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Because they are performed in intrauterine period, they
are associated with a risk of miscarriage and other com-
plications. For this reason, they are generally recommen-
ded only for women age 35 or older, those with a family
history of genetic defects, or those who have had an ab-
normal result on a screening test.[6]
Diagnostic tests include: chorionic villus sampling (CVS),
amniocentesis or percutaneous umbilical cord blood sam-
pling (PUBS).
Conclusions
Our study based on a medium group showed the impor-
tance of chromosomal analysis for reffered Down syndro-
me cases. Most of the DS children were born to mother’s
< 35years of age and were second born in the birth order.
Though advanced maternal age is an established risk fac-
tor for DS, this study shown increased number of DS ba-
bies born to the young mothers.
Parental karyotypes are also essential for all patients
with a translocation, to be sure that the rearrangement
was not inherited.
Cytogenetic techniques are very important for the
identification of the genetic variant of Down syndrome.
The information obtained provides basis for determining
the risks of recurrence and for genetic counseling.
Prenatal diagnosis must be offered to all mothers at
risk: women >35years or younger mothers, if the karyo-
type analysis indicates an altered chromosomal pattern.
Prenatal cytogenetic analysis from chorionic villi or am-
niotic fluid can provide early and accurate diagnosis and
help the family to avoid the recurrence.
Bibliography
1. Kenneth Lyons Jones, Down Syndrome,
Smith’s Recognizable Patterns of Human
Malformation, fifth edition, W.B.Saunders
Company, 1997, p.8-10
2. Suzanne B.Cassidy, Judith E.Allanson,
Down syndrome, Management of genetic
syndromes, second edition, John Wiley
& Sons, Inc.,Hoboken, New Jersey, 2005,
p.191-195
3. Robert L. Nussbaum, Roderick R.McInnes,
Huntington F.Willard, Clinical Cytoge-
netics: Disorders of the Autosomes and
the Sex Chromosomes, Down Syndrome.
Thompson&Thompson Genetics in Medicine,
2001, p.157-162
4 . D a v i d L . R i m o i n , J. Mi c h a e l C o n -
n o r, R e e d E . P y e r i t z , B r u c e R . K o r f ,
Tr i s o m y 2 1 D o w n s y n d r o m e , E m e r y
a n d R i m o i n’s P r i n c i p l e s a n d P r a c t i c e
o f M e d i c a l G e n e t i c s f o u r t h e d i t i o n ,
E l s e v i e r S c i e n c e L i m i t e d 2 0 0 2 , p . 1 1 3 1 -
1 1 5 2
5. Helen V.Firth, Jane A. Hurst, Down syn-
drome (trisomy 21), Oxford Desk Reference
Clinical Genetics, Oxford University Press,
2005, p.524-526
6. Andrew Read , Dian Donnai , New Clinical
Genetics, Scion Publishing Ltd , 2007, p.47,
50, 275, 276
Vol. 4, Nr. 3/septembrie 2008
pag. 173
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