title: One stop clinic for assessment of risk for fetal anomalies: a report of the first year of prospective screening for chromosomal anomalies in the first trimester.
abstract: OBJECTIVE
  To evaluate the introduction of a one stop multidisciplinary clinic for screening for fetal chromosomal abnormalities in the first trimester by a combination of maternal serum biochemistry and ultrasonography providing a risk of chromosomal abnormalities within a one hour clinic visit.
  
  
  METHODS
  One year retrospective review of screening performance.
  
  
  METHODS
  All women attending for routine antenatal care. The population included 4,190 singleton pregnancies in women of all ages screened between 10 weeks and 3 days and 13 weeks and 6 days of gestation between the periods 1 June 1998 and 31 May 1999 in a district general hospital antenatal clinic.
  
  
  METHODS
  All women booked into the clinic were offered screening by a combination of maternal serum free beta human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein A (PAPP-A) and fetal nuchal translucency thickness. Women at increased risk of carrying a fetus with trisomy 21 or trisomy 18/13 (> or =1 in 300 at sampling) were offered counselling and an invasive diagnostic procedure. Follow up of the outcome of all pregnancies was carried out.
  
  
  METHODS
  The detection rate for trisomy 21, trisomy 18/13 and all aneuploides, false positive rate, uptake of screening, uptake of chorionic villus sampling in women identified at increased risk and fetal loss after chorionic villus sampling.
  
  
  RESULTS
  Overall 97.6% of the women (4,088/4,190) accepted first trimester screening. The rate of detection of trisomy 21 was 86% (6/7), for trisomy 18/13 100% (9/9) and for all aneuploides 95% (18/19). Fetal death at presentation was found in 1.6% of pregnancies (69/4,088). Of women who accepted screening, 6.1% (257/4,088) presented too late for fetal nuchal translucency measurement and 6.5% of the women (271/4,088) presented too early. The false positive rate was 6.7% (253/3,762). Uptake of invasive testing was 83% (207/253).
  
  
  CONCLUSIONS
  First trimester prenatal screening for chromosomal abnormalities using a combination of maternal serum biochemistry and fetal nuchal translucency thickness can achieve detection rates in excess of 90%. These services can be provided in a one stop multidisciplinary clinic.
authors.affiliation: Department of Clinical Biochemistry, Harold Wood Hospital, Romford, Essex, UK.
authors.forename: K
authors.initials: K
authors.lastname: Spencer
authors.forename: C E
authors.initials: CE
authors.lastname: Spencer
authors.forename: M
authors.initials: M
authors.lastname: Power
authors.forename: A
authors.initials: A
authors.lastname: Moakes
authors.forename: K H
authors.initials: KH
authors.lastname: Nicolaides
mesh_terms: D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D009436:Neural Tube Defects / Q000175:diagnosis; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D012189:Retrospective Studies; D012307:Risk Factors; D013205:Staphylococcal Protein A / Q000097:blood
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D013205:Staphylococcal Protein A