PMID- 30632238
OWN - NLM
STAT- MEDLINE
DCOM- 20190814
LR  - 20190814
IS  - 1447-0756 (Electronic)
IS  - 1341-8076 (Linking)
VI  - 45
IP  - 4
DP  - 2019 Apr
TI  - Utility and performance of bacterial artificial chromosomes-on-beads assays in 
      chromosome analysis of clinical prenatal samples, products of conception and 
      blood samples.
PG  - 830-840
LID - 10.1111/jog.13920 [doi]
AB  - AIM: Chromosome analysis of prenatal samples and products of conception (POC) has 
      conventionally been done by karyotyping (KT). Shortcomings of KT like high 
      turnaround time and culture failure led to technology innovations, such as the 
      bacterial artificial chromosomes (BAC)s-on-Beads (BoBs)-based tests, Prenatal 
      BoBs (prenatal samples) and KaryoLite BoBs (POC samples). In the present study, 
      we validated and evaluated the utility of each test on prenatal, POC and blood 
      samples. METHODS: Study A (n = 305; 259 prenatal + 46 blood/POC) and Study B 
      (n = 176; 146 POC/chorionic vill + 30 blood/amniotic fluid) samples were analyzed 
      using Prenatal and KaryoLite BoBs kits, respectively. KT, array-based Comparative 
      Genomic Hybridization (arrayCGH) and fluorescence in situ hybridization (FISH) 
      were used for comparison of results. Ability of KaryoLite BoBs to identify ring 
      chromosomes was tested. RESULTS: Prenatal BoBs had zero test failure rate and 
      results of all samples were concordant with KT results. Totally four 
      microdeletions were identified by Prenatal BoBs but not by KT. In Study B, all 
      but two POC samples (one triploid and one tetraploid) were concordant with KT and 
      arrayCGH. Partial chromosomal imbalance detection rate was ~64% and KaryoLite 
      BoBs indicated the presence of a ring chromosome in all four cases. The failure 
      rate of KaryoLite BoBs was 3%. CONCLUSION: We conclude that Prenatal BoBs (common 
      aneuploidies and nine microdeletions) together with KT constitutes more 
      comprehensive prenatal testing compared to FISH and KT. KaryoLite BoBs for 
      aneuploidies of all chromosomes is highly successful in POC analysis and the 
      ability to indicate presence of ring chromosomes improves its clinical 
      sensitivity. Both tests are robust and could also be used for different 
      specimens.
CI  - (c) 2019 Japan Society of Obstetrics and Gynecology.
FAU - Rose, Rajiv
AU  - Rose R
AD  - Molecular Laboratory, PerkinElmer Health Sciences, Ticel BioPark- Phase II, 
      Chennai, India.
FAU - Venkatesh, Aishwarya
AU  - Venkatesh A
AD  - Molecular Laboratory, PerkinElmer Health Sciences, Ticel BioPark- Phase II, 
      Chennai, India.
FAU - Pietila, Sanna
AU  - Pietila S
AD  - Research & Development Laboratory, PerkinElmer, Singapore, Singapore.
FAU - Jabeen, Gazala
AU  - Jabeen G
AD  - Cytogenetics Laboratory, PerkinElmer Health Sciences, Ticel BioPark-Phase II, 
      Chennai, India.
FAU - Jagadeesh, Sujatha M
AU  - Jagadeesh SM
AD  - Molecular Laboratory, PerkinElmer Health Sciences, Ticel BioPark- Phase II, 
      Chennai, India.
AD  - Cytogenetics Laboratory, PerkinElmer Health Sciences, Ticel BioPark-Phase II, 
      Chennai, India.
AD  - Genetics Department, MediScan Systems, Chennai, India.
FAU - Seshadri, Suresh
AU  - Seshadri S
AD  - Molecular Laboratory, PerkinElmer Health Sciences, Ticel BioPark- Phase II, 
      Chennai, India.
AD  - Cytogenetics Laboratory, PerkinElmer Health Sciences, Ticel BioPark-Phase II, 
      Chennai, India.
AD  - Prenatal Diagnosis and Therapy Center, MediScan Systems, Chennai, India.
LA  - eng
PT  - Journal Article
DEP - 20190110
PL  - Australia
TA  - J Obstet Gynaecol Res
JT  - The journal of obstetrics and gynaecology research
JID - 9612761
MH  - Adult
MH  - Biological Assay/*standards
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis
MH  - *Chromosomes, Artificial, Bacterial
MH  - Female
MH  - Genetic Testing/*standards
MH  - Humans
MH  - Karyotyping
MH  - Pregnancy
MH  - Prenatal Diagnosis/*standards
OTO - NOTNLM
OT  - KaryoLite BoBs
OT  - Prenatal BoBs
OT  - bacterial artificial chromosomes-on-beads
OT  - chromosome analysis
OT  - microdeletion syndrome
OT  - products of conception
EDAT- 2019/01/12 06:00
MHDA- 2019/08/15 06:00
CRDT- 2019/01/12 06:00
PHST- 2018/07/20 00:00 [received]
PHST- 2018/12/16 00:00 [accepted]
PHST- 2019/01/12 06:00 [pubmed]
PHST- 2019/08/15 06:00 [medline]
PHST- 2019/01/12 06:00 [entrez]
AID - 10.1111/jog.13920 [doi]
PST - ppublish
SO  - J Obstet Gynaecol Res. 2019 Apr;45(4):830-840. doi: 10.1111/jog.13920. Epub 2019 
      Jan 10.