Abnormal High-Level Ultrasound Findings in Pregnancy

Q: Abnormal High-Level Ultrasound Findings in Pregnancy

Hello： Since both physicians have noted abnormalities, there is a possibility of a diaphragmatic hernia. <br>The newborn may require surgical treatment in the future. <br>It is recommended to seek prenatal care and delivery at a medical center specializing in pediatric surgery. <

High-level ultrasound abnormalities

Hello Dr.
Lu: I am currently pregnant with a due date of November 8, 2013.
Due to an initial screening for Down syndrome showing a nuchal translucency of 3.0 and unclear visualization of the nasal bone, I underwent chorionic villus sampling because the risk for Down syndrome was 1 in 47.
The results showed normal chromosomes, but due to the thick nuchal translucency, I opted for a high-level ultrasound on July 1, 2013, at my doctor's suggestion.
The ultrasound indicated that the stomach and heart appeared to be at similar heights, raising suspicion of a diaphragmatic hernia.
I sought a second opinion, and while a portion of the diaphragm was visualized, the stomach remained adjacent to the heart.
The doctor mentioned that there are currently no more aggressive interventions and that we can only monitor the situation.
I would like to ask if the first doctor mentioned that the diaphragm appears slightly S-shaped, could it be possible that the heart is positioned at the lowest point in the thoracic cavity while the stomach is at the highest point in the abdominal cavity, which would explain their similar heights? Additionally, does the fetal position (head up left, feet down) have any impact? Furthermore, the second doctor mentioned observing whether the lungs grow and push the stomach down to its normal position.
Has there been any clinical cases of this occurring? Since cases of diaphragmatic hernia are rare and the available information is limited, I would like to seek your expertise and experience.
Thank you!

Yun Mami, 20~29 year old female. Ask Date: 2013/07/05

Dr. Lü Lizheng reply Obstetrics and Gynecology

Hello: Since both physicians have noted abnormalities, there is a possibility of a diaphragmatic hernia.
The newborn may require surgical treatment in the future.
It is recommended to seek prenatal care and delivery at a medical center specializing in pediatric surgery.
Wishing you safety and health.
Sincerely, Dr.
Lu Li-Cheng, Director of the Department of Obstetrics and Gynecology, Taoyuan Hospital, Ministry of Health and Welfare.

Reply Date: 2013/07/05

More Info

Understanding abnormal high-level ultrasound findings during pregnancy can be quite complex, especially when dealing with potential issues such as diaphragmatic hernia. In your case, the initial findings of increased nuchal translucency (NT) and the subsequent normal results from chorionic villus sampling (CVS) indicate that while chromosomal abnormalities have been ruled out, there are still concerns regarding the structural development of the fetus.

High-level ultrasound is a specialized imaging technique that provides a detailed assessment of fetal anatomy and can help identify potential abnormalities. It is particularly useful in cases where initial screenings, such as the NT measurement, raise concerns. In your situation, the thickness of the NT and the unclear visualization of the nasal bone initially suggested a higher risk for Down syndrome, which prompted further testing. However, the normal chromosomal results from CVS are reassuring.

The concern regarding the diaphragm and the positioning of the stomach and heart is significant. In cases of congenital diaphragmatic hernia (CDH), the diaphragm does not form properly, allowing abdominal organs to move into the chest cavity, which can affect lung development and positioning of the heart and stomach. The observation that the stomach appears to be at the same height as the heart can indeed be indicative of a hernia, but it is essential to consider the overall context, including the position of the fetus and the quality of the imaging.

Fetal positioning can affect ultrasound imaging. If the baby is in a transverse or oblique position, it may obscure clear visualization of the diaphragm and surrounding structures. The S-shaped appearance of the diaphragm noted by the first physician could suggest some abnormality, but it is also possible that the imaging angle and fetal position contributed to this observation.
Regarding the second physician's comments about the lungs potentially pushing the stomach into a normal position, this is a valid consideration. In some cases of CDH, if the lungs are underdeveloped due to the hernia, they may not exert enough pressure to push the stomach down, leading to the observed abnormal positioning. Conversely, if the lungs are developing adequately, they may push the stomach into a more typical position as they grow.

It is important to continue monitoring the situation with follow-up ultrasounds. The management of suspected CDH often involves a multidisciplinary team, including obstetricians, pediatric surgeons, and neonatologists, who can provide a comprehensive approach to care. They will assess the severity of the condition, the development of the lungs, and the overall health of the fetus.

In summary, while the findings from high-level ultrasound can be concerning, they must be interpreted in the context of the entire clinical picture. Regular follow-up and consultations with specialists will be crucial in managing your pregnancy and preparing for the delivery. If you have further questions or concerns, do not hesitate to reach out to your healthcare provider for more personalized guidance.

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