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https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#1
Carole Samango-Sprouse, Colleen Keen, Teresa Sadeghin, Andrea Gropman
OBJECTIVE: The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY, and investigate potential risks and benefits of prenatal identification. METHOD: A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques. RESULTS: As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28345754/second-to-fourth-digit-ratio-2d-4d-is-unrelated-to-measures-of-somatic-reproductive-effort-among-young-men-from-cebu-the-philippines
#2
Alexander V Georgiev, Calen P Ryan, Lee T Gettler, Thomas W McDade, Christopher W Kuzawa
OBJECTIVES: A low second-to-fourth (2D:4D) digit ratio, a retrospective marker of high prenatal androgens, predicts increased investment in costly sexually dimorphic traits in men in some studies, although results are mixed. Here we test the hypothesis that the association of low 2D:4D ratios with increased muscularity and decreased adiposity depends on current testosterone (T) levels, such that digit ratio will be a particularly strong predictor of outcomes among men exhibiting a mating-effort-oriented endocrinological profile (high T)...
March 27, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#3
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next generation sequencing (NGS)-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history and the physical examination is only indirectly available via prenatal sonography...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#4
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28342231/exploring-the-hypothesis-of-differential-care-for-african-immigrant-and-native-women-in-france-with-hypertensive-disorders-during-pregnancy-a-qualitative-study
#5
Priscille Sauvegrain, Elie Azria, Coralie Chiesa-Dubruille, Catherine Deneux-Tharaux
OBJECTIVE: To analyse whether prenatal care trajectories among women with hypertensive disorders during pregnancy in France differ between immigrants from sub-Saharan Africa (SSA) and native French women. DESIGN: Qualitative interview study. SETTING: Three public maternity units in the Paris region. POPULATION: Women born in SSA or in France of French parents and treated for hypertension or preeclampsia during their pregnancy...
March 25, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28340467/the-clinical-use-of-chromosomal-microarray-analysis-in-detection-of-fetal-chromosomal-rearrangements-a-study-from-china-mainland
#6
Yi Wu, Yanlin Wang, Jiong Tao, Xu Han, Xinrong Zhao, Chunmin Liu, Li Gao, Weiwei Cheng
OBJECTIVES: This study aimed to evaluate the detection rate of chromosomal microarray analysis (CMA) in prenatal fetuses compared with conventional karyotype and to assess the additional diagnostic yields of CMA in groups of different indications. STUDY DESIGN: A total of 217 fetuses were divided into seven groups according to different indications. All cases were tested by both CMA and karyotype. The detection rates of CMA and karyotype were evaluated. The increased value of CMA in each group was also calculated...
March 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#7
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28332875/the-biologic-basis-of-transgender-identity-2d-4d-finger-length-ratios-implicate-a-role-for-prenatal-androgen-activity
#8
Matthew Leinung, Christina Wu
Objective The biologic basis for gender identity is unknown. Research has shown that the ratio of the length of the second and fourth digits (2D:4D) in mammals is influenced by gender in utero, but data on 2D:4D ratios in transgender individuals are scarce and contradictory. We sought an association with 2D:4D ratio and gender identity in our transgender clinic population in Albany, NY. Methods We prospectively recruited 118 transgender subjects undergoing hormonal therapy (50 female to male (FTM) and 68 male to female (MTF) for finger length measurement...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28332324/randomized-controlled-trial-of-an-early-child-obesity-prevention-intervention-impacts-on-infant-tummy-time
#9
Rachel S Gross, Alan L Mendelsohn, H Shonna Yin, Suzy Tomopoulos, Michelle B Gross, Roberta Scheinmann, Mary Jo Messito
OBJECTIVE: To describe infant activity at 3 months old and to test the efficacy of a primary care-based child obesity prevention intervention on promoting infant activity in low-income Hispanic families. METHODS: This study was a randomized controlled trial (n = 533) comparing a control group of mother-infant dyads receiving standard prenatal and pediatric primary care with an intervention group receiving "Starting Early," with individual nutrition counseling and nutrition and parenting support groups coordinated with prenatal and pediatric visits...
