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Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study

Journal Article · · American Journal of Obstetrics and Gynecology
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Not Available
Sponsoring Organization:
USDOE
OSTI ID:
2279236
Journal Information:
American Journal of Obstetrics and Gynecology, Journal Name: American Journal of Obstetrics and Gynecology Journal Issue: 5 Vol. 224; ISSN 0002-9378
Publisher:
ElsevierCopyright Statement
Country of Publication:
United States
Language:
English

References (34)

The second trimester genetic sonogram
  • Breathnach, Fionnuala M.; Fleming, Ann; Malone, Fergal D.
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. 145C, Issue 1 https://doi.org/10.1002/ajmg.c.30116
journal February 2007
Uniparental disomy and human disease: An overview
  • Yamazawa, Kazuki; Ogata, Tsutomu; Ferguson‐Smith, Anne C.
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Vol. 154C, Issue 3 https://doi.org/10.1002/ajmg.c.30270
journal August 2010
Shortened fetal long bones: a possible in utero manifestation of placental function journal May 2002
Aberrant right subclavian artery (ARSA) in unselected population at first and second trimester ultrasonography journal July 2012
Fetal isolated short femur in the second trimester and adverse pregnancy outcomes journal August 2013
Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system journal September 2019
Meta‐analysis of second‐trimester markers for trisomy 21 journal January 2013
ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis journal August 2016
Nasal bone hypoplasia in trisomy 21 at 15–22 weeks' gestation journal December 2002
Fetal aberrant right subclavian artery in normal and Down syndrome fetuses journal December 2007
Outcome of fetuses with antenatally diagnosed short femur journal February 2008
Association of isolated short femur in the mid‐trimester fetus with perinatal outcome journal April 2008
Use of Z‐scores to select a fetal biometric reference curve journal September 2009
Aberrant right subclavian artery at 16 to 23 + 6 weeks of gestation: a marker for chromosomal abnormality journal May 2010
Practice guidelines for performance of the routine mid‐trimester fetal ultrasound scan journal December 2010
Second‐trimester soft markers: relation to first‐trimester nuchal translucency in unaffected pregnancies journal February 2012
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia journal July 1994
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching journal June 2001
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies journal May 2010
Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome journal January 2005
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome journal August 2011
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia journal September 1994
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) journal February 2020
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements journal May 2006
The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study journal March 2001
Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan? journal May 2011
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis journal December 2012
The clinical significance of fetal echogenic bowel journal November 2001
Aneuploidy Screening in Pregnancy journal July 2016
Role of Second-Trimester Genetic Sonography After Down Syndrome Screening journal December 2009
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities journal November 2010
Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women journal December 2017
Isolated Short Fetal Femur Length in the Second Trimester and the Association with Adverse Perinatal Outcome: Experiences from a Tertiary Referral Center journal June 2015
Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. journal October 2001

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