title: Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women.
abstract: OBJECTIVE
  To study whether pregnant women would like to be informed if sex chromosomal abnormalities (SCA) were suspected with the non-invasive prenatal diagnosis of fetal Down syndrome (the NIFTY) test.
  
  
  METHODS
  Two hundred and one patients carried a singleton pregnancy requesting the NIFTY test were invited to give their preferences if there was suspicion of SCA by the NIFTY test.
  
  
  RESULTS
  Over 93.5% were ethnic Chinese, with a mean age of 36. Prior Down screening was positive in 66 (32.8%). Over 50% of subjects considered SCA to be better in terms of disability compared to Down syndrome, and only 5.2% considered SCA to be worse. Yet, the majority (198, 98.5%) indicated that they wanted to be informed if there was suspicion of SCA. Of whom 34.8% would have an amniocentesis for confirmation, while 57.1% were not certain, indicating the possibility of accepting these conditions.
  
  
  CONCLUSIONS
  Besides screening Down syndrome by NIFTY, most pregnant women would also like to be informed if there was suspicion of SCA. Those screened positive should be counseled by those with experience in genetics to avoid unnecessary pregnancy termination.
authors: Fetal Medicine Centre, Paramount Clinic, Central, Hong Kong. drtklau@hkparamount.com
authors: Tze Kin
authors: TK
authors: Lau
authors: Mei Ki
authors: MK
authors: Chan
authors: Pui Shan
authors: PS
authors: Salome Lo
authors: Hon Yee Connie
authors: HY
authors: Chan
authors: Waisze Kim
authors: WK
authors: Chan
authors: Tik Yee
authors: TY
authors: Koo
authors: Hoi Yan Joyce
authors: HY
authors: Ng
authors: Ritsuko K
authors: RK
authors: Pooh
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008875:Middle Aged; D010465:Perception / Q000502:physiology; D011247:Pregnancy; D037841:Pregnant People / Q000523:psychology*; D011296:Prenatal Diagnosis / Q000523:psychology*; D012729:Sex Chromosome Aberrations / Q000196:embryology; D011795:Surveys and Questionnaires; D055815:Young Adult