Read by QxMD icon Read

Fetal malformations

Annah Lane, Ling Lee, Donna Traves, Andreas Lee
INTRODUCTION: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature...
October 21, 2016: Journal of Medical Imaging and Radiation Oncology
M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Manuella Gautier, Michèle Gueneret, Corinne Plavonil, Eugénie Jolivet, Bruno Schaub
OBJECTIVE: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21. METHODS: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. The relationship between fetal NBL and GA was determined...
October 21, 2016: Fetal Diagnosis and Therapy
Oluwagbemiga Oluwole Ayoola, Peter Bulus, Olabisi Morebisi Loto, Bukunmi Michael Idowu
AIM: To determine the Doppler indices of the umbilical arteries in normal singleton pregnancy with a view to generating local reference ranges. METHODS: In this prospective, cross-sectional study, 400 pregnant women at 15-39 weeks' gestational age, with estimated fetal weight within the 10th and 90th percentile, no fetal malformation(s), and without any history of maternal medical disease, were recruited. Umbilical arteries were assessed on ultrasound, with the subjects in the supine position...
October 20, 2016: Journal of Obstetrics and Gynaecology Research
Y Yu, S Cnattingius, J Olsen, E T Parner, M Vestergaard, Z Liew, N Zhao, J Li
BACKGROUND: The loss of a close relative is one of the most stressful life events. In pregnancy, this experience has been associated with a higher risk of fetal death and under-five mortality, but little is known about potential effects on long-term mortality in offspring. We examined the association between prenatal maternal bereavement and mortality in a cohort of 5.3 million children followed until up to 37 years of age. METHOD: The population-based cohort study included 5 253 508 live singleton births in Denmark (1973-2004) and Sweden (1973-2006)...
October 20, 2016: Psychological Medicine
Mahbobe Gholami, Seyed Adel Moallem, Mohammad Afshar, Sakineh Amoueian, Leila Etemad, Gholamreza Karimi
OBJECTIVE: Silybum marianum has been used for centuries in herbal medicine for treatment of liver diseases. Currently, there is no data available on the possible effects of silymarin on fetal development. This study aimed to investigate the teratogenic effect of silymarin on BALB/c mice fetuses. MATERIALS AND METHODS: A total of 40 pregnant mice were divided into 4 groups of 10 mice each. Three groups received silymarin at three different doses of 50, 100 and 200 mg/kg/day during gestational days (GDs)...
September 2016: Avicenna Journal of Phytomedicine
Brodie Parent, Ira Martopullo, Noel S Weiss, Saurabh Khandelwal, Emily E Fay, Ali Rowhani-Rahbar
Importance: Metabolic changes after maternal bariatric surgery may affect subsequent fetal development. Many relevant perinatal outcomes have not been studied in this postoperative population, and the risks associated with short operation-to-birth (OTB) intervals have not been well examined. Objective: To examine the risk for perinatal complications in women with a history of bariatric surgery (postoperative mothers [POMs]) by comparing them with mothers without operations (nonoperative mothers [NOMs]) and examining the association of the OTB interval with perinatal outcomes...
October 19, 2016: JAMA Surgery
Amos Grünebaum, Laurence B McCullough, Birgit Arabin, Joachim Dudenhausen, Brooke Orosz, Frank A Chervenak
INTRODUCTION: The objective of this study was to evaluate the underlying causes of neonatal mortality (NNM) in midwife-attended home births and compare them to hospital births attended by a midwife or a physician in the United States (US). METHODS: A retrospective cohort study of the Centers for Disease Control (CDC) linked birth/infant death data set (linked files) for 2008 through 2012 of singleton, term (≥37 weeks) births and normal newborn weights (≥2500 grams)...
October 18, 2016: Journal of Perinatal Medicine
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
September 19, 2016: Neuromuscular Disorders: NMD
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Eyal Sheiner, Tamar Wainstock, Daniella Landau, Asnat Walfisch
OBJECTIVE: To evaluate the association between sex and long-term pediatric cardiovascular morbidity. STUDY DESIGN: A population-based cohort study was performed that compared the risk of long-term cardiovascular morbidity (up to the age of 18 years) of children according to sex. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center. Multiple pregnancies and fetal congenital malformations were excluded. Kaplan-Meier survival curves were constructed to compare cumulative cardiovascular morbidity incidence...
October 13, 2016: Journal of Pediatrics
Lucilla Poston, Rishi Caleyachetty, Sven Cnattingius, Camila Corvalán, Ricardo Uauy, Sharron Herring, Matthew W Gillman
Obesity in women of reproductive age is increasing in prevelance worldwide. Obesity reduces fertility and increases time taken to conceive, and obesity-related comorbidities (such as type 2 diabetes and chronic hypertension) heighten the risk of adverse outcomes for mother and child if the woman becomes pregnant. Pregnant women who are obese are more likely to have early pregnancy loss, and have increased risk of congenital fetal malformations, delivery of large for gestational age infants, shoulder dystocia, spontaneous and medically indicated premature birth, and stillbirth...
October 10, 2016: Lancet Diabetes & Endocrinology
Chandni Prakash, Susan Hatters-Friedman, Charmian Moller-Olsen, Abigail North
INTRODUCTION: Pregnancy is a vulnerable period for recurrence of bipolar disorder. Discontinuation of mood stabilisers during pregnancy and the postpartum period can significantly increase the risk of recurrence of bipolar disorder. Lamotrigine is an anti-epileptic drug that has been approved for the maintenance treatment of bipolar disorder. Epilepsy literature has indicated that lamotrigine has a reassuring safety profile in pregnancy but there is little information on its effectiveness and safety in pregnant women with mental disorders...
August 15, 2016: Psychopharmacology Bulletin
Li-Hong Wu, Hong-Ning Xie, Dario Paladini, Ju Zheng, Liu Du, Mei-Fang Lin
OBJECTIVES: To establish fetal azygos vein and descending aorta sonographic Z score formulas based on femur length and gestational age and to determine the value of azygos vein diameter variation for potential use in the diagnosis of fetal venous malformations related to the azygos vein. METHODS: A total of 452 healthy singleton fetuses and 25 fetuses with venous malformations related to the azygos vein underwent prenatal sonography in this retrospective study. Azygos vein and descending aorta diameters were measured offline after spatiotemporal image correlation volume acquisition...
October 13, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Jessica Eleanor Stokes, Matthew Baylis, Jennifer Sarah Duncan
In 2011-2012, northern European livestock faced a threat from a newly emerged virus, Schmallenberg virus (SBV), only a few years after a major outbreak of bluetongue serotype 8 (BTV-8). Like BTV-8, SBV is transmitted by Culicoides biting midges to ruminants and spread throughout Europe. SBV, however, spread faster, reaching the UK within three months of initial discovery. Adult ruminants show only mild, if any, clinical signs; however, infection of naive ruminants by SBV during the vulnerable period of gestation leads to abortions, stillbirths and fetal malformations...
October 11, 2016: Veterinary Record
Blanka Vasak, Jessica J Verhagen, Steven V Koenen, Maria P H Koster, P A O M de Reu, Arie Franx, Jan G Nijhuis, Gouke J Bonsel, Gerard H A Visser
BACKGROUND: Twin pregnancies are at increased risk for perinatal morbidity and mortality, due to many factors including a high incidence of preterm delivery. Compared to singleton pregnancies overall perinatal mortality risk is higher in twin pregnancies, however for the preterm period perinatal mortality has been reported to be lower in twins. OBJECTIVE: To compare perinatal mortality in relation to gestational age at birth between singleton and twin pregnancies, taken into account socioeconomic status, fetal sex and parity...
October 8, 2016: American Journal of Obstetrics and Gynecology
Mark Lubinsky
An association between congenital malformations and fetal growth restriction (FGR) can be largely explained by a relationship with early embryonic hypocellularity. The malformations include the VACTERL association, which is exceptional as a Mendelian syndrome, but is commonly associated with monozygotic twinning, maternal diabetes, and some forms of aneuploidy, all characterized by a small embryo early in development. Parsimony suggests that these different links to VACTERL are related to the hypocellularity as a single common factor, rather than as an expression of three independent pathogenetic processes...
September 22, 2016: American Journal of Medical Genetics. Part A
Catharina Rydberg, Katarina Tunón
INTRODUCTION: This study assessed the sensitivity of routine ultrasound examination for the detection of abnormal chromosomes and structural malformations in fetuses in the second trimester in a non-selected population. MATERIAL AND METHODS: Prenatal diagnoses of fetal abnormalities in 10 414 fetuses and newborns were reviewed and compared with all postnatal diagnoses of congenital abnormalities between 2006 and 2013. RESULTS: Overall, 243 fetuses and newborns had confirmed congenital abnormalities, with a prevalence of 2...
October 7, 2016: Acta Obstetricia et Gynecologica Scandinavica
Qingmei Nie, Baohua Su, Jianping Wei
Epilepsy is one of the few neurologic disorders that requires a constant treatment during pregnancy. Epilepsy affects 0.3-0.8% of pregnant women. Prescription of antiepileptic drugs (AEDs) to pregnant women with epilepsy requires monitoring and maintaining a balance between limiting seizures and decreasing fetal exposure to the potential teratogenic effects. AEDs are also commonly used for psychiatric disorders, pain disorders, and migraines. The types of malformations that can result in fetuses exposed to AEDs include minor anomalies, major congenital malformations, intrauterine growth retardation, cognitive dysfunction, low IQ, microcephaly, and infant mortality...
October 2016: Experimental and Therapeutic Medicine
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"