PMID- 8878286
OWN - NLM
STAT- MEDLINE
DCOM- 19970117
LR  - 20161123
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 16
IP  - 8
DP  - 1996 Aug
TI  - Trisomy 16 mosaicism in amniotic fluid cell cultures.
PG  - 749-54
AB  - Trisomy 16 mosaicism was found in amniotic fluid cells in a patient undergoing 
      amniocentesis because of elevated second-trimester maternal serum 
      alpha-fetoprotein (MSAFP) (2.80 MOM), a markedly elevated human chorionic 
      gonadotropin level (hCG) (12.02 MOM), and a Down syndrome risk of 1:55. 
      Ultrasound evaluation of the fetus indicated the presence of an atrial septal 
      defect and clinodactyly. Cytogenetic analyses of various fetal tissues using 
      fluorescence in situ hybridization (FISH) failed to detect substantial numbers of 
      trisomy 16 cells; however, trisomy 16 mosaicism was identified in placental 
      tissue. Molecular genetic analysis at five different loci [four analysed by 
      polymerase chain reaction (PCR) and one by Southern blot analysis] failed to show 
      any evidence for uniparental disomy. Although trisomy 16 cells could not be 
      clearly demonstrated in the fetus, the presence of a clinically significant 
      proportion of aneuploid cells early in development could not be excluded and it 
      therefore cannot be assumed that a 'confined placental mosaicism' existed. The 
      markedly elevated hCG and elevated MSAFP levels are consistent with abnormal 
      placental function in trisomy 16 mosaicism. Serial ultrasound evaluation (to 
      detect any late-onset growth retardation) and fetal echocardiography may be 
      indicated for patients with extraordinarily high levels of hCG, especially if 
      MSAFP is also elevated.
FAU - Tantravahi, U
AU  - Tantravahi U
AD  - Department of Pathology, Women and Infants Hospital, Brown University, 
      Providence, RI, USA.
FAU - Matsumoto, C
AU  - Matsumoto C
FAU - Delach, J
AU  - Delach J
FAU - Craffey, A
AU  - Craffey A
FAU - Smeltzer, J
AU  - Smeltzer J
FAU - Benn, P
AU  - Benn P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Chorionic Gonadotropin)
RN  - 0 (alpha-Fetoproteins)
RN  - FB33469R8E (Estriol)
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Amniotic Fluid/*cytology
MH  - Cells, Cultured
MH  - Chorionic Gonadotropin/blood
MH  - *Chromosomes, Human, Pair 16
MH  - Estriol/blood
MH  - Female
MH  - Fetal Diseases/diagnostic imaging
MH  - Heart Septal Defects, Atrial/diagnostic imaging
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Placenta/ultrastructure
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - *Trisomy
MH  - Ultrasonography, Prenatal
MH  - alpha-Fetoproteins/analysis
EDAT- 1996/08/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/08/01 00:00
PHST- 1996/08/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/08/01 00:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199608)16:8<749::AID-PD935>3.0.CO;2-C [pii]
AID - 10.1002/(SICI)1097-0223(199608)16:8<749::AID-PD935>3.0.CO;2-C [doi]
PST - ppublish
SO  - Prenat Diagn. 1996 Aug;16(8):749-54. doi: 
      10.1002/(SICI)1097-0223(199608)16:8<749::AID-PD935>3.0.CO;2-C.