March 22, 2017: Obesity
https://www.readbyqxmd.com/read/28332077/a-qualitative-study-to-explore-the-views-and-attitudes-towards-prenatal-testing-in-adults-who-have-muenke-syndrome-and-their-partners
#10
Julie Phipps, Heather Skirton
Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation...
March 22, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28329103/pregnancy-at-advanced-maternal-age-affects-behavior-and-hippocampal-gene-expression-in-mouse-offspring
#11
Silvestre Sampino, Adrian Mateusz Stankiewicz, Federica Zacchini, Joanna Goscik, Agnieszka Szostak, Artur Hugo Swiergiel, Gaspare Drago, Jacek Andrzej Modlinski, Grazyna Ewa Ptak
There is growing evidence that advanced maternal age is a risk factor for neurological and neuropsychiatric disorders in offspring. However, it remains unclear whether the altered brain programming induced by advanced maternal age is mediated by pre- or postnatal factors. Here, a mouse model was used to investigate whether pregnancy at advanced age may provoke behavioral and brain gene expression changes in offspring. Swiss Albino mice conceived by 3-month-old males and either 15-18-month-old (n = 11) or 3-month-old control females (n = 5), were delivered by cesarean section, fostered after birth by 3-month-old dams and subjected to a battery of behavioral tests...
February 22, 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28327448/prenatal-tobacco-exposure-birthweight-and-offspring-psychopathology
#12
Ardesheer Talati, Priya J Wickramaratne, Rikke Wesselhoeft, Myrna M Weissman
Although prenatal tobacco exposure (PTE) is associated with several adverse offspring mental health outcomes, mechanisms remain unclear. We test whether associations between PTE and offspring psychopathology are explained by birthweight, one of the earliest-occurring outcomes of PTE. The analysis focuses on 238 offspring from a family study of depression with (1) collected prenatal histories and (2) at least one clinical interview in adulthood to assess psychiatric problems. Exposure was categorized by maternal smoking of ≥10 cigarettes daily/nearly daily; diagnostic outcomes were confirmed by clinicians using the best-estimate procedure, blind to exposure...
March 8, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28326570/reproductive-disorders-in-female-rats-after-prenatal-exposure-to-betamethasone
#13
Cibele S Borges, Tainá L Pacheco, Marina T Guerra, Aline L Barros, Patricia V Silva, Gabriela Missassi, Katiussia Pinho da Silva, Janete A Anselmo-Franci, André S Pupo, Wilma De G Kempinas
Betamethasone is the drug of choice for antenatal treatment, promoting fetal lung maturation and decreasing mortality. Previous studies in rats reported male programming and alteration in sperm parameters and sexual behavior following intrauterine betamethasone exposure. The impact on the female reproductive development is not known. In this study, rat female offspring was assessed for sexual development, morphophysiology of the reproductive tract and fertility after maternal exposure to 0.1 mg kg(-1) of betamethasone or vehicle on gestational days 12, 13, 18 and 19...
