title: Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion.
abstract: Cell-free fetal DNA has received significant attention for the purposes of prenatal genetic testing in the past decade. Fetal DNA testing is a new method and promising for many applications such as aneuploidy screening, prenatal diagnosis, prediction of preeclampsia and more. A 37-year-old primigravida, with a pregnancy conceived by intracytoplasmic sperm injection (ICSI), was offered non-invasive prenatal testing (NIPT) due to advanced maternal age. NIPT performed at 23 weeks' gestation reported a diagnosis of monosomy X. She was offered an amniocentesis, which revealed a euploid fetus with no sex chromosome abnormalities. Even with single nucleotide polymorphism-based NIPT, positive predictive value for detection of sex chromosome abnormalities is around 50%. Positive results of NIPT should be heeded with caution and an invasive diagnostic procedure should be performed, especially for rare chromosomal abnormalities and sex chromosome abnormalities where NIPT performs subpar compared to its performance for detection of trisomy 21.
authors: Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey.
authors: Erkan
authors: E
authors: Kalafat
authors: Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey.
authors: Mehmet Murat
authors: MM
authors: Seval
authors: Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey.
authors: Batuhan
authors: B
authors: Turgay
authors: Department of Obstetrics and Gynecology, Ankara University School of Medicine, Ankara, Turkey.
authors: Acar
authors: A
authors: Koç
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D005189:False Positive Reactions; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal
references: Fetal Diagn Ther. 2014;35(1):1-6
references: 24335155
references: Cytogenet Genome Res. 2007;116(3):181-5
references: 17317957
references: Genet Med. 2015 Mar;17(3):234-6
references: 25101914
references: Clin Chem. 2014 Jan;60(1):251-9
references: 24193117
references: Prenat Diagn. 2013 Jun;33(6):569-74
references: 23592485
references: Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40
references: 23744609
references: Am J Med Genet. 1984 Dec;19(4):715-9
references: 6517096
references: Prenat Diagn. 2014 May;34(5):496-9
references: 24510887
references: Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8
references: 22742782
references: J Prenat Med. 2014 Jan-Mar;8(1-2):31-5
references: 25332757
references: Fetal Diagn Ther. 2014;35(3):156-73
references: 24513694
references: Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6
references: 23107079
references: Ultrasound Obstet Gynecol. 2013 Jan;41(1):21-5
references: 22996646
references: Ultrasound Obstet Gynecol. 2014 Jul;44(1):112-4
references: 24753041
references: Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17
references: 25111587