PMID- 26143093
OWN - NLM
STAT- MEDLINE
DCOM- 20160415
LR  - 20220316
IS  - 1643-3750 (Electronic)
IS  - 1234-1010 (Print)
IS  - 1234-1010 (Linking)
VI  - 21
DP  - 2015 Jul 5
TI  - Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of 
      Cytogenomic Abnormalities: 13 Years of Experience in a Single Center.
PG  - 1942-8
LID - 10.12659/MSM.893870 [doi]
AB  - BACKGROUND: Because the future application of cell-free fetal DNA screening is 
      expected to dramatically improve the diagnostic yield and reduce unnecessary 
      invasive procedures, it is time to summarize the indications of invasive prenatal 
      diagnosis. This retrospective study was performed to evaluate the changes and 
      efficacies of indications of invasive procedures for detecting cytogenomic 
      abnormalities from 2000 to 2012. MATERIAL AND METHODS: From our regional 
      obstetric unit, 7818 invasive procedures were referred by indications of advance 
      maternal age (AMA), abnormal ultrasound findings (aUS), abnormal maternal serum 
      screening (aMSS), and family history (FH). Chromosome, fluorescence in situ 
      hybridization (FISH), and array comparative genomic hybridization (aCGH) analyses 
      were performed on chorionic villus sampling (CVS) and amniotic fluid (AF) 
      specimens at the Yale Cytogenetics Laboratory. The abnormal findings from single 
      or combined indications were compared to evaluate the diagnostic yield. RESULTS: 
      The annual caseload declined by 57.2% but the diagnostic yield increased from 
      7.2% to 13.4%. Chromosomal and genomic abnormalities were detected in 752 cases 
      (9.6%, 752/7818) and 12 cases (4%, 12/303), respectively. Significantly decreased 
      AMA referrals and increased aUS and aMSS referrals were noted. The top 3 
      indications by diagnostic yield were AMA/aUS (51.4% for CVS, 24.2% for AF), aUS 
      (34.7% for CVS, 14.5% for AF), and AMA/aMSS (17.8% for CVS, 9.9% for AF). 
      CONCLUSIONS: Over a period of 13 years, the indication of aMSS and aUS were 
      increasing while AMA was decreasing for prenatal diagnosis of cytogenomic 
      abnormalities, and there was a continuous trend of reduced invasive procedures. 
      Prenatal evaluation using AMA/aUS was the most effective in detecting chromosomal 
      abnormalities, but better indications for genomic abnormalities are needed.
FAU - Meng, Jinlai
AU  - Meng J
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Matarese, Chelsea
AU  - Matarese C
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Crivello, Julianna
AU  - Crivello J
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Wilcox, Katherine
AU  - Wilcox K
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Wang, Dongmei
AU  - Wang D
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Xu, Fang
AU  - Xu F
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
FAU - Li, Peining
AU  - Li P
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150705
PL  - United States
TA  - Med Sci Monit
JT  - Medical science monitor : international medical journal of experimental and 
      clinical research
JID - 9609063
SB  - IM
MH  - *Chromosome Aberrations
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Prenatal Diagnosis
PMC - PMC4497468
EDAT- 2015/07/06 06:00
MHDA- 2016/04/16 06:00
PMCR- 2015/07/05
CRDT- 2015/07/06 06:00
PHST- 2015/07/06 06:00 [entrez]
PHST- 2015/07/06 06:00 [pubmed]
PHST- 2016/04/16 06:00 [medline]
PHST- 2015/07/05 00:00 [pmc-release]
AID - 893870 [pii]
AID - 10.12659/MSM.893870 [doi]
PST - epublish
SO  - Med Sci Monit. 2015 Jul 5;21:1942-8. doi: 10.12659/MSM.893870.