Fetal Abnormalities Detected by Ultrasound: A Guide for Expecting Mothers

Ultrasound examination for fetal abnormalities?

Hello Doctor, I am a mother-to-be who is over three months pregnant.
I have a family history of X-linked Fragile X syndrome.
However, before I go for a blood test to check for this genetic complication, during the ultrasound examination, the doctor mentioned that the fetus does not seem to be doing well.
He described it as follows: 1.
The umbilical cord appears to be protruding or looks like it is bursting.
2.
The fetal spine is only half the length it should be, with the lower part missing.
In simple terms, the fetus is abnormal! He said to come back in a week to see if the baby has grown and if we can see more clearly.
If abnormalities are still confirmed, we may have to consider termination.
At that moment, I felt very complicated and did not ask many questions.
I would like to ask the doctor if there is a possibility of improvement? What could be the causes of such issues? I am not sure what else to ask, and I would like to hear your opinions and thoughts! Thank you for your hard work.

Jun, 20~29 year old female. Ask Date: 2018/06/22

Dr. Huang Jianzhong reply Obstetrics and Gynecology

As a mother-to-be who is over three months pregnant, I have a family history of X-linked Fragile X syndrome.
However, before undergoing a blood test to check for this genetic complication, during an ultrasound examination, the doctor mentioned that the fetus does not seem to be doing well.
He described the situation as follows: 1.
The umbilical cord appears to be protruding or bursting out, and 2.
The fetal spine is only half the length it should be, with the lower half missing.
In simple terms, the fetus is abnormal! He advised me to return in a week to see if the baby has grown and if we can get a clearer picture.
If abnormalities are still confirmed, termination may be necessary.
At that moment, I felt a mix of emotions and didn’t ask many questions.
I would like to consult with the doctor about the possibility of change.
What could be the causes of such issues? Honestly, I’m unsure what to ask, and I would appreciate your opinions and insights!
Answer: Please visit a medical center's high-risk pregnancy clinic for a detailed examination.

Reply Date: 2018/06/22

More Info

Dear Expecting Mother,
First and foremost, I want to acknowledge the emotional turmoil you may be experiencing after receiving concerning news about your baby's health during your ultrasound. It’s completely normal to feel overwhelmed, anxious, and uncertain in such situations. I will do my best to provide you with a comprehensive understanding of fetal abnormalities detected by ultrasound, as well as potential next steps.

Ultrasound is a crucial tool in prenatal care, allowing healthcare providers to visualize the developing fetus and assess its growth and anatomical structure. In your case, the ultrasound findings suggest significant abnormalities, particularly regarding the umbilical cord and spinal development. The description of the umbilical cord appearing "protruded" or "bursting" could indicate issues such as an umbilical hernia or other vascular complications. The observation that the fetal spine is only partially developed raises concerns about possible congenital conditions, such as spina bifida or other neural tube defects.

Fetal abnormalities can arise from a variety of factors, including genetic conditions, environmental influences, and maternal health issues. Given your family history of Fragile X syndrome, it is essential to consider genetic counseling and testing. Fragile X syndrome is caused by a mutation in the FMR1 gene on the X chromosome, and it can lead to developmental delays and intellectual disabilities. While this condition primarily affects males, females can also be carriers and may exhibit milder symptoms.
In terms of the potential for change, it is important to understand that some fetal abnormalities can improve over time, while others may not. The growth and development of the fetus can sometimes lead to clearer images and more definitive diagnoses in follow-up ultrasounds. Your doctor’s recommendation to return in a week for further evaluation is standard practice, as it allows for monitoring of the fetus's growth and development.

If the abnormalities are confirmed in subsequent ultrasounds, the decision regarding the continuation of the pregnancy can be incredibly difficult. It is essential to have open and honest discussions with your healthcare provider about the implications of the findings, potential outcomes, and available options. This may include further diagnostic testing, such as amniocentesis, which can provide more information about the genetic makeup of the fetus and help assess the risk of specific genetic disorders.

Additionally, consider seeking support from a genetic counselor who can help you navigate the complexities of genetic testing and provide information tailored to your specific situation. They can assist in understanding the risks associated with your family history and the implications for your pregnancy.

In conclusion, while the news you received is undoubtedly distressing, it is crucial to approach the situation with as much information as possible. Follow up with your healthcare provider, ask questions, and consider seeking additional support from specialists. Remember, you are not alone in this journey, and there are resources available to help you through this challenging time.

Take care of yourself, and I wish you strength and clarity in the days ahead.

Best regards.

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