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Prenatal diagnosis

Wies Maarse, Chantal W B Boonacker, Henriette F N Swanenburg de Veye, Moshe Kon, Corstiaan C Breugem, Aebele B Mink van der Molen, Johannes J M van Delden
OBJECTIVES: The prenatal diagnosis of oral clefts (OCs) by ultrasound can pose an ethical dilemma. The purpose of this study was to obtain insight into the psychosocial and moral considerations of prospective parents concerning OCs, the burden of OCs and parents' attitude toward possible termination of pregnancy (TOP) in order to improve counseling in the future. DESIGN: Between August 2011 and August 2014, a prospective cohort questionnaire study was administered...
January 1, 2018: Cleft Palate-craniofacial Journal
Robert F Pass, Ravit Arav-Boger
Congenital cytomegalovirus infection is a major cause of central nervous system and sensory impairments that affect cognition, motor function, hearing, language development, vestibular function, and vision. Although the importance of congenital cytomegalovirus infection is readily evident, the vast majority of maternal and fetal infections are not identified, even in developed countries. Multiple studies of prenatal cytomegalovirus infections have produced a body of knowledge that can inform the clinical approach to suspected or proven maternal and fetal infection...
2018: F1000Research
F Munell, M A Tormos, M Roig-Quilis
Brainstem dysgenesis designates all those patients with congenital dysfunction of cranial nerves and muscle tone due to prenatal lesions or malformations of the brainstem. This generic term has the advantage over the eponyms Moebius 'expanded' or 'unrestricted', Robin, Cogan or Carey-Fineman-Ziter syndromes in that it has a less restrictive view and provides a frame work that enables a systematic approach to diagnosis and research of most developmental disorders involving the brainstem. The review of the literature and our experience shows that infants with a predominant rombencephalic involvement are due to brainstem prenatal disruptive vascular accidents, while cases with midbrain and cerebellar involvement and widespread malformative syndromes have most likely an underlying genetic cause...
April 1, 2018: Revista de Neurologia
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, Séverine Ruet, Cécile Pagan, David Cheillan, Philippe Latour, Christine Vianey-Saban, Christiane Auray-Blais, Roseline Froissart
Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of lysosomal storage disorders (LSDs) and how MS/MS has changed the diagnostic rationale in recent years. This fine technology brings more sensitive, specific, and reliable methods than the previous biochemical ones for the analysis of urinary glycosaminoglycans, oligosaccharides, and sialic acid...
March 19, 2018: Journal of Inherited Metabolic Disease
Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H Mete Tanir
This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Chitra Andrew, Teena Koshy, Shivani Gopal, Solomon Franklin Durairaj Paul
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Ashley Howard, John Visintine, Jaime Fergie, Miguel Deleon
Since 2007, Zika virus has spread through the Pacific Islands and the Americas. Beginning in 2016, women in Brownsville, Texas, USA, were identified as possibly being exposed to Zika virus during pregnancy. We identified 18 pregnant women during 2016-2017 who had supportive serologic or molecular test results indicating Zika virus or flavivirus infection. Two infants were evaluated for congenital Zika syndrome after identification of prenatal microcephaly. Despite standard of care testing of mothers and neonates, comparative results were unreliable for mothers and infants, which highlights the need for clinical and epidemiologic evidence for an accurate diagnosis...
April 2018: Emerging Infectious Diseases
Teresa Victoria, Savvas Andronikou, Diana Bowen, Pablo Laje, Dana A Weiss, Ann M Johnson, William H Peranteau, Douglas A Canning, N Scott Adzick
Abdominal wall defects range from the mild umbilical cord hernia to the highly complex limb-body wall syndrome. The most common defects are gastroschisis and omphalocele, and the rarer ones include the exstrophy complex, pentalogy of Cantrell and limb-body wall syndrome. Although all have a common feature of viscera herniation through a defect in the anterior body wall, their imaging features and, more important, postnatal management, differ widely. Correct diagnosis of each entity is imperative in order to achieve appropriate and accurate prenatal counseling and postnatal management...
