Literature DB >> 24333205

A historical and practical review of first trimester aneuploidy screening.

Melissa L Russo1, Karin J Blakemore2.   

Abstract

There have been tremendous advancements over the past three decades in prenatal screening for aneuploidy and we have changed our practice from screening by maternal age alone to 'combined' first trimester screening and circulating cell-free fetal DNA. We currently use the nuchal translucency and biochemical markers of free β-hCG and PAPP-A to determine the risk of fetal aneuploidy. The primary goal is to identify higher risk women for fetal aneuploidy early in pregnancy and give them the option to pursue invasive testing in a timely manner if desired.
Copyright © 2013 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Aneuploidy; First trimester screening; Free β-human chorionic gonadotropin; Maternal serum screening tests; Nuchal translucency measurement; Pregnancy-associated plasma protein A

Mesh：

Year:  2013        PMID： 24333205      PMCID： PMC6596981          DOI： 10.1016/j.siny.2013.11.013

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN： 1744-165X            Impact factor:   3.926


  44 in total

1.  First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency.

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Journal:  Obstet Gynecol       Date:  2000-08       Impact factor: 7.661

2.  Free beta-hCG as first-trimester marker for fetal trisomy.

Authors:  K Spencer; J N Macri; D A Aitken; J M Connor
Journal:  Lancet       Date:  1992-06-13       Impact factor: 79.321

3.  First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down's syndrome.

Authors:  N Wald; R Stone; H S Cuckle; J G Grudzinskas; G Barkai; B Brambati; B Teisner; W Fuhrmann
Journal:  BMJ       Date:  1992-07-04

4.  [Demonstration of fetal hemoglobin in erythrocytes of a blood smear].

Authors:  E KLEIHAUER; H BRAUN; K BETKE
Journal:  Klin Wochenschr       Date:  1957-06-15

5.  Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks.

Authors:  Simona Cicero; Renu Bindra; Georgios Rembouskos; Kevin Spencer; Kypros H Nicolaides
Journal:  Prenat Diagn       Date:  2003-04       Impact factor: 3.050

6.  Integrated screening for Down's syndrome based on tests performed during the first and second trimesters.

Authors:  N J Wald; H C Watt; A K Hackshaw
Journal:  N Engl J Med       Date:  1999-08-12       Impact factor: 91.245

7.  A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A.

Authors:  K Spencer; V Souter; N Tul; R Snijders; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  1999-04       Impact factor: 7.299

8.  Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study.

Authors:  D W Bianchi; J L Simpson; L G Jackson; S Elias; W Holzgreve; M I Evans; K A Dukes; L M Sullivan; K W Klinger; F Z Bischoff; S Hahn; K L Johnson; D Lewis; R J Wapner; F de la Cruz
Journal:  Prenat Diagn       Date:  2002-07       Impact factor: 3.050

9.  Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Authors:  K H Nicolaides; G Azar; D Byrne; C Mansur; K Marks
Journal:  BMJ       Date:  1992-04-04

10.  First-trimester screening for trisomies 21 and 18.

Authors:  Ronald Wapner; Elizabeth Thom; Joe Leigh Simpson; Eugene Pergament; Richard Silver; Karen Filkins; Lawrence Platt; Maurice Mahoney; Anthony Johnson; W Allen Hogge; R Douglas Wilson; Patrick Mohide; Douglas Hershey; David Krantz; Julia Zachary; Rosalinde Snijders; Naomi Greene; Rudy Sabbagha; Scott MacGregor; Lyndon Hill; Alain Gagnon; Terrence Hallahan; Laird Jackson
Journal:  N Engl J Med       Date:  2003-10-09       Impact factor: 91.245
View more
  10 in total

1.  Trisomy 18 syndrome: Towards a balanced approach.

Authors:  Hassan Batees; Khalid A Altirkawi
Journal:  Sudan J Paediatr       Date:  2014

Review 2.  First trimester screening for pre-eclampsia.

Authors:  Stefan C Kane
Journal:  Obstet Med       Date:  2016-05-14

3.  Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India.

Authors:  Ishwar Chander Verma; Ratna Puri; Eswarachary Venkataswamy; Tulika Tayal; Sheela Nampoorthiri; Chitra Andrew; Madhulika Kabra; Rashmi Bagga; Mamatha Gowda; Meenu Batra; Sridevi Hegde; Anita Kaul; Neerja Gupta; Pallavi Mishra; Jayshree Ganapathi Subramanian; Shruti Lingaiah; Riyaz Akhtar; Francis Kidangan; R Chandran; C Kiran; G R Ravi Kumar; V L Ramprasad; Priya Kadam
Journal:  J Obstet Gynaecol India       Date:  2018-01-25

Review 4.  Non-invasive prenatal testing: a review of international implementation and challenges.

Authors:  Megan Allyse; Mollie A Minear; Elisa Berson; Shilpa Sridhar; Margaret Rote; Anthony Hung; Subhashini Chandrasekharan
Journal:  Int J Womens Health       Date:  2015-01-16

5.  Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing.

Authors:  Jing Wang; Lin Chen; Cong Zhou; Li Wang; Hanbing Xie; Yuanyuan Xiao; Daishu Yin; Yang Zeng; Feng Tang; Yunyuan Yang; Hongmei Zhu; Xinlian Chen; Qian Zhu; Zhiying Liu; Hongqian Liu
Journal:  Sci Rep       Date:  2018-05-25       Impact factor: 4.379

6.  Developing a perinatal palliative care service package for women with fetal anomaly diagnosis: protocol for mixed methods study.

Authors:  Ziba Raisi Dehkordi; Shahnaz Kohan; Maryam Rassouli; Elahe Zarean; Azadeh Malekian
Journal:  Reprod Health       Date:  2020-03-04       Impact factor: 3.223

7.  Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.

Authors:  Andrew P Dervan; Patricia A Deverka; Julia R Trosman; Christine B Weldon; Michael P Douglas; Kathryn A Phillips
Journal:  Genet Med       Date:  2016-09-22       Impact factor: 8.822

8.  Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.

Authors:  Yipeng Wang; Shanshan Li; Wei Wang; Yuan Dong; Meng Zhang; Xin Wang; Chenghong Yin
Journal:  Mol Cytogenet       Date:  2020-03-12       Impact factor: 2.009

9.  Is routine prenatal screening and testing fundamentally incompatible with a commitment to reproductive choice? Learning from the historical context.

Authors:  Panagiota Nakou
Journal:  Med Health Care Philos       Date:  2020-10-30

10.  Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.

Authors:  Cristina Gug; Ioana Mozos; Adrian Ratiu; Anca Tudor; Eusebiu Vlad Gorduza; Lavinia Caba; Miruna Gug; Catalina Cojocariu; Cristian Furau; Gheorghe Furau; Monica Adriana Vaida; Dorina Stoicanescu
Journal:  Medicina (Kaunas)       Date:  2022-01-05       Impact factor: 2.430
  10 in total

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