title: Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins.
abstract: OBJECTIVE
  To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation.
  
  
  METHODS
  Enrolled into this prospective multicenter observational study were women with twin pregnancies diagnosed before 14 + 6 gestational weeks. The monochorionic pregnancies were scanned every second week until 23 weeks in order to rule out early TTTS. All pregnancies had an anomaly scan in week 19 and fetal echocardiography in week 21 that was performed by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex.
  
  
  RESULTS
  Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS.
  
  
  CONCLUSIONS
  Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS. Ultrasound screening to assess chorionicity and follow-up of monochorionic pregnancies to detect signs of TTTS, as well as malformation screening, are therefore essential in the antenatal care of twin pregnancies.
authors: Department of Fetal Medicine, The Ultrasound Clinic, Juliane Marie Center, Rigshospitalet, and Department of Clinical Genetics, University Hospital, Copenhagen, Denmark. lenesperling@dadlnet.dk
authors: L
authors: L
authors: Sperling
authors: C
authors: C
authors: Kiil
authors: L U
authors: LU
authors: Larsen
authors: V
authors: V
authors: Brocks
authors: K R
authors: KR
authors: Wojdemann
authors: I
authors: I
authors: Qvist
authors: M
authors: M
authors: Schwartz
authors: C
authors: C
authors: Jørgensen
authors: G
authors: G
authors: Espersen
authors: K
authors: K
authors: Skajaa
authors: J
authors: J
authors: Bang
authors: A
authors: A
authors: Tabor
mesh_terms: D000328:Adult; D002823:Chorion; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D004200:Diseases in Twins / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005330:Fetofetal Transfusion / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011446:Prospective Studies; D027724:Reproductive Techniques, Assisted; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic; D016216:Ultrasonography, Prenatal / Q000379:methods