PMID- 37849257
OWN - NLM
STAT- MEDLINE
DCOM- 20231019
LR  - 20231019
IS  - 0529-567X (Print)
IS  - 0529-567X (Linking)
VI  - 58
IP  - 10
DP  - 2023 Oct 25
TI  - [Report content and prenatal diagnosis of non-invasive prenatal testing for sex 
      chromosome aneuploidy].
PG  - 766-773
LID - 10.3760/cma.j.cn112141-20230412-00168 [doi]
AB  - Objective: To analyze the report content, the methods and results of prenatal 
      diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive 
      prenatal testing (NIPT). Methods: A total of 227 single pregnancy pregnant women 
      who received genetic counseling and invasive prenatal diagnosis at Drum Tower 
      Hospital Affiliated to the Medical School of Nanjing University from January 2015 
      to April 2022 due to the high risk of SCA suggested by NIPT were collected. The 
      methods and results of prenatal diagnosis were retrospectively analyzed, and the 
      results of chromosome karyotype analysis and chromosome microarray analysis (CMA) 
      were compared. The relationship between NIPT screening and invasive prenatal 
      diagnosis was analyzed. Results: (1) Prenatal diagnosis methods for 277 SCA high 
      risk pregnant women included 73 cases of karyotyping, 41 cases of CMA and 163 
      cases of karyotyping combined with CMA, of which one case conducted amniocentesis 
      secondly for further fluorescence in situ hybridization (FISH) testing. Results 
      of invasive prenatal diagnosis were normal in 166 cases (59.9%, 166/277), and the 
      abnormal results including one case of 45,X (0.4%, 1/277), 18 cases of 47,XXX 
      (6.5%, 18/277), 36 cases of 47,XXY (13.0%, 36/277), 20 cases of 47,XYY (7.2%, 
      20/277), 1 case of 48,XXXX (0.4%, 1/277), 20 cases of mosaic SCA (7.2%, 20/277), 
      5 cases of sex chromosome structural abnormality or large segment abnormality 
      (1.8%, 5/277), and 10 cases of other abnormalities [3.6%, 10/277; including 9 
      cases of copy number variation (CNV) and 1 case of balanced translocation]. 
      Positive predictive value (PPV) for SCA screening by NIPT was 34.7% (96/277). (2) 
      Among the 163 cases tested by karyotyping combined with CMA, 11 cases (6.7%, 
      11/163) showed inconsistent results by both methods, including 5 cases of mosaic 
      SCA, 1 case of additional balanced translocation detected by karyotyping and 5 
      cases of additional CNV detected by CMA. (3) NIPT screening reports included 149 
      cases of "sex chromosome aneuploidy"(53.8%, 149/277), 54 cases of "number of sex 
      chromosome increased" (19.5%, 54/277), and 74 cases of "number of sex chromosome 
      or X chromosome decreased" (26.7%, 74/277). The PPV of "number of sex chromosome 
      increased" and "number of sex chromosome or X chromosome decreased" were 72.2% 
      (39/54) and 18.9% (14/74), respectively, and the difference was statistically 
      significant (chi(2)=34.56, P<0.01). Conclusions: NIPT could be served as an 
      important prenatal screening technique of SCA, especially for trisomy and 
      mosaicism, but the PPV is comparatively low. More information of NIPT such as the 
      specific SCA or maternal SCA might help improving the confidence of genetic 
      counseling and thus guide clinic management. Multi technology platforms including 
      karyotyping, CMA and FISH could be considered in the diagnosis of high risk of 
      SCA by NIPT.
FAU - Zhou, C X
AU  - Zhou CX
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - He, L L
AU  - He LL
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Zhu, X Y
AU  - Zhu XY
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Li, Z X
AU  - Li ZX
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Duan, H L
AU  - Duan HL
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Liu, W
AU  - Liu W
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Gu, L L
AU  - Gu LL
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
FAU - Li, J
AU  - Li J
AD  - Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to 
      the Medical School of Nanjing University, Nanjing 210008, China.
LA  - chi
GR  - 81901474/National Natural Science Foundation of China/
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Fu Chan Ke Za Zhi
JT  - Zhonghua fu chan ke za zhi
JID - 16210370R
SB  - IM
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - Retrospective Studies
MH  - *DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - *Aneuploidy
MH  - Prenatal Diagnosis/methods
MH  - Sex Chromosome Aberrations
MH  - Sex Chromosomes/genetics
EDAT- 2023/10/18 06:43
MHDA- 2023/10/19 06:43
CRDT- 2023/10/18 02:50
PHST- 2023/10/19 06:43 [medline]
PHST- 2023/10/18 06:43 [pubmed]
PHST- 2023/10/18 02:50 [entrez]
AID - 10.3760/cma.j.cn112141-20230412-00168 [doi]
PST - ppublish
SO  - Zhonghua Fu Chan Ke Za Zhi. 2023 Oct 25;58(10):766-773. doi: 
      10.3760/cma.j.cn112141-20230412-00168.