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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#1
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#2
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419508/experience-of-carrier-couples-identified-through-a-population-based-carrier-screening-pilot-program-for-four-founder-autosomal-recessive-diseases-in-saguenay-lac-saint-jean
#3
Jessica Tardif, Annabelle Pratte, Anne-Marie Laberge
A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada for four recessive diseases with local founder effects (tyrosinemia type I, ARSACS, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: Describe the experience of carrier couples identified through this program. METHODS: Semi-structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was done to identify emerging themes...
April 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#4
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA(cfDNA)-based non-invasive prenatal testing(NIPT) to cover the entire genome. We aimed to compare the performance of the two test in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12.114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#5
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: To compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419502/nuchal-translucency-measurement-free-%C3%AE-hcg-and-papp-a-concentrations-in-ivf-icsi-pregnancies-systematic-review-and-meta-analysis
#6
REVIEW
Paolo Cavoretto, Veronica Giorgione, Sonia Cipriani, Paola Viganò, Massimo Candiani, Annalisa Inversetti, Elena Ricci, Fabio Parazzini
So far data on the effect of assisted reproductive technologies (ART) on the components of first trimester combined screening for Down syndrome are still controversial. A systematic search of the literature was performed in order to identify the effect of ART, particularly IVF and ICSI with fresh embryo transfer, on the nuchal translucency (NT), free β-hCG and PAPP-A measurements. Moreover, a meta-analysis and a descriptive graphical representation of the ratios between ART and spontaneous pregnancies (controls) values of median of the multiple of median (m0MOM) was performed...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#7
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#8
Alexandros Sotiriadis, Ioannis Papoulidis, Elisavet Siomou, Elena Papageorgiou, Makarios Eleftheriades, Vasilios Papadopoulos, Maria Alexiou, Emmanouil Manolakos, Apostolos Athanasiadis
OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2,779 fetuses, which underwent invasive prenatal diagnosis and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47,XXX, 47,XYY and 47,XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS, were calculated...
April 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28384392/missed-opportunities-unidentified-genetic-risk-factors-in-prenatal-care
#9
Trissa McClatchey, Erica Lay, Melissa Strassberg, Ignatia B Van den Veyver
OBJECTIVE: Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. METHOD: We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling...
April 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28382695/discordant-non-invasive-prenatal-testing-nipt-a-systematic-review
#10
REVIEW
Tanja Schlaikjaer Hartwig, Louise Ambye, Steen Sørensen, Finn Stener Jørgensen
With a high sensitivity and specificity, NIPT is an incomparable screening test for fetal aneuploidy. However, the method is rather newly introduced and experiences with discordant results are few. We did a systematic review of literature reporting details of false positive and false negative NIPT results. Discordant sex chromosome results were not included. We identified 22 studies reporting case details. In total 206 discordant cases were included, of which 88% were false positive and 12% false negative. Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified...
April 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28374559/incorporating-thyroid-markers-in-down-syndrome-screening-protocols
#11
Ishraq Dhaifalah, Tomas Salek, Dagmar Langova, Howard Cuckle
OBJECTIVE: The article aimed to assess the benefit of incorporating maternal serum thyroid disease marker levels (thyroid-stimulating hormone and free thyroxine) into first trimester Down syndrome screening protocols. METHODS: Statistical modelling was used to predict performance with and without the thyroid markers. Two protocols were considered: the combined test and the contingent cell-free DNA (cfDNA) test, where 15-40% women are selected for cfDNA because of increased risk based on combined test results...
April 3, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28370263/fetal-left-sided-cardiac-structural-dimensions-in-left-sided-congenital-diaphragmatic-hernia-association-with-severity-and-impact-on-postnatal-outcomes
#12
Joshua Kailin, Gurpreet Dhillon, Shiraz Maskatia, Darrell Cass, Alireza Shamshirsaz, Amy Mehollin-Ray, Christopher Cassady, Nancy Ayres, Yunfei Wang, Michael Belfort, Oluyinka Olutoye, Rodrigo Ruano
OBJECTIVES: Fetuses with congenital diaphragmatic hernia (CDH) demonstrate varying degrees of left heart hypoplasia. Our study assesses the relationship between fetal left-sided cardiac structural dimensions, lung size, percentage liver herniation, lung-to-head ratio, postnatal left-sided cardiac structural dimensions, and postnatal outcomes. METHODS: We performed a retrospective cohort study of fetuses with left-sided CDH who had prenatal echocardiographic, ultrasound and MRI examinations at our institution between January 2007 and March 2015...
March 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28370255/clinical-applications-of-3d-volume-mr-imaging-of-the-fetal-brain-in-utero
#13
Deborah Jarvis, Paul D Griffiths
OBJECTIVE: In our earlier publication we described the methods of acquiring 3D volume MR data in second and third trimester fetuses and provided normative data from a large cohort of normal fetuses. In this paper we show the applicability of the technique by describing five fetuses with a range of developmental brain abnormalities. METHODS: The five cases described in this report all had an intra-cranial abnormality recognised on ante-natal ultrasonography, which precipitated referral for in utero MR imaging...
March 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28370151/outcome-of-isolated-enlarged-cisterna-magna-identified-in-utero-experience-at-a-single-medical-center-in-mainland-china
#14
Liu Zequn, Jin Han, Fu Fang, Juan Liu, Li Ru, Yang Xin, Pan Min, Zhen Li, Li Dongzhi, Liao Can
OBJECTIVE: To explore the effects of prenatal isolated enlarged cisterna magna (IECM) on postnatal development. METHODS: We followed up 123 fetuses with an enlarged cisterna magna (ECM), who were divided into IECM (Group 1) and non-IECM (ECM plus other anomalies, Group 2) groups, and compared with 60 normal infants with normal fetal ultrasound. We assessed infants postnatally using the Gesell Developmental Schedules. Fetal magnetic resonance imaging, karyotyping and chromosomal microarray analysis test were offered...
March 30, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#15
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/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#16
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next-generation sequencing-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/28342279/learning-effect-on-perinatal-post-mortem-magnetic-resonance-imaging-reporting-single-reporter-diagnostic-accuracy-of-200-cases
#17
Clare Ashwin, J Ciaran Hutchinson, Xin Kang, Dean Langan, Rod Jones, Wendy Norman, Mieke Cannie, Jacques Jani, Neil J Sebire, Owen J Arthurs
OBJECTIVES: To compare diagnostic accuracy of perinatal post mortem magnetic resonance imaging (PMMR) against conventional autopsy, when reported by a single blinded observer for all organ systems following a period of initial experience. METHODS: We compared pre-autopsy PMMR to conventional autopsy for the detection of: (a) major pathological abnormalities related to the cause of death; and (b) all diagnostic findings in five different body organ systems. PMMR was reported blinded to autopsy findings...
March 25, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#18
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#19
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/28317137/prenatal-sonographic-features-of-cranioectodermal-dysplasia
#20
T Muttusamy, A Ma, I Sinnerbrink, A E Quinton, M J Peek, S Joung
No abstract text is available yet for this article.
March 20, 2017: Prenatal Diagnosis
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