Preauricular Sinus: Genetic Concerns and Reproductive Choices

Preauricular sinus

The occurrence of preauricular sinuses is caused by embryonic developmental abnormalities.
For example, a person in their twenties, of marriageable age, has preauricular sinuses in both ears and underwent surgery for a salivary gland cyst in childhood.
It is unclear whether these two conditions are related.
If there is known familial inheritance, with a cousin who is deaf-mute and a mother with hearing impairment, is there a need to use assisted reproductive technology to select healthy embryos to ensure the birth of a healthy baby? This is to prevent future concerns.

Yihuo zhe, 50~59 year old female. Ask Date: 2023/10/01

Dr. Li Jiaxuan reply Otolaryngology

Among preauricular fistula, salivary gland cysts, and hearing impairment, only hearing impairment has been confirmed as a hereditary condition that can be excluded through genetic testing.
Wishing you peace and health.

Reply Date: 2023/10/01

More Info

Preauricular sinus, also known as preauricular pit or preauricular cyst, is a congenital condition characterized by a small