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Twins and prenatal diagnosis

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https://www.readbyqxmd.com/read/28484895/diagnosis-of-umbilical-cord-entanglement-in-a-monochorionic-diamniotic-twin-pregnancy-with-spontaneous-septostomy-of-the-dividing-membranes-using-dual-gate-doppler-imaging
#1
Ayumu Ito, Masahiko Nakata, Ayako Oji, Mayumi Takano, Nahomi Umemura, Sumito Nagasaki, Toshimitsu Maemura, Mineto Morita
Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes...
May 8, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28403926/prenatal-microarray-comparative-genomic-hybridization-experience-from-the-two-first-years-of-activity-at-the-lyon-university-hospital
#2
L Pons, M Till, E Alix, C Abel, D Boggio, A Bordes, J Caloone, F C Raskin, N Chatron, M-P Cordier, A Fichez, A Labalme, C Lajeunesse, É Liaras, M Massoud, J Miribel, E Ollagnon, C Schluth-Bolard, A Vichier-Cerf, P Edery, J Attia, C Huissoud, R C Rudigoz, J Massardier, P Gaucherand, D Sanlaville
OBJECTIVES: This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital. MATERIALS AND METHODS: This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#3
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28370096/recipient-twin-circular-shunt-physiology-before-fetal-laser-surgery-survival-and-risks-for-postnatal-right-ventricular-outflow-tract-obstruction
#4
Jay D Pruetz, Jodie K Votava-Smith, Hikmat R Chmait, Lisa M Korst, Arlyn Llanes, Ramen H Chmait
OBJECTIVES: To evaluate risk for congenital heart disease (CHD) in recipient twins with circular shunt physiology (CSP). METHODS: This prospective study enrolled twin-twin transfusion syndrome (TTTS) cases from 2006 to 2015. Fetal echocardiography (FE) was performed before laser surgery when cardiac involvement was suspected. Diagnosis of recipient twin CSP required tricuspid and pulmonary regurgitation, right ventricular dysfunction, and flow reversal in the ductus arteriosus...
April 3, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28314387/twin-pregnancy-complicated-by-esophageal-atresia-duodenal-atresia-gastric-perforation-and-hypoplastic-left-heart-structures-in-one-twin-a-case-report-and-review-of-the-literature
#5
Mohamad K Abou Chaar, Mariana L Meyers, Bethany D Tucker, Henry L Galan, Kenneth W Liechty, Timothy M Crombleholme, Ahmed I Marwan
BACKGROUND: The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy...
March 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28299660/etv6-runx1-acute-lymphoblastic-leukaemia-in-identical-twins
#6
Anthony M Ford, Mel Greaves
Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28251228/conjoined-twins-in-a-triplet-pregnancy-a-rare-obstetrical-dilemma
#7
Huseyin C Ozcan, Mete G Ugur, Aynur Mustafa, Irfan Kutlar
Conjoined twins are derived from division of a single fertilized ovum after the twelfth day of fertilization. Triplet conjoined twin is considered as a unique phenomenon that is accompanied with a wide variety of congenital abnormalities and also hazardous consequences for both fetuses and parents. We present an extremely rare case of conjoined twins in a triplet pregnancy with symmetric thoracoomphalopagus that was diagnosed in prenatal period by using ultrasound scanning and MRI. In triplet pregnancies, we should be aware about the possibility of conjoined twins...
March 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28231064/three-dimensional-ultrasound-for-prenatal-assessment-of-conjoined-twins-additional-advantages
#8
Tuangsit Wataganara, Pornpimol Ruangvutilert, Prasert Sunsaneevithayakul, Kusol Russameecharoen, Katika Nawapun, Nisarat Phithakwatchara
Conjoined twins are a rare, but serious, complication of monozygotic twins. Early prenatal diagnosis of conjoined twins is increasingly made with transvaginal ultrasound and color Doppler studies. Most prenatally diagnosed conjoined twins are terminated due to the high perinatal mortality, but advancement in pediatric surgery has allowed for successful postnatal separation in a small number of cases, and some parents may consider this option over termination of pregnancy. It is important to get a detailed prenatal ultrasound for the site and extent of fusion for an accurate categorization...
February 23, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28153653/prenatal-diagnosis-and-management-of-vasa-previa-in-twin-pregnancies-a%C3%A2-case-series-and%C3%A2-systematic-review
#9
REVIEW
Eric Jauniaux, Yaakov Melcer, Ron Maymon
BACKGROUND: Twin pregnancies are at higher risks of velamentous cord insertion and vasa previa. In vitro fertilization is an additional risk factor of abnormal cord insertion and thus the incidence of vasa previa is likely to increase over the next decades. OBJECTIVE: We sought to evaluate the role of ultrasound imaging in optimizing the management of twins diagnosed with vasa previa antenatally. STUDY DESIGN: We searched our database for twin pregnancies diagnosed with vasa previa and managed antenatally using measurements of cervical length and performed a systematic review of articles that correlated prenatal diagnosis of vasa previa in twins and pregnancy outcome...
January 30, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28150444/the-influence-of-chorionicity-and-gestational-age-at-single-fetal-loss-on-the-risk-of-preterm-birth-in-twin-pregnancies-analysis-of-the-stork-multiple-pregnancy-cohort
#10
Francesco D'Antonio, Basky Thilaganathan, Tiran Dias, Asma Khalil
BACKGROUND: Single intrauterine death (sIUD) in twin pregnancies is associated with a significant risk of co-twin demise and preterm birth (PTB), especially in monochorionic (MC) twins. However, it is yet to be established whether the gestational age at loss may influence the pregnancy outcome. The aim of this study was to explore the risk of PTB according to the gestational age at the diagnosis of sIUD. METHODS: A cohort study of all twin pregnancies from a large regional network of 9 hospitals over a ten-year period...
