Skip to main content

Advertisement

Table 2 Fetal abnormalities detected using BACs-on-Beads (BoBs™) alone and conventional karyotyping alone

From: Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Prenatal BoBs™ (n, %) Conventional karyotyping (n, %) Gender Fetal outcome Number
Trisomy 13 (1, 0.02%) Abnormal (1, 0.02%) Male Abortion 1
Trisomy 18 (24, 0.49%) Abnormal (24, 0.49%) Female Abortion 15
Male Abortion 9
Trisomy 21 (82, 1.69%) Abnormal (82, 1.69%) Female Abortion 42
Male Abortion 39
DiGeorge syndrome (2, 0.04%) Normal (2, 0.04%) Male Abortion 2
Williams–Beuren syndrome (1, 0.02%) Normal (1, 0.02%) Female Abortion 1
Turner syndrome (4, 0.08%) Abnormal (4, 0.08%) Female Normal 1
   Female Abortion 3
Klinefelter’s syndrome (3, 0.06%) Abnormal (3, 0.06%) Male Abortion 3
Othersa (27, 0.57%) Normal (20, 0.41%) Female Normal 7
Female Abortion 1
   Male Normal 10
   Male Abortion 2
  Abnormal (7, 0.15%) Female Abortion 5
   Male Abortion 2
  1. BoBs™: Bacterial artificial chromosome (BACs)-on-Beads examination
  2. -: Sex data missing
  3. a15q11, 18p11, 22q11.2, 7q11.2, Xp22.31, Yq11 chromosomal region enrich, Xp21-p22, Xp22.31 chromosomal region deletion, 47XXX, 47XYY