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https://www.readbyqxmd.com/read/28817202/perinatal-mortality-in-japanese-women-diagnosed-with-gestational-diabetes-mellitus-and-diabetes-mellitus
#1
Mamoru Morikawa, Takashi Sugiyama, Norimasa Sagawa, Yuji Hiramatsu, Hiroshi Ishikawa, Hiromi Hamada, Takashi Kameda, Emiko Hara, Shigeru Toda, Hisanori Minakami
AIMS: The objective of this study was to determine how many pregnant Japanese women with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal mortality in the presence of fetal anomalies. METHODS: Our investigation included data from 205 secondary/tertiary obstetric facilities located widely in Japan. The Japan Ministry of Health, Labour and Welfare Vital Statistics of Japan was used for comparison. RESULTS: Of 237 941 women giving birth at 205 hospitals, 1796 (0...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#2
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#3
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812462/severe-intrauterine-amputations-in-one-dichorionic-twin-with-pentalogy-of-cantrell-further-evidence-and-consideration-for-mechanical-teratogenesis
#4
Víctor M Salinas-Torres, Estivaliz A De La O-Espinoza, Rafael A Salinas-Torres
Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811816/unicornuate-uterus-with-a-rudimentary-horn-diagnosed-at-scheduled-third-cesarean-section
#5
Serkan Bodur, Ulas Fidan, Mehmet Ferdi Kinci, Kazim Emre Karasahin
A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of the Müllerian duct, estimated to occur in one in 76,000 pregnancies. Life threateningly heavy bleeding is a highly expected clinical consequence of such pregnancies. According to the known literature, only two living twins and few living singleton pregnancies have been reported up to now. Here we report on an incidentally diagnosed unicornuate uterus with a communicating rudimentary horn, found during a cesarean section of a gravida 3, parity 2 (G3 P2) patient...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#6
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28807863/prenatal-diagnosis-of-complex-phenotype-in-a-13-week-old-fetus-with-an-interstitial-multigene-deletion-20q13-13-q13-2-by-chromosomal-microarray
#7
Feodora Stipoljev, Danka Miric-Tesanic, Tomislav Hafner, Maja Barbalic, Monika Logara, Ruzica Lasan-Trcic, Ana Vicic, Romana Gjergja-Juraski
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#8
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805595/prenatal-diagnosis-of-congenital-lobar-fluid-overload
#9
REVIEW
Pei-Shan Tsai, Chih-Ping Chen, Dao Chen Lin, Yu-Peng Liu
Prenatal congenital lobar fluid overload (CLFO), which was first described by Ramsay and Byron, is identical to postnatal congenital lobar overinflation. It is characterized by progressive lobar overexpansion that compresses the other adjacent lung lobes. The underlying cause can be an intrinsic cartilaginous abnormality or an extrinsic airway compression. It may be associated with cardiovascular anomalies in 12%-14% of cases and affects males more frequently than females. Most cases are diagnosed postnatally, but early antenatal diagnosis and sequential follow-up are attempted for early treatment, if clinically indicated...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#10
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#11
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28793177/infants-with-prenatally-diagnosed-kidney-anomalies-have-an-increased-risk-of-urinary-tract-infections
#12
Maria Rasmussen, Lone Sunde, René Frydensbjerg Andersen, Olav Bjørn Petersen, Morten Smaerup Olsen
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 fetuses diagnosed with parenchymal kidney anomalies between 2007 and 2012 had previously been identified. These were compared with fetuses 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...
August 9, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28792608/an-exploration-of-co-parenting-in-the-context-of-caring-for-a-child-prenatally-diagnosed-and-born-with-a-complex-health-condition
#13
Anne Chevalier Mckechnie, Jamie Rogstad, Katherine M Martin, Karen F Pridham
AIM: To describe co-parenting communication in couples in the context of caregiving for children prenatally diagnosed and born with complex health conditions. BACKGROUND: Fetal diagnosis of complex health conditions such as heart, central nervous system, or abdominal anomalies are confirmed more often than ever before. Following diagnosis, parents face challenges beginning before birth. The quality of co-parenting, when two individuals relate to each other as parents and share parental responsibilities, can have an impact on child health and development...
