Literature DB >> 29747729

Maternal Genetic Disorders in Pregnancy.

Sarah Harris1, Neeta L Vora2.   

Abstract

The life expectancy and quality of life of women with genetic disorders continues to improve, resulting in more women reaching reproductive age and desiring fertility. It is becoming increasingly important that obstetricians become familiar with common genetic disorders and their associated risks in pregnancy. The authors review pregnancy in women with various genetic disorders, including review of pregnancy outcomes, management recommendations, and genetic risk assessment. Most data on pregnancies in women with genetic conditions are based on case reports and literature reviews. Additional studies, including pregnancy registries, are needed to improve our understanding and care of this patient population.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Genetic disorders; Hereditary hemorrhagic telangiectasia; Management; Myotonic dystrophy; Ornithine transcarbamoylase deficiency; Pregnancy; Tuberous sclerosis

Mesh：

Year:  2018        PMID： 29747729      PMCID： PMC5966822          DOI： 10.1016/j.ogc.2018.01.010

Source DB:  PubMed          Journal:  Obstet Gynecol Clin North Am        ISSN： 0889-8545            Impact factor:   2.844


  53 in total

Review 1.  Management of ornithine transcarbamylase deficiency in pregnancy.

Authors:  Hector Mendez-Figueroa; Kerri Lamance; V Reid Sutton; Kjersti Aagaard-Tillery; Ignatia Van den Veyver
Journal:  Am J Perinatol       Date:  2010-05-10       Impact factor: 1.862

2.  A series of pregnancies in women with inherited metabolic disease.

Authors:  Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy
Journal:  J Inherit Metab Dis       Date:  2011-09-15       Impact factor: 4.982

Review 3.  Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Authors:  Ljubica Caldovic; Iman Abdikarim; Sahas Narain; Mendel Tuchman; Hiroki Morizono
Journal:  J Genet Genomics       Date:  2015-05-19       Impact factor: 4.275

4.  Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

Authors:  B A McCullough; M Yudkoff; M L Batshaw; J M Wilson; S E Raper; M Tuchman
Journal:  Am J Med Genet       Date:  2000-08-14

Review 5.  Obstetric care in women with genetic disorders.

Authors:  Shilpa Chetty; Mary E Norton
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2017-03-18       Impact factor: 5.237

6.  Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications.

Authors:  Stephanie Lamb; Christina Yi Ling Aye; Elaine Murphy; Lucy Mackillop
Journal:  BMJ Case Rep       Date:  2013-01-02

Review 7.  Pregnancy in women with inherited metabolic disease.

Authors:  Elaine Murphy
Journal:  Obstet Med       Date:  2015-03-29

8.  Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Authors:  Darcy A Krueger; Hope Northrup
Journal:  Pediatr Neurol       Date:  2013-10       Impact factor: 3.372

9.  CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Authors:  Lise Barbé; Stella Lanni; Arturo López-Castel; Silvie Franck; Claudia Spits; Kathelijn Keymolen; Sara Seneca; Stephanie Tomé; Ioana Miron; Julie Letourneau; Minggao Liang; Sanaa Choufani; Rosanna Weksberg; Michael D Wilson; Zdenek Sedlacek; Cynthia Gagnon; Zuzana Musova; David Chitayat; Patrick Shannon; Jean Mathieu; Karen Sermon; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

10.  BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Authors:  Whitney L Wooderchak-Donahue; Jamie McDonald; Brendan O'Fallon; Paul D Upton; Wei Li; Beth L Roman; Sarah Young; Parker Plant; Gyula T Fülöp; Carmen Langa; Nicholas W Morrell; Luisa M Botella; Carmelo Bernabeu; David A Stevenson; James R Runo; Pinar Bayrak-Toydemir
Journal:  Am J Hum Genet       Date:  2013-08-22       Impact factor: 11.025
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  2 in total

1.  Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.

Authors:  Lingshan Gou; Yuan Fang; Na Wang; Man Zhang; Tianya Liu; Yi Wang; Shunan Hu; Yan Zhang; Qin Wu; Yifan Wang; Feng Suo; Maosheng Gu
Journal:  J Int Med Res       Date:  2020-11       Impact factor: 1.671

2.  Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline.

Authors:  D T Greenblatt; E Pillay; K Snelson; R Saad; M Torres Pradilla; S Widhiati; A Diem; C Knight; K Thompson; N Azzopardi; M Werkentoft; Z Moore; D Patton; K M Mayre-Chilton; D F Murrell; J E Mellerio
Journal:  Br J Dermatol       Date:  2021-11-25       Impact factor: 11.113
  2 in total

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