 O tanara de 34 de ani si partenerul ei

testarea genetica in timpul sarcinii deoarece

doresc sa mai aiba un copil. Cuplul are o
fetita de 4 ani cu Fibroza Chistica.
 Ce lucruri anticipati ca doresc sa discute?
 Cum ati incepe consultatia?
 Ce lucruri ati dori sa abordati?
 O tanara de 23 de ani, aflata la prima sarcina
si insarcinata in 14 saptamani, a solicitat o
consultatie pentru a discuta riscul de a avea
un copil cu sindromul Down. In urma unei
ecografii a fost semnalata transulcenta nucala
si li s-a comunicat un risc estimat de 1 la 50.
Cuplul este nehotarat in privinta testarii
invazive.
 Cum ati incepe consultatia?
 Ce ati avea nevoie sa stiti pentru a intelege mai
bine situatia cu care se confrunta?
 Cum puteti interveni pentru a le facilita decizia?
 A 15 year old is referred by their GP because
the teenager is asking questions about the
‘family pattern’. His family are known to the
department. He has never had a
chromosome test himself, but his fathers
report reads as follows:
 45, XY, der (13;14)(q10;q10)
 A couple were investigated after suffering 3
early miscarriages. The reports show the
following results:
 Women: 46XX
 Man: 46, XY, t (12;14)(q22:q22)
 26 year old woman with a 4 year old son
with developmental delay who has recently
had diagnosis of Fragile X. Genetic testing
has shown:
 Full mutation in son
 Pre-mutation in mother
Thirty year old woman and her partner.
Second child born 3 months ago with Down
syndrome. They had Down syndrome serum
screening test in pregnancy and it indicated
a 1 in 1000 chance of DS, and they
therefore did not have invasive testing. You
are asked to see them to help them
understand screening tests.
Couple whose first child was born with
isolated non-syndromic cleft lip and palate.
They want to know chance of recurrence.
45 year old man with family history of BrCa1
attends to discuss the risks to his 17 year
old daughter. His mother died of breast
cancer age 34, and recently his sister age
38 has been found to carry the BrCa1
mutation identified in other members of
their mother’s family.