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Twins and prenatal diagnosis

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...
October 6, 2016: Obstetrics and Gynecology
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...
October 11, 2016: Journal of Palliative Medicine
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 deoxyribonucleic acids (DNA), ribonucleic acids (RNA) 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...
October 6, 2016: Prenatal Diagnosis
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
C A Capuruço, N C Vercosa, R M Lopes
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
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
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
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
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
Charlotte J Marshall, Paul Arundel, Talat Mushtaq, Amaka C Offiah, Rebecca C Pollitt, Nicholas J Bishop, Meena Balasubramanian
Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal). When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis. It is important to make a diagnosis in antenatal presentation of skeletal dysplasias to inform diagnosis, predict prognosis, provide accurate recurrence risks, and options for prenatal genetic testing in future pregnancies...
August 23, 2016: American Journal of Medical Genetics. Part A
Veronica Giorgione, Paolo Cavoretto, Gennaro Cormio, Luca Valsecchi, Antonella Vimercati, Alessandra De Gennaro, Emanuela Rabaiotti, Massimo Candiani, Giorgia Mangili
AIM: The study aimed to describe prenatal diagnosis and the outcome of complete hydatidiform mole and coexistent normal fetus (CHMCF). METHODS: This was a retrospective case series of 13 patients with CHMCF. Prenatal diagnosis, outcome and development of gestational trophoblastic neoplasia (GTN) were reviewed. RESULTS: Ultrasound diagnosis was carried out in 12 of 13 cases at 17 ± 2.7 weeks of gestation (mean ± SD). Six patients showed abnormalities suggestive of subchorionic hematoma on first trimester ultrasonography (US)...
August 13, 2016: Gynecologic and Obstetric Investigation
Keiko Watanabe, Masanori Ono, Mayu Shirahashi, Toshiyuki Ikeda, Kazumi Yakubo
Conjoined twins are a rare phenomenon, occurring in 1% of monochorionic twin gestation, with an incidence of 1 : 50 000 to 1 : 100 000. Many conjoined twins have abnormalities incompatible with life, so early prenatal diagnosis is very important for optimal management of both pregnancy and delivery. We report a case of dicephalus parapagus conjoined twins, sharing a single heart, diagnosed at 12 weeks' gestation. With early ultrasound diagnosis, we were able to provide appropriate and timely prenatal counseling to the family...
2016: Case Reports in Obstetrics and Gynecology
J Stirnemann, G Chalouhi, M Essaoui, N Bahi-Buisson, P Sonigo, A-E Millischer, A Lapillonne, V Guigue, L J Salomon, Y Ville
OBJECTIVE: To describe the incidence and nature of prenatal brain damage following fetoscopic laser selective coagulation (FLSC) of placental vessels for twin-to-twin transfusion syndrome (TTTS). DESIGN: Retrospective observational study. SETTING: Single center cohort. POPULATION: All consecutive cases referred for TTTS treated by FLSC between 2003 and 2015. METHODS: After the FLSC, patients were followed weekly by ultrasound...
June 27, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
X H Yang, Y Q Xu, X L Chen, S Zhao, L Zhang, D Pugash
This article reports a case of prenatal ultrasonographic diagnosis and monitoring of the twin reversed arterial perfusion (TRAP) sequence pump twin and describes progression of the disorder to a severe heart failure and fetal death. Genetic analyses were also performed for both fetuses by array-based comparative genomic hybridization (aCGH).
2016: Clinical and Experimental Obstetrics & Gynecology
Aytul Corbacioglu Esmer, Ahmet Gul, Hediye Dagdeviren, Isil Turan Bakirci
We report a monochorionic diamniotic twin pregnancy with prenatal diagnosis of aortopulmonary septal defect combined with type B interrupted aortic arch in one of the fetuses. The mother was referred for fetal echocardiography at 24 weeks' gestation due to suspected congenital heart disease. Prenatal echocardiography revealed a defect of 2.8 mm between the main pulmonary artery and the ascending aorta. The course of the ascending aorta was straight to the neck and head, and there was no continuity of the aortic arch after the origin of innominate and left common carotid arteries...
October 2012: Journal of Medical Ultrasonics
B Clive, G Corsten, L S Penney, M Van den Hof, W El-Naggar
Chromosome 22q11.2 deletion syndrome is common and presents with a range of clinical features from cardiac malformations to hypocalcemia. Laryngeal anomalies are not a common feature of this syndrome. We describe newly born twins who presented with unexpected severe birth depression secondary to severe type IV glottic webs requiring extensive resuscitation and emergency tracheostomy. They were diagnosed postnatally to have deletion of 22q11.2. The successful resuscitation of these infants at birth was only possible because they were born in a tertiary care hospital...
May 18, 2016: Journal of Neonatal-perinatal Medicine
Jessica C Agnew-Blais, Guilherme V Polanczyk, Andrea Danese, Jasmin Wertz, Terrie E Moffitt, Louise Arseneault
IMPORTANCE: Attention-deficit/hyperactivity disorder (ADHD) is now recognized to occur in adulthood and is associated with a range of negative outcomes. However, less is known about the prospective course of ADHD into adulthood, the risk factors for its persistence, and the possibility of its emergence in young adulthood in nonclinical populations. OBJECTIVE: To investigate childhood risk factors and young adult functioning of individuals with persistent, remitted, and late-onset young adult ADHD...
July 1, 2016: JAMA Psychiatry
C Vedel, H Larsen, A Holmskov, K R Andreasen, N Uldbjerg, J Ramb, B Bødker, L Skibsted, L Sperling, L Krebs, H Zingenberg, L Laursen, J T Christensen, A Tabor, L Rode
OBJECTIVES: To perform a neurophysiological follow-up at 48 or 60 months of age in children exposed prenatally to progesterone compared with a placebo and evaluate their medical histories up to 8 years of age. METHODS: In this study, Danish participants of the PREDICT study, including 989 surviving children from 498 twin pregnancies, were followed-up. PREDICT was a placebo-controlled randomized clinical trial examining the effect of progesterone for prevention of preterm delivery in unselected twin pregnancies...
September 2016: Ultrasound in Obstetrics & Gynecology
Gina N Woods, Alec Saitman, Hanlin Gao, Nigel J Clarke, Robert L Fitzgerald, Nai-Wen Chi
The CYP24A1 gene encodes a mitochondrial 24-hydroxylase that inactivates 1,25(OH)2 D. Loss-of-function mutations in CYP24A1 cause hypercalcemia, nephrolithiasis and nephrocalcinosis. We describe a woman with CYP24A1 deficiency and recurrent gestational hypercalcemia. Her first pregnancy, at age 20, resulted in the intrauterine demise of twin fetuses. Postpartum, she developed severe hypercalcemia (14 mg/dL), altered mental status, and acute pancreatitis. Her PTH was suppressed (6 pg/mL) and her 1,25(OH)2 D was elevated (165 and 195 pg/mL on postpartum day 1 and 5, respectively)...
April 22, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
L Mf Tee, E Yl Kan, J Cy Cheung, W C Leung
INTRODUCTION: This review covers the recent literature on fetal brain magnetic resonance imaging, with emphasis on techniques, advances, common indications, and safety. METHODS: We conducted a search of MEDLINE for articles published after 2010. The search terms used were "(fetal OR foetal OR fetus OR foetus) AND (MR OR MRI OR [magnetic resonance]) AND (brain OR cerebral)". Consensus statements from major authorities were also included. As a result, 44 relevant articles were included and formed the basis of this review...
June 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
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