title: Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations.
abstract: BACKGROUND
  Pregnant women with high-risk indications are highly suspected of fetal chromosomal aberrations. To determine whether Multiplex Ligation-dependent Probe Amplification (MLPA) using subtelomeric probe mixes (P036-E2 and P070-B2) is a reliable method for rapid detection of fetal chromosomal aberrations. The subtelomeric MLPA probe mixes were used to evaluate 50 blood samples from healthy individuals. 168 amniocytes and 182 umbilical cord blood samples from high-risk fetuses were analyzed using the same subtelomeric MLPA probe sets. Karyotyping was also performed in all cases of high-risk pregnancies, and single nucleotide polymorphism array analysis was used to confirm submicroscopic and ambiguous results from MLPA/karyotyping.
  
  
  RESULTS
  Subtelomeric MLPA analysis of normal samples showed normal result in all cases by use of P036-E2 probe mix, while P070-B2 probe mix gave normal results for all but one case. In one normal control case P070-B2 produced a duplicated signal of probe for 13q34. In the high-risk group, totally 44 chromosomal abnormalities were found by karyotyping and MLPA, including 23 aneuploidies and 21 rearrangements or mosaics. MLPA detected all 23 aneuploidies, 12 rearrangements and 1 mosaic. Importantly, MLPA revealed 4 chromosomal translocations, 2 small supernumerary marker chromosomes (sSMCs), and 3 subtelomeric imbalances that were not well characterized or not detectable by karyotyping. However, MLPA showed negetive results for the remaining 8 rearrangements or mosaics, including 3 low mosaic aneuploidies, 1 inherited sSMC, and 4 paracentric inversions.
  
  
  CONCLUSIONS
  Results suggest that combined use of subtelomeric MLPA and karyotyping may be an alternative method for using karyotype analyses alone in rapid detection of aneuploidies, rearrangements, and sSMCs.
authors.affiliation: School of Laboratory Medicine and Life Science, Wenzhou Medical University, Key Laboratory of Medical Genetics, Zhejiang, China.
authors.forename: Xiangnan
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Yijian
authors.initials: Y
authors.lastname: Mao
authors.affiliation: Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Xueqin
authors.initials: X
authors.lastname: Xu
authors.affiliation: School of Laboratory Medicine and Life Science, Wenzhou Medical University, Key Laboratory of Medical Genetics, Zhejiang, China.
authors.forename: Jiaojiao
authors.initials: J
authors.lastname: Lv
authors.affiliation: Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Lili
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Lin
authors.affiliation: School of Laboratory Medicine and Life Science, Wenzhou Medical University, Key Laboratory of Medical Genetics, Zhejiang, China ; Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang 325000 China.
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
keywords: Aneuploidy; Fetal chromosomal aberrations; High-risk fetuses; Mosaics; Rearrangements; SNP array; Subtelomeric MLPA; sSMC