Scene IV: Martha shares a secret

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What are some causes of birth defects?

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Presentation transcript:

Scene IV: Martha shares a secret Objectives: After this lesson, the student will be able to: 1) Identify the risks of offspring associated with maternal age; 2) explain the clinical and chromosomal features of Down syndrome; 3) describe multifactorial conditions using cleft lip and palate as an example; and 4) describe how drugs or medications used during pregnancy may cause birth defects using fetal alcohol syndrome as an example.

Scene IV: Martha shares a secret No. He had better things to do. But he did tell me not to discuss any family history since he is trying to move up the executive ranks. Will your husband Norman be joining us today? I had requested that you both attend. He’s concerned that his firm might pass him up for a promotion if there was any suggestion of his being from “inferior stock.” I just learned that I’m about 6 weeks pregnant. I’m 40 years old. I’m worried about my age affecting the pregnancy.

Maternal Age Related Risks At age 40, the risk of delivering a child with Down syndrome is about 1 in 110.

Down Syndrome Karyotype

I’ve been reviewing your family history and I see Kristie was born with a cleft lip and palate. Yes. Kristie’s lip and palate were surgically repaired, leaving no trace.

Cleft Lip

Cleft Palate

Cleft Lip and Palate There are multiple factors that are known to cause cleft lips and palates. The reoccurrence risk is about 4%. So my baby has about a 4% chance of being born with a cleft lip and palate. Yes.

Fetal Alcohol Syndrome I know you said you are trying to quit drinking. But let’s discuss Fetal Alcohol Syndrome. We strongly advise you to stop drinking during your pregnancy. I know it’s for the best.

Fetal Alcohol Syndrome

I don’t suppose there’s any testing that can give me more information I don’t suppose there’s any testing that can give me more information? By the way, you’d better not tell Stacy or David any of this, or I’ll sue you and this place! Healthy girl Healthy boy Healthy girl (carrier) hemophiliacboy Let’s not forget what your brother David told you about Hemophilia. If you have a boy, there is a 50% chance he will be a hemophiliac.