February 2, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27896259/prenatal-diagnosis-of-spontaneous-twin-anemia-polycythemia-sequence-and-postnatal-examination-of-placental-vascular-anastomoses
#11
Jin Young Bae, Jin Ju Oh, Seong Yeon Hong
Twin anemia-polycythemia sequence (TAPS) is characterized by a wide discrepancy of hemoglobin between two monochorionic fetuses without sign of twin oligo-polyhydramnios sequence. A primiparous woman with monochorionic diamniotic twin transferred for preterm labor. Ultrasonographic evaluation at 32+3 weeks of gestation revealed increased middle cerebral artery-peak systolic velocity (77.4 cm/sec, 1.69 multiples of median) in donor and decreased in recipient twin (36.4 cm/sec, 0.79 multiples of median), the twin was diagnosed with TAPS...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27741189/prenatally-diagnosed-vasa-previa-a-single-institution-series-of-96-cases
#12
Val Catanzarite, Larry Cousins, Sean Daneshmand, Wade Schwendemann, Holly Casele, Joanna Adamczak, Tevy Tith, Ami Patel
OBJECTIVE: To describe outcomes for a large cohort of women with prenatally diagnosed vasa previa, determine the percentage in patients without risk factors, and compare delivery timing and indications for singletons and twins. METHODS: This was a retrospective case series of women with prenatally diagnosed vasa previa delivered at a single tertiary center over 12 years. Potential participants were identified using hospital records and perinatal databases. Patients were included if vasa previa was confirmed at delivery and by pathologic examination...
November 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27726479/death-of-one-twin-during-the-perinatal-period-an-interpretative-phenomenological-analysis
#13
Sarah Meaney, Paul Corcoran, Keelin O'Donoghue
BACKGROUND: Perinatal death is one of the most difficult bereavements due to the shock and profound grief experienced by parents. It has been established that such bereavement has a life-lasting impact. Twin pregnancy is associated with increased perinatal risk, with higher rates of perinatal mortality than in singleton pregnancy. OBJECTIVES: To date, few studies have examined the effect of the loss of one twin diagnosed with a congenital abnormality during pregnancy...
March 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/27711965/measuring-circulating-placental-rnas-to-non-invasively-assess-the-placental-transcriptome-and-to-predict-pregnancy-complications
#14
REVIEW
Clare L Whitehead, Susan P Walker, Stephen Tong
Circulating nucleic acids have revolutionized prenatal diagnosis in the last decade, allowing non-invasive screening for single gene or chromosomal defects using a single sample of maternal blood. In addition to DNAs, RNAs from the placenta are released into the maternal blood from early in pregnancy and may reflect changes in gene expression occurring within the placenta. Measuring circulating RNA may therefore provide insights into the placental transcriptome without the need for invasive testing. Combined with advances in next-generation sequencing and molecular analyses, it may be possible to measure circulating RNA to improve our understanding of placental pathology and develop novel non-invasive biomarkers for pregnancy complications and monitoring high-risk pregnancies...
November 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27651614/evaluation-of-referral-pattern-for-fetal-echocardiography-at-a-tertiary-care-center-in-northern-india-and-its-implications
#15
Anupama Nair, S Radhakrishnan
OBJECTIVE: To determine the referral pattern for fetal echocardiography (FE) at our tertiary referral center for pediatric cardiac care in northern India. We also aimed to determine the incidence of CHD in each group and intend to highlight the need of identifying the various risk factors and appropriate timely referral of patients for detailed evaluation. METHODS: This is a prospective study including 201 consecutive patients referred for fetal echo to our center...
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27646419/ep08-08-critical-pulmonary-valve-stenosis-in-dichorionic-and-diamniotic-twins-prenatal-diagnosis-pregnancy-outcomes-and-postnatal-development
#16
C A Capuruço, N C Vercosa, R M Lopes
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27645408/ep10-44-prenatal-diagnosis-of-larsen-syndrome-in-a-twin-pregnancy
#17
L C Bussamra, P L Silva, J Mazzola, F Amed, E Araujo, L Nardozza, A F Moron
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27644204/ep20-10-early-prenatal-diagnosis-of-parasitic-conjoint-twin
#18
M Ruiz, Y Ville, T Quibel, J Roume, B Bessières, J Bault
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27617157/thoracic-hypoplasia-at-birth-as-presenting-feature-of-shwachman-diamond-syndrome-in-twins
#19
Letizia Capasso, Angela Carla Borrelli, Julia Cerullo, Maria Rosaria Pirozzi, Francesco Raimondi
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27575504/performance-of-ultrasound-fetal-weight-estimation-in-twins
#20
Kaouther Dimassi, Abir Karoui, Amel Triki, Mohamed Faouzi Gara
BACKGROUND: Ultrasonography is an essential tool in the management of twin pregnancies. Fetal weight estimation is useful to anticipate neonatal care in case of weight restriction or growth discordance. AIMS: To assess the accuracy of estimated fetal weight (EFW) in twins and to assess the accuracy of sonographic examination to predict birth weight discordance (BWD) and small birth weight (SBW).    Methods : This was  a longitudinal prospective study over a period of one year...
March 2016: La Tunisie Médicale
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