Literature DB >> 23181174

A case of triploidy detected by crosstrimester test.

Paolo Guanciali-Franchi1, Irene Iezzi, Barbara Matarrelli, Elisena Morizio, Giuseppe Calabrese, Giandomenico Palka.   

Abstract

A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.Here we report a case of digynic triploidy, which resulted from fertilization of a diploid ovum by a single sperm.

Entities:  

Keywords:  amniocentesis; maternal serum screening; prenatal diagnosis; triploidy

Year:  2012        PMID： 23181174      PMCID： PMC3503519     

Source DB:  PubMed          Journal:  J Prenat Med        ISSN： 1971-3282


  10 in total

Review 1.  Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement.

Authors:  P A Benn; A Gainey; C J Ingardia; J F Rodis; J F Egan
Journal:  Prenat Diagn       Date:  2001-08       Impact factor: 3.050

2.  Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis.

Authors:  Paolo Guanciali-Franchi; Irene Iezzi; Barbara Matarrelli; Elisena Morizio; Giuseppe Calabrese; Giandomenico Palka
Journal:  Prenat Diagn       Date:  2010-08       Impact factor: 3.050

3.  Screening for triploidy by the risk algorithms for trisomies 21, 18 and 13 at 11 weeks to 13 weeks and 6 days of gestation.

Authors:  Karl O Kagan; James M Anderson; Gabriel Anwandter; Katya Neksasova; Kypros H Nicolaides
Journal:  Prenat Diagn       Date:  2008-12       Impact factor: 3.050

4.  Maternal serum-integrated screening for trisomy 18 using both first- and second-trimester markers.

Authors:  Glenn E Palomaki; Louis M Neveux; George J Knight; James E Haddow
Journal:  Prenat Diagn       Date:  2003-03       Impact factor: 3.050

5.  Triploidy identified through second-trimester serum screening.

Authors:  Tianhua Huang; Eva Alberman; Nicholas Wald; Anne M Summers
Journal:  Prenat Diagn       Date:  2005-03       Impact factor: 3.050

6.  Maternal age and gestational age-specific risk for chromosomal defects.

Authors:  R J Snijders; N J Sebire; K H Nicolaides
Journal:  Fetal Diagn Ther       Date:  1995 Nov-Dec       Impact factor: 2.587

7.  The origin of human triploids.

Authors:  P A Jacobs; R R Angell; I M Buchanan; T J Hassold; A M Matsuyama; B Manuel
Journal:  Ann Hum Genet       Date:  1978-07       Impact factor: 1.670

8.  A case of triploidy.

Authors:  Ritu Dalmia; Peter Young; G V Sunanda
Journal:  Fertil Steril       Date:  2005-02       Impact factor: 7.329

9.  Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation.

Authors:  K Spencer; A W Liao; H Skentou; S Cicero; K H Nicolaides
Journal:  Prenat Diagn       Date:  2000-06       Impact factor: 3.050

10.  First-trimester nuchal translucency and maternal serum free beta-hCG and PAPP-A can detect triploidy and determine the parental origin.

Authors:  Yuval Yaron; Yifat Ochshorn; Sigal Tsabari; Anat Bar Shira
Journal:  Prenat Diagn       Date:  2004-06       Impact factor: 3.050
  10 in total

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