Clinical applications of medical genetics

Question 1

Charles Davenport began to give genetic advice as early as 1910 in the USA, and the first British genetic counselling clinic was established in 1946 at ____.

Answer 1

Great Ormond Street, London

Question 2

The scope for _____ has, in recent years expanded dramatically with the increasingly available data on human genetic disorders (e.g. their mechanism of inheritance in addition to their associated genes and markers) and the increasing availability of mutation analysis.

Answer 2

genetic counselling

Question 3

Geneticists are now much more involved in the management of patient follow - up, often coordinating several other specialties and initiating patient participation in multicentre clinical studies. These include trials of ____ and of _____.

Answer 3

clinical screening methods; new therapeutic strategies

Question 4

In addition to an accurate assessment of the risks in a family, the clinical geneticist also needs to discuss _____. Important advances in this respect have been made w/ regard to _____.

Answer 4

reproductive options;
prenatal diagnosis w/ the option of selective termination

Question 5

Genetic amniocentesis was first attempted in 1966 and the first prenatally detected chromosome abnormality was _____ in 1969.

Answer 5

trisomy 21

Question 6

_____ following amniocentesis is now a routine component of obstetric care, and over 200 different types of abnormality have been detected.

Answer 6

Chromosome analysis

Question 7

_____ is a prenatal diagnostic test in which a small amount of amniotic fluid is removed to determine any genetic abnormality.

Answer 7

Amniocentesis

Question 8

Amniocentesis was first used in 1968 for a pregnancy at risk of _____ and has since been used for successful prenatal diagnosis in over 150 inborn errors of metabolism.

Answer 8

Lesch – Nyhan syndrome

Question 9

Prenatal diagnosis can also be performed by ____ of fetal samples.

Answer 9

DNA analysis

Question 10

DNA analysis of fetal samples can also be used for prenatal diagnosis. This was first used in 1976 for a pregnancy at risk of _____ and has now been used in over 200 single-gene disorders, and for many of these, including ____, the _____ and ____, it has
become the main method of prenatal diagnosis.

Answer 10

alpha thalassemia; cystic fibrosis; fragile X syndrome, Duchenne muscular dystrophy

Question 11

_____, first used clinically (for sex determination) in 1990, is a more recently established technique that permits the testing of embryos at a very early stage following in vitro fertilization (IVF), prior to implantation in the uterus.

Answer 11

Preimplantation diagnosis (PGD)

Question 12

Preimplantation diagnosis (PGD), first used clinically for _____ in 1990, is a more recently established technique that permits the testing of embryos at a very early stage following in vitro fertilization (IVF), prior to implantation in the uterus.

Answer 12

sex determination

Question 13

Preimplantation diagnosis (PGD), first used clinically (for sex determination) in 1990, is a more recently established technique that permits the testing of embryos at a very early stage following _____, prior to implantation in the uterus.

Answer 13

in vitro fertilization (IVF)

Question 14

Preimplantation diagnosis (PGD), first used clinically (for sex determination) in 1990, is a more recently established technique that permits the testing of embryos at a very early stage following in vitro fertilization (IVF), prior to ____ in the uterus.

Answer 14

implantation

Question 15

_____ is a complex series of procedures used to help with fertility or prevent genetic problems & assist w/ the conception of a child. During ____ , mature eggs are collected (retrieved) from ovaries & fertilized by sperm in a lab.

Answer 15

In vitro fertilization (IVF)

Question 16

In IVF, a single cell or ____ is removed by suction, apparently harmlessly, from the embryo.

Answer 16

blastomere

Question 17

During pre-implantation diagnosis, using the ____ or _____, it is then possible to determine the fetal sex in cases of sex - linked disease or to detect a specific mutation or chromosomal abnormality .

Answer 17

polymerase chain reaction (PCR); FISH

Question 18

A more recent extension of the PGD technology is the technique known as _____. In this technique, a cell is extracted from an embryo following IVF and its DNA undergoes testing for a set of DNA markers closely linked to the disease gene without requiring the prior identification of the precise causative mutation.

Answer 18

Preimplantation genetic haplotyping

Question 19

Preimplantation genetic haplotyping can be performed by carrying out simultaneous or ____ of several DNA markers, using _____ to detect and differentiate the products.

Answer 19

multiplex PCRs; fluorescence t

Question 20

The prenatal tests that detect chromosomal, biochemical or DNA alterations cannot, however, detect many of the major congenital malformations. The alternative approach of ____ has been necessary for these.

Answer 20

fetal vizualisation through high-resolution ultrasound scanning

Question 21

High – resolution ultrasound scanning was first used to make a diagnosis of fetal abnormality, ____ in 1972

Answer 21

anencephaly