Birth Defects

Case Study Number 1 One mother named Cindy had a fairly simple pregnancy, she had a healthy diet and exercised minutes a day right up until her third trimester. She took folic acid supplements, drank lots of milk and went regularly to prenatal checkups.

Her family had no history of medical ailments or illness however, her husband’s side of the family had a history of Cystic Fibrosis. When her daughter Madeline was born Cindy and her husband noticed she had difficulty breathing and would frequently get lung infections. The doctor later confirmed that Madeline had Cystic fibrosis.

What is the cause of Madeline’s Cystic Fibrosis?

Case Study Number 2 Roberto and his wife Gloria have been married two years and lead fast paced lives with demanding careers. The couple had often thought about starting a family but felt that they wanted to wait a few years until their careers slowed down. Every night after work Roberto and Gloria would have a family dinner and would usually consume 2-3 glasses of wine as they had been doing since they were young adults. Gloria began to notice that her period was late. At first she thought it was the stress from her job.

Two months later she began to worry and went to see her family doctor who suggested she take a urine test. The results from the urine test indicated that Gloria was two and half months pregnant. At first, Gloria was shocked but then she became very excited at the prospect of becoming a mother. Gloria and her husband signed up for Lamaze classes, and Gloria began to eat healthy and monitor her stress levels. Six and a half months later their son Javier was born.

As Javier began to grow older Gloria and Roberto began to notice that he was smaller than other children his age and his spine appeared curved. Concerned about their son, Gloria and Roberto consulted with their doctor who later diagnosed Juan as having Fetal Alcohol Syndrome.

What is the cause of Javier’s birth defect?

Case Study Number 3 Raj and his girlfriend Louise had been dating for several years and finally decided to move in together. After a few years of co-habitation Louise and Raj decided they wanted to try and have a child but they were concerned about Louise’s health. Louise had epilepsy and would often have seizures when she was stressed out. In order to control her seizures Louise took anti-seizure medication that was prescribed by her doctor.

Since moving in together Louise had not had any seizures and her and Raj decided it might be safe to start trying to become pregnant, but just in case of a seizure Louise continued to take her anti-seizure medication.

Raj was often stressed out during Louise’s pregnancy because he would have to work long hours and was unable to spend as much time with Louise as he would have liked. As a result Raj began smoking and even though Louise insisted he quit she often allowed him to smoke on the terrace. When Louise and Raj’s son Sanjay was born the doctor diagnosed him with cleft palate.

What is the cause of Sanjay’s birth defect?

What is a birth defect? An abnormality of structure, function, or body metabolism (inborn error of body chemistry) present at birth that results in physical or mental disability or is fatal.

Interesting Facts About 150,000 babies born each year have a birth defect. There are over 4,000 known birth defects. Birth defects are the leading cause of death in the first year of life. It is difficult for a child to be born with a serious medical problem to lead a normal life. The rest of the child’s family is affected by the emotional and financial strain.

Single Gene Defects Cystic Fibrosis Tay-Sachs Disease Dwarfism A single abnormal gene, found on chromosomes, can cause birth defects. An abnormal gene that can cause a birth defect only has to be inherited by one parent for it to show up.

Chromosomal Defects Down Syndrome Turner Syndrome (girl is missing X chromosome) Klinefelter Syndrome (boy had extra X chromosome) A baby is born with too many or too few chromosomes, or with one or more chromosomes that are broken or rearranged.

Environmental Defects Fetal Alcohol Spectrum Disorder Defects caused by STIs or STDs A defect caused by external factors that, in most cases, can be minimized by the mother-to-be. For example, consuming or being near any unhealthy factors such as smoke, alcohol, mercury, etc.

Multi-Factoral Defects Cleft Lip and Cleft Palate Spina Bifida A defect caused by a combination of one or more gene defects and environmental exposure.

Prenatal Tests Prenatal tests can be used to help diagnose the presence of a potential defect. Ultrasound Amniocentesis (used for Down Syndrome and women older than 35 years) Chorionic Villus Sampling