The Parents Learn That Their Newborn Has the CFTR Gene

question 37

Multiple Choice

The parents learn that their newborn has the CFTR gene located on chromosome 7. During counseling, what should the parents be told about the ways that this genetic alteration may be expressed as the child grows?

• A) The child develops normally without any clinical manifestations associated with cystic fibrosis.
• B) The patient is placed on a lung transplant list.
• C) The patient receives bilateral mastectomies.
• D) The patient is counseled about the increased risk of developing Alzheimer disease.
• E) The child exhibits some mild signs and symptoms associated with cystic fibrosis.

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Definitions:

Prenatal Screening

The testing of unborn babies for the detection of certain diseases or conditions before birth.

Chromosomal Abnormalities

Variations in the number or structure of chromosomes that can lead to birth defects, developmental delays, or genetic disorders.

Amniocentesis

A procedure for prenatal screening for chromosomal abnormalities conducted between the eleventh and eighteenth weeks of pregnancy. With the assistance of ultrasound, a needle is inserted into the amniotic sac via the abdomen and a small amount of amniotic fluid withdrawn. Cells contained in the fluid are then cultured in the lab.

Intellectual Disability

A term used to describe a condition characterized by significant limitations in both intellectual functioning and in adaptive behavior, which covers many everyday social and practical skills.