm low-density tumor in the ileum, suggesting a diagnosis of intestinal lipoma. Examination of the tumor by endoscopic ultrasound with double-balloon endoscopy revealed a hypo-echoic layer corresponding to the muscularis propria, and a hyper-echoic layer corresponding to the fat tissue. These findings, which suggested that the tumor included areas outside the intestinal serosa, are not typical for a lipoma, despite the existence of a hyper-echoic layer corresponding to fatty tissue. We then considered a diagnosis of inverted Meckel’s diverticulum. Conclusion Lipoma and inverted Meckel’s diverticulum are difficult to differentially diagnose by computed tomography. Polypectomy is the preferred therapeutic approach when a lipoma is present; however, polypectomy in a patient with Meckel’s diverticulum requires full-thickness resection. Situations where polypectomy is performed without preparing for full-thickness resection can be avoided by first making a precise diagnosis using double-balloon endoscopy and endoscopic ultrasound.

遗传性耳聋产前诊断的研究进展%Research Progresses in Prenatal Diagnosis of Hereditary Deafness

Institute of Scientific and Technical Information of China (English)

张秀菊; 田永胜; 杨华

2015-01-01

With the development of molecular biology, molecular genetics of deafness has seen great advances in recent years. By means of these techniques, prenatal diagnosis can be performed in families with hereditary deafness and reduce the birth rate of children with hearing loss. The next generation sequencing (NGS) can identify the genotype of fetuses by testing the free fetus DNA in the maternal peripheral blood and avoid the potential procedure-related fetal loss caused by traditional invasive prenatal diagnosis. The application of preimplantation genetic diagnosis will reduce the therapeutic abortion which may induce physical and mental injuries. This review briefly introduces and discusses the current status of research on prenatal diagnosis of hereditary hearing loss.%随着分子生物学的发展，耳聋分子遗传学取得了重大突破，借助分子遗传学技术在聋人群体及遗传性耳聋家庭中开展产前诊断可减少聋儿的出生。新一代测序技术（next generation sequencing，NGS）可以通过检测孕妇外周血中胎儿游离DNA鉴定胎儿基因型，避免了传统有创产前诊断在取材时所带来的创伤。胚胎植入前遗传学诊断（preimplantation genetic diagnosis, PGD）技术的应用可以减少常规产前诊断可能面临的选择性流产带来的巨大身心伤害。本文总结并分析了遗传性耳聋产前诊断的研究现状和进展。

Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

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Egić Amira

2011-01-01

Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

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Vincenzo Mazza

2013-01-01

Full Text Available Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5α-reductase 2 gene (SRD5A2. Results. 3D-4D surface rendering allows the detection of external and internal genital malformations and can address the prenatal diagnosis of PAIS and can exclude associated complications. Conclusions. Prenatal diagnosis of PAIS allows an adequate parental counseling and an early optimal management of the condition, not only for the psychological and social reflections but also for the avoidance of complications and postnatal morbidity due to misdiagnosis or delays in the treatment of the genital ambiguity.

Effects of Student-Performed Point-of-Care Ultrasound on Physician Diagnosis and Management of Patients in the Emergency Department.

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Udrea, Daniel S; Sumnicht, Andrew; Lo, Deanna; Villarreal, Logan; Gondra, Stephanie; Chyan, Richard; Wisham, Audra; Dinh, Vi Am

2017-07-01

Despite the increasing integration of ultrasound training into medical education, there is an inadequate body of research demonstrating the benefits and practicality of medical student-performed point-of-care ultrasound (SP-POCUS) in the clinical setting. The primary purpose of this study was to evaluate the effects that SP-POCUS can have on physician diagnosis and management of patients in the emergency department, with a secondary purpose of evaluating the diagnostic accuracy of SP-POCUS. SP-POCUS examinations were performed in the emergency department by medical students who completed year one of a 4-year medical school curriculum with integrated ultrasound training. Scans were evaluated by an emergency physician who then completed a survey to record any changes in diagnosis and management. A total of 641 scans were performed on the 482 patients enrolled in this study. SP-POCUS resulted in a change in management in 17.3% of scans performed. For 12.4% of scans, SP-POCUS discovered a new diagnosis. SP-POCUS reduced time to disposition 33.5% of the time. Because of SP-POCUS, physicians avoided ordering an additional imaging study for 53.0% of the scans performed. There was 94.7% physician agreement with SP-POCUS diagnosis. This study showed that SP-POCUS is feasible and may potentially have a meaningful impact on physician diagnosis and management of patients in the emergency department. In addition, the implementation of SP-POCUS could serve as an ideal method of developing ultrasound skills in medical school while positively impacting patient care. Copyright © 2017 Elsevier Inc. All rights reserved.

Noninvasive prenatal testing: the future is now.

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