title: Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt.
abstract: We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping. Her pregnancy was complicated by severe pre-eclampsia and fetal growth restriction at 19+6 weeks of gestation and was terminated. Subsequent fetal karyotyping revealed a normal karyotype of 46XY with no apparent abnormalities.
authors.affiliation: Department of Obstetrics and Gynaecology, Singapore General Hospital, Singapore, Singapore.
authors.forename: C Y Y
authors.initials: CY
authors.lastname: Hui
authors.affiliation: Department of Obstetrics and Gynaecology, Singapore General Hospital, Singapore, Singapore.
authors.forename: W C
authors.initials: WC
authors.lastname: Tan
authors.affiliation: Department of Obstetrics and Gynaecology, Singapore General Hospital, Singapore, Singapore.
authors.forename: E L
authors.initials: EL
authors.lastname: Tan
authors.affiliation: Department of Obstetrics and Gynaecology, Singapore General Hospital, Singapore, Singapore.
authors.forename: L K
authors.initials: LK
authors.lastname: Tan
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D016736:Antiphospholipid Syndrome / Q000150:complications / Q000188:drug therapy*; D001241:Aspirin / Q000627:therapeutic use*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D005817:Genetic Counseling; D005865:Gestational Age; D006495:Heparin, Low-Molecular-Weight / Q000627:therapeutic use*; D006801:Humans; D007621:Karyotyping / Q000706:statistics & numerical data; D011225:Pre-Eclampsia / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013921:Thrombocytopenia / Q000150:complications / Q000188:drug therapy*; D016216:Ultrasonography, Prenatal
chemical_list: D006495:Heparin, Low-Molecular-Weight; D001241:Aspirin