March 21, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#14
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28325913/persistent-dna-methylation-changes-associated-with-prenatal-mercury-exposure-and-cognitive-performance-during-childhood
#15
Andres Cardenas, Sheryl L Rifas-Shiman, Golareh Agha, Marie-France Hivert, Augusto A Litonjua, Dawn L DeMeo, Xihong Lin, Chitra J Amarasiriwardena, Emily Oken, Matthew W Gillman, Andrea A Baccarelli
Prenatal exposure to mercury, a known neurotoxic metal, is associated with lower cognitive performance during childhood. Disruption of fetal epigenetic programming could explain mercury's neurodevelopmental effects. We screened for epigenome-wide methylation differences associated with maternal prenatal blood mercury levels in 321 cord blood DNA samples and examined the persistence of these alterations during early (n = 75; 2.9-4.9 years) and mid-childhood (n = 291; 6.7-10.5 years). Among males, prenatal mercury levels were associated with lower regional cord blood DNA methylation at the Paraoxonase 1 gene (PON1) that persisted in early childhood and was attenuated in mid-childhood blood...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324861/behavioral-improvements-in-a-valproic-acid-rat-model-of-autism-following-vitamin-d-supplementation
#16
Lin Du, Guolian Zhao, Zipeng Duan, Fan Li
The aim was to identify the effects of early vitamin D supplementation on autism-like behaviors (ASD) induced by valproic acid (VPA, an anti-convulsant and a mood stabilizer) in rats. 10 male Wistar rat pups with prenatal exposure to saline were in control group, and 20 Pups with prenatal exposure to VPA were divided into ASD-N (0.9% saline treated) and ASD-D group (vitamin D 80,000 IU/kg treated) on postnatal day 12. Self-grooming, olfactory habituation/dishabituation, and social interaction tests were conducted to assess social interaction, communication, and repetitive behaviors...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28324192/the-presence-of-human-papillomavirus-hpv-in-placenta-and-or-cord-blood-might-result-in-th2-polarization
#17
H-M Koskimaa, A Paaso, M J P Welters, S Grénman, K Syrjänen, S H van der Burg, S Syrjänen
The purpose of this study was to evaluate if an early exposure to human papillomavirus (HPV) during the prenatal period or infancy could result in HPV16-specific T helper (Th) responses resembling those of adults with HPV-induced lesions. We tested HPV16-specific cell-mediated immunity (CMI) in children born with HPV-positive umbilical cord blood and/or placenta or having persistent oral HPV infection and in constantly oral HPV-negative controls. Peripheral blood mononuclear cells from 33 children from the Finnish HPV Family Study cohort (mean age 14...
March 21, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28324068/bisphenol-a-exposure-ovarian-follicle-numbers-and-female-sex-steroid-hormone-levels-results-from-a-clarity-bpa-study
#18
Shreya Patel, Emily Brehm, Liying Gao, Saniya Rattan, Ayelet Ziv-Gal, Jodi A Flaws
Bisphenol A (BPA) is an industrial chemical found in thermal receipts, and food and beverage containers. Previous studies have shown that BPA can affect the numbers and health of ovarian follicles and the production of sex steroid hormones, but they often did not include a wide-range of doses of BPA, used a small sample size, focused on relatively short-term exposures to BPA, and/or did not examine the consequences of chronic BPA exposure on the ovaries or steroid levels. Thus, this study was designed to examine the effects of a wide range of doses of BPA on ovarian morphology and sex steroid hormone production...
March 16, 2017: Endocrinology
https://www.readbyqxmd.com/read/28322126/prenatal-exposure-to-nanosized-zinc-oxide-in-rats-neurotoxicity-and-postnatal-impaired-learning-and-memory-ability
#19
Feng Xiaoli, Wu Junrong, Lai Xuan, Zhang Yanli, Wei Limin, Liu Jia, Shao Longquan
AIM: To examine the neurotoxicity of prenatal exposure to ZnO nanoparticles on rat offspring. MATERIALS & METHODS: Pregnant Sprague-Dawley rats were exposed to ZnO nanoparticles (NPs) by gavage. Toxicity was assessed including zinc biodistribution, cerebral histopathology, antioxidant status and learning and memory capability. RESULTS: A significantly elevated concentration of zinc was detected in offspring brains. Transmission electron microscope observations showed abnormal neuron ultrastructures...
March 21, 2017: Nanomedicine
https://www.readbyqxmd.com/read/28322014/carbohydrate-intake-during-early-pregnancy-is-inversely-associated-with-abnormal-glucose-challenge-test-results-in-japanese-pregnant-women
#20
Ryoko Tajima, Yoko Yachi, Yasuhiro Tanaka, Yui Anasako Kawasaki, Izumi Nishibata, Ayumi Sugawara Hirose, Chika Horikawa, Satoru Kodama, Kaoruko Iida, Hirohito Sone
BACKGROUND: In East Asian countries, which have a high prevalence of underweight individuals, there is little information about the association between dietary factors and abnormal glucose tolerance during pregnancy. We examined the association between carbohydrate intake and moderately abnormal glucose tolerance in Japanese pregnant women. METHODS: We conducted a prospective study on 325 Japanese pregnant women without a diagnosis of diabetes mellitus prior to pregnancy...
March 20, 2017: Diabetes/metabolism Research and Reviews
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