Can cleft lip be surgically corrected?
Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sue’s family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselor’s discussion with the couple.
- Fathers, as well as mothers, can pass on genes that cause clefting.
- Some clefts are caused by environmental factors, meaning that the condition didn’t come from the father or the mother.
- One child in 33 is born with some sort of birth defect.
- One in 700 is born with a cleft-related birth defect.
- Most clefts occur in boys; however, a girl can be born with a cleft.
- If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100.
- Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring.
- Many clefts run in families even when there does not seem to be any identifiable syndrome present.
- Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000).
- A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant.
- Women who smoke are twice as likely to give birth to a child with a cleft.
- Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft.
- In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.
Trending nowThis is a popular solution!
Chapter 5 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
- If the child showed a cleft lip through ultrasound analysis and the parents then started blaming each other (because Sue is a smoker and Tim was born with the defect), how would you counsel them? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.arrow_forwardAfter hearing this information, should Sue and Tim feel that their chances of having a child with a cleft lip are increased over that of the general population? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.arrow_forwardCathy is pregnant for the second time. Her first child, Donald, has cystic fibrosis. Cathy has two brothers Charles and Colin, and a sister, Cindy. Colin and Cindy are unmarried. Charles is married to an unrelated woman, Carolyn, and has a 2-year old daughter, Debbie. Cathy's parents are Bob and Betty. Betty's sister Barbara is the mother of Cathy's husband, Calvin, who is 25. There is no previous family history of CF. Assume that everyone in this family is of Northern European Origin. A. Sketch the pedigree, using standard symbols. B. What is the pattern of transmission of CF, and what is the risk for CF for Cathy's next child? C. Which people in this pedigree are compound heterozygotes? D. What is the chance of Charles having a child with cystic fibrosis? Show your work.arrow_forward
- Cathy is pregnant for the second time. Her first child, Donald, has cystic fibrosis. Cathy has two brothers Charles and Colin, and a sister, Cindy. Colin and Cindy are unmarried. Charles is married to an unrelated woman, Carolyn, and has a 2-year old daughter, Debbie. Cathy's parents are Bob and Betty. Betty's sister Barbara is the mother of Cathy's husband, Calvin, who is 25. There is no previous family history of CF. Assume that everyone in this family is of Northern European Origin. D. What is the chance of Charles having a child with cystic fibrosis? Show your work.arrow_forwardit says that the parents took their daughter to their family practice because she had a foot infection. The physician then told them that the daughter should remain home and be bed ridden while she was recovering from the foot infection. The parents only found out that the form was incorrectly written out when the school called them to say that the form was filled out to say that their daughter was pregnant. After notifying the physician and the clinic several times that the form was filled out incorrectly; the clinic told the parents to stop bothering them about this issue. To me the physician doesn't have a good case for the jury. The parents contacted multiple times to try and get the form filled out correctly but was ignored by the physician and then was told by the clinic to stop bothering them about this issue. What do you think about this?arrow_forwardit says that the parents took their daughter to their family practice because she had a foot infection. The physician then told them that the daughter should remain home and be bed ridden while she was recovering from the foot infection. The parents only found out that the form was incorrectly written out when the school called them to say that the form was filled out to say that their daughter was pregnant. After notifying the physician and the clinic several times that the form was filled out incorrectly; the clinic told the parents to stop bothering them about this issue. To me the physician doesn't have a good case for the jury. The parents contacted multiple times to try and get the form filled out correctly but was ignored by the physician and then was told by the clinic to stop bothering them about this issue.arrow_forward
- Elsa is a mother of 2 and currently on her first trimester of her 3rd pregnancy's. She loves to eat raw rice, unripe guava and other unique food. Her two children ages 2 years and 3 years is remarkably stunted for growth, pale and big tummy, you have visited her home as part of your family nursing care. Based on this scenario to whom would you refer the family.arrow_forwardPlease answer with reason: 1) The nurse is explaining the inheritance of Huntington disease (autosomal dominant) to a newly diagnosed patient whose partner does not have the gene mutation. Which statement should the nurse make regarding family planning? a. There is a 100% chance with each pregnancy that the child will inherit the gene for Huntington disease. b. There is a 50% chance with each pregnancy that the child will inherit the gene for Huntington disease c. There is a 25% chance with each pregnancy that the child will inherit the gene for Huntington disease d. There is a 0% chance with each pregnancy that the child will inherit the gene for Huntington disease.arrow_forwardBrenna's pregnancy and delivery went even better than she'd expected. She had zero complications, and even with the birth of twins, she felt she was recovering well. The real challenge came when it was time to breastfeed her twins, Silvia and Lynette. Breastfeeding for the first time can be a challenge for any mom, and breastfeeding twins can be double the challenge. Brenna is having major concerns about being able to produce enough milk. Brenna is a small-breasted woman, and she is worried that she will not be able to feed both of her babies. True or false: Brenna will produce enough milk as long as her babies continue to nurse and stimulate production. The size of her breasts does not affect production, but it does affect the amount of milk she can store.arrow_forward
- At 37 years of age, Señora Mendez was in her 23rd week of pregnancy and expecting her second child. Or so she thought, until an ultrasound scan detected twins. Her prepregnancy weight was 142 pounds (64.5 kg) and her BMI. Señora Mendez’s weight-gain progress has been poor due to nausea and vomiting experienced in the first half of pregnancy. Otherwise, Sra. Mendez was experiencing a normal pregnancy for women expecting twins. Concerns about her weight-gain progress and the nutritional needs of women with twin gestation prompted her certified–nurse midwife to prescribe a prenatal vitamin and mineral supplement and to refer her to a registered dietitian/certified diabetes educator. A nutritional assessment completed during week 25 of pregnancy identified that Sra. Mendez had gained 14 pounds since conception, and that her typical dietary intake excluded food sources of EPA and DHA. Her plasma 25-hydroxyvitamin D level was below 24 nmol/L, indicating low vitamin D status. No other…arrow_forwardThe following clinical scenario contains (4) choose-between-two options: An 11-year-old boy with a history of developmental delay presents to your clinic. His mother states that for the past several weeks, he has been displaying symptoms of self-mutilation, and that he has been complaining of joint pain, especially to his toes and feet. On physical examination, there is marked swelling to the digits of his feet, especially his large toe, with associated redness. Given his clinical presentation, the patient likely has a defect with his (HGPRT / dihydrofolate reductase) enzyme. As a result, the patient most likely has (folate deficiency / Lesch-Nyhan syndrome). In clinical laboratory and urinalysis studies, you would expect this patient to have(lower / higher) levels of urate than normal reference ranges. Furthermore, de novo purine synthesis most likely occurs at a (lower / higher) rate in a healthy individual compared to your patient.arrow_forwardHow might the following individuals respond to or feel about these definitions? 1)A woman who ended a pregnancy, for whatever reason 2)A couple who have had a spontaneous abortion 3)A person with a disease that one day may be treated with stem cells. 4)A couple who have unsuccessfully tried to conceive for a decade.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning