PMID- 31751677
OWN - NLM
STAT- MEDLINE
DCOM- 20210512
LR  - 20210512
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 22
IP  - 2
DP  - 2020 Feb
TI  - Single-Molecule Sequencing: A New Approach for Preimplantation Testing and 
      Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype.
PG  - 220-227
LID - S1525-1578(19)30408-8 [pii]
LID - 10.1016/j.jmoldx.2019.10.001 [doi]
AB  - We investigated the potential of next-generation sequencing (NGS) as an 
      alternative method for preimplantation genetic testing of monogenic disease 
      (PGT-M) with human leukocyte antigen (HLA) matching and for noninvasive prenatal 
      diagnosis follow-up. The case involved parents who were carriers of the Fanconi 
      anemia complementation group G (FANCG) 260delG mutation. After clinical PGT using 
      conventional short tandem repeat and mutation analysis, two euploid disease-free 
      embryos were transferred, resulting in a twin pregnancy. Using the original 
      embryo whole genome amplification products from 10 embryos, NGS confirmed the 
      genotypes of the eight nontransferred embryos for both mutation status and HLA 
      combination. NGS also confirmed that the two transferred embryos, which resulted 
      in a twin pregnancy, were euploid, Fanconi disease free, and HLA matched to their 
      sick sibling. At 15 weeks' gestation, noninvasive prenatal diagnosis of the 
      maternal cell-free DNA determined fetal fractions of 14% and 6.6% for twins 1 and 
      2, respectively. The maternal plasma FANCG 260delG mutation ratio was measured at 
      46.2%, consistent with the presence of a carrier fetus and a normal fetus. These 
      findings provide proof of concept that NGS has clinical utility as a safe and 
      effective PGT-M method for embryo genotyping as well as more complex direct HLA 
      matching. In addition, NGS can be used to confirm the original PGT-M and HLA 
      matching embryo results in early pregnancy without the need for invasive prenatal 
      diagnosis.
CI  - Copyright (c) 2020 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Rechitsky, Svetlana
AU  - Rechitsky S
AD  - Reproductive Genetic Innovations, Chicago, Illinois.
FAU - Kuliev, Anver
AU  - Kuliev A
AD  - Reproductive Genetic Innovations, Chicago, Illinois.
FAU - San Ramon, Geraldine
AU  - San Ramon G
AD  - Reproductive Genetic Innovations, Chicago, Illinois.
FAU - Tur-Kaspa, Ilan
AU  - Tur-Kaspa I
AD  - Institute for Human Reproduction, Chicago, Illinois.
FAU - Wang, Yin
AU  - Wang Y
AD  - Research and Development Department, Berry Genomics Corporation, Beijing, 
      People's Republic of China.
FAU - Wang, Wenjie
AU  - Wang W
AD  - Women Health Center of Shanxi, Children's Hospital of Shanxi, Taiyuan, People's 
      Republic of China.
FAU - Wu, Xueqing
AU  - Wu X
AD  - Women Health Center of Shanxi, Children's Hospital of Shanxi, Taiyuan, People's 
      Republic of China.
FAU - Wang, Li
AU  - Wang L
AD  - IVF Center, First Hospital of Kunming, Kunming, People's Republic of China.
FAU - Leigh, Don
AU  - Leigh D
AD  - IVF Center, First Hospital of Kunming, Kunming, People's Republic of China.
FAU - Cram, David S
AU  - Cram DS
AD  - Research and Development Department, Berry Genomics Corporation, Beijing, 
      People's Republic of China; Women Health Center of Shanxi, Children's Hospital of 
      Shanxi, Taiyuan, People's Republic of China; IVF Center, First Hospital of 
      Kunming, Kunming, People's Republic of China. Electronic address: 
      david.cram@berrygenomics.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20191118
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (FANCG protein, human)
RN  - 0 (Fanconi Anemia Complementation Group G Protein)
RN  - 0 (Genetic Markers)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Aneuploidy
MH  - Fanconi Anemia Complementation Group G Protein/genetics
MH  - Female
MH  - *Fetus
MH  - Genetic Markers
MH  - Genetic Testing/methods
MH  - *Genotype
MH  - Genotyping Techniques
MH  - HLA Antigens/genetics
MH  - *High-Throughput Nucleotide Sequencing/methods
MH  - Histocompatibility Testing
MH  - Humans
MH  - Male
MH  - Noninvasive Prenatal Testing/*methods/standards
MH  - Pregnancy
MH  - Pregnancy, Twin
MH  - Preimplantation Diagnosis/*methods/standards
MH  - Single-Cell Analysis/*methods
EDAT- 2019/11/22 06:00
MHDA- 2021/05/13 06:00
CRDT- 2019/11/22 06:00
PHST- 2019/07/29 00:00 [received]
PHST- 2019/09/11 00:00 [revised]
PHST- 2019/10/10 00:00 [accepted]
PHST- 2019/11/22 06:00 [pubmed]
PHST- 2021/05/13 06:00 [medline]
PHST- 2019/11/22 06:00 [entrez]
AID - S1525-1578(19)30408-8 [pii]
AID - 10.1016/j.jmoldx.2019.10.001 [doi]
PST - ppublish
SO  - J Mol Diagn. 2020 Feb;22(2):220-227. doi: 10.1016/j.jmoldx.2019.10.001. Epub 2019 
      Nov 18.