August 9, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28783242/re-conceptualising-stillbirth-and-revisiting-birth-surveillance
#14
K S Joseph, Melanie Basso, Cheryl Davies, Lily Lee
The increased focus on stillbirth related issues in recent years has brought several previously neglected issues 'out of the shadows' [1] and highlighted the need for greater preventive efforts and better care for bereaved mothers and families. Some issues (such as the option of cesarean delivery for fetal death at late gestation [2], viewing the fetus following pregnancy termination for a fetal anomaly [3,4] and acknowledgement of paternal grief and anxiety [5]) reflect a substantial shift from previous traditions in clinical practice...
August 7, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28783113/-omics-in-human-colostrum-and-mature-milk-looking-to-old-data-with-new-eyes
#15
REVIEW
Flaminia Bardanzellu, Vassilios Fanos, Alessandra Reali
Human Milk (HM) is the best source for newborn nutrition until at least six months; it exerts anti-inflammatory and anti-infective functions, promotes immune system formation and supports organ development. Breastfeeding could also protect from obesity, diabetes and cardiovascular disease. Furthermore, human colostrum (HC) presents a peculiar role in newborn support as a protective effect against allergic and chronic diseases, in addition to long-term metabolic benefits. In this review, we discuss the recent literature regarding "omics" technologies and growth factors (GF) in HC and the effects of pasteurization on its composition...
August 7, 2017: Nutrients
https://www.readbyqxmd.com/read/28782198/postmortem-examination-of-human-fetuses-a-comparison-of-2-dimensional-ultrasound-with-invasive-autopsy
#16
Xin Kang, Susan C Shelmerdine, Ivan Hurtado, Elisa Bevilacqua, Ciaran Hutchinson, Uday Mandalia, Valerie Segers, Teresa Cos Sanchez, Mieke M Cannie, Andrew Carlin, Neil J Sebire, Owen J Arthurs, Jacques C Jani
OBJECTIVE: To compare the diagnostic usefulness of postmortem ultrasound with invasive autopsy in fetuses at different gestational ages. METHODS: We performed postmortem 2-dimensional ultrasound on 163 fetuses at 13-42 weeks gestation, blinded to clinical details. Logistic regression analysis was used to investigate the effect on non-diagnostic results of gestational age during postmortem ultrasound, presence of maceration, and cause of death. In 123 cases where invasive autopsy was available, the diagnostic accuracy of ultrasound in detecting major organ abnormalities was evaluated, using invasive autopsy as a gold standard...
August 7, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28777857/-application-of-chromosomal-karyotyping-analysis-and-array-cgh-for-fetal-abnormalities-detected-by-ultrasonography
#17
Yousheng Wang, Bin Tang, Li Guo, Hanbiao Chen, Jian Lu, Aihua Yin
OBJECTIVE: To assess the value of chromosomal karyotyping and array-based comparative genomic hybridization for the diagnosis of fetus with abnormalities detected by ultrasonography. METHODS: Umbilical cord blood samples were derived from 1 603 pregnant women. The samples were cultured for routine G-banding karyotype analysis. Among these, 792 samples have further subjected to array CGH analysis. RESULTS: Among the 1 603 fetuses, 117 (7.30%) were found with chromosomal abnormalities...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#18
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28768736/congenital-diaphragmatic-hernias-from-genes-to-mechanisms-to-therapies
#19
REVIEW
Gabrielle Kardon, Kate G Ackerman, David J McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K Chung
Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28763732/exposure-to-air-pollution-and-noise-from-road-traffic-and-risk-of-congenital-anomalies-in-the-danish-national-birth-cohort
#20
Marie Pedersen, Ester Garne, Nete Hansen-Nord, Dorrit Hjortebjerg, Matthias Ketzel, Ole Raaschou-Nielsen, Anne-Marie Nybo Andersen, Mette Sørensen
BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish National Birth Cohort with complete covariate data and residential address history from conception until birth, we identified major congenital anomalies in 4018 children. Nitrogen dioxide (NO2) and noise from road traffic (Lden) burden during fetal life was modeled...
July 29, 2017: Environmental Research
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