Case:
Brittany is a genetic counselor working in a Children’s Hospital that provides comprehensive genetic services, including prenatal genetic counseling. Lisa, age 38, was referred by her OB/GYN because of advanced maternal age. Lisa’s partner, Jamie, age 39, is also present at the genetic counseling session. The intake form notes that the couple used in vitro fertilization to conceive this pregnancy. As she always does, Brittany briefly explains to Lisa and Jamie that she will gather family history information. Then, Brittany begins to ask questions to draw the pedigree. After eliciting Lisa’s family history, Brittany asks Lisa, “Do you know about the paternal side-about the father of the baby and his family history?” Lisa corrects the genetic counselor. “Do you mean, do we know about the sperm donor? Of course, yes, Jamie and I have information about the donor’s family history.” Brittany blushes, looks uncomfortable, and says, “Sorry. Let’s just continue with the pedigree.”
Lisa’s family history and pedigree:
Family History
Proband: Lisa Reisten is 38 years old and in good health. Lisa’s egg was used to conceive this, her first, pregnancy. Lisa has two brothers. Her older brother is 40 years old. He has no apparent health problems and no children. Lisa’s younger brother died in a car accident at age 16; he had been healthy before the accident. Lisa’s parents divorced after 20 years of marriage. Her mother is 69 years old and she has three sisters and one brother, all healthy. Lisa’s mother’s parents died of natural causes; her father at age 73 and her mother at age 76. Lisa’s father (70 years old) was an only child whose mother died in childbirth at age 24. His father is still alive at 90 years old but he has high cholesterol and high blood pressure. Lisa’s mother’s family was from Germany and her father’s family was from England. There is no known consanguinity.
Proband’s Domestic Partner: Jamie O’Hare is 39 years old and in good health. Jamie was previously married for two years; that relationship resulted in no pregnancies or children. Jamie had recently divorced from her husband when she and Lisa met through mutual friends about six years ago.
Sperm Donor: The anonymous sperm donor was identified by Lisa’s reproductive endocrinologist. Lisa was told that her physician’s donor screening protocol is rigorous. Lisa reports that the sperm donor is 32 years old and healthy, with no previous pregnancies or children. The donor’s sister and parents were reported to be in good health. The donor’s mothers’ parents were reported to have both died of natural causes. The donor’s father’s parents are reported as alive and well. The donor’s family background is French. There is no known consanguinity.
Additional Notes about the Family: Jamie and Lisa have been together as a couple for about five years. They are very excited that they are finally building the family they have dreamed about. Both Jamie and Lisa actively participate in the tasks of childrearing; they plan to cut back on taking new work responsibilities to generate more family time.
