A family is trying desperately to have children. They have one healthy child but

Question

A family is trying desperately to have children. They have one healthy child but multiple subsequent pregnancies end before birth. You are a geneticist on a team assigned to help them.

1) Design a questionnaire for the family – what pertinent questions do you need to ask them?

2) What tests can you carry out to determine the cause of the suspected genetic mutation leading to the premature death of their unborn children? (what material will you gather and from whom, and what molecular techniques will you carry out).

Explanation / Answer

Answer:

Questionnaire:

1) How many children have you given birth to (male and female) in your life who are still alive?
2) How many premature death happend before the healthy baby was born?
3) What was your age when you were pregnant for the first time?
4) What was your age when you gave birth to the healthy baby?
5)How many time were you pregnant in the last 5 years?
6) In what months of the pregnancy were the premature death of the unborn children happend?
7) Did you underwent any specific test before the death of the fetus?
8) Were you under any medication during your prenancies?
9) Do you smoke or not?
10) Is there any family history of unborn fetuses?
11) Any genetic disorder/ chromosomal disorder in the the family?

12) Was there any genetic disorders detected in unborn fetues?

13) Did you undergo any therapy to stop this miscarriages?

14)What will be the impact on the couple themselves and on their marriage of having a child affected by a genetic disorder?

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There are some prenatal tests that may cause us to look further for a potential problem. Test that can cause us to suspect a problem are called screening tests. These tests reveal the possibility or risk of a problem, but they do not provide a specific diagnosis.1) First trimester screening- nuchal translucency checked.Additional prenatal testing such as chorionic villus sampling (CVS) or amniocentesis would be offered for anyone with a positive screening.
The triple screen or AFP-3 test is a blood test offered to most pregnant women. This test screens for those at increased risk for a baby with a genetic disorder, especially Down syndrome and trisomy 18, or a neural tube defect.
Chorionic villus sampling is an invasive test performed at 10 to 12 weeks' gestation. Chorionic villi are microscopic finger-like projections that make up the placenta. The cells from the placenta can give us information about the baby's genes and chromosomes because the baby and the placenta formed from the same fertilized egg.
Amniocentesis is another test which could be performed.

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