April 2018: Pediatric Radiology
Jessie P Buckley, Lesliam Quirós-Alcalá, Susan L Teitelbaum, Antonia M Calafat, Mary S Wolff, Stephanie M Engel
BACKGROUND: Prenatal environmental phenol and phthalate exposures may alter immune or inflammatory responses leading to respiratory and allergic disease. OBJECTIVES: We estimated associations of prenatal environmental phenol and phthalate biomarkers with respiratory and allergic outcomes among children in the Mount Sinai Children's Environmental Health Study. METHODS: We quantified urinary biomarkers of benzophenone-3, bisphenol A, paradichlorobenzene (as 2,5-dichlorophenol), triclosan, and 10 phthalate metabolites in third trimester maternal samples and assessed asthma, wheeze, and atopic skin conditions via parent questionnaires at ages 6 and 7 years (n = 164 children with 240 observations)...
March 15, 2018: Environment International
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Miguel Del Campo, Marilyn C Jones, David P Dimmock, Stephen F Kingsmore, Rcigm Investigators
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2...
March 16, 2018: Cold Spring Harbor Molecular Case Studies
Fedro Alessandro Peccatori, Matteo Lambertini, Giovanna Scarfone, Lino Del Pup, Giovanni Codacci-Pisanelli
Breast cancer is one of the most frequently diagnosed malignancies during pregnancy. Here, we review the management of women with breast cancer during pregnancy (BCP), focusing on biology, diagnosis and staging, local and systemic treatments, obstetric care and long-term follow-up of children with prenatal exposure to anticancer treatments.
February 2018: Cancer Biology & Medicine
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Beth M Kline-Fath, Arnold C Merrow, Maria A Calvo-Garcia, Usha D Nagaraj, Howard M Saal
Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex...
March 14, 2018: Pediatric Radiology
Yan Hao, Dawei Chen, Zhiguo Zhang, Ping Zhou, Yunxia Cao, Zhaolian Wei, Xiaofeng Xu, Beili Chen, Weiwei Zou, Mingrong Lv, Dongmei Ji, Xiaojin He
Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...
April 2018: Oncology Letters
Juliet Chhay Bishop, Karin Blakemore, Luca Vricella, Priya Sekar, Katelynn Sagaser, Jude Crino, Paul Ness, Benjamin K Kogutt, Joan Boyd, Susan Aucott, Angie C Jelin, Joanne Chiu, Eric Gehrie, Kristen Nelson McMillan
Compared to standard component therapy, fresh whole blood (FWB) offers potential benefits to neonates undergoing cardiopulmonary bypass (CPB) in the context of open cardiac surgery: decreased blood loss and subsequent risk of volume overload, improved coagulation status, higher platelet counts during and following CPB, circumvention of limited vascular access, and significantly reduced donor exposures. Obtaining FWB, however, entails 2-5 days of preparation, which often precludes its availability for neonates requiring CPB in the immediate newborn period...
March 14, 2018: Fetal Diagnosis and Therapy
Daisy Oliveira Costa, Fabíola Isabel Suano de Souza, Glaura César Pedroso, Maria Wany Louzada Strufaldi
This study aimed to determine the presence and association of possible mental disorders diagnoses in primary care pregnant women and newborns' conditions. This is a longitudinal study with pregnant women (18-39 years), in the second and third trimesters of pregnancy, attended at primary care facilities in the metropolitan region of São Paulo (February to August/2014). The following tools were used: sociodemographic questionnaire; Mental Disorders in Primary Care Assessment tool; and an interview with information and mother´s perception of the behavior of newborns...
March 2018: Ciência & Saúde Coletiva
Elizabeth Hisle-Gorman, Apryl Susi, Theophil Stokes, Gregory Gorman, Christine Erdie-Lalena, Cade M Nylund
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame...
March 14, 2018: Pediatric Research
Karine Sahakyan, Melissa R Spevak, Harvey A Ziessman, Michael A Gorin, Steven P Rowe
The "drooping lily" sign is identified on intravenous urography or voiding cystourethrography in patients with a duplicated renal collecting system and refers to inferolateral displacement of a functioning lower pole moiety by an obstructed upper pole collecting system. In this case, a 2-month-old girl with a prenatal diagnosis of hydronephrosis was found to have a "scintigraphic drooping lily" sign on Tc-dimercaptosuccinic acid renal scan. Evaluation with ultrasound and voiding cystourethrography confirmed a duplicated collecting system and obstructed upper pole moiety...
March 13, 2018: Clinical Nuclear Medicine
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March 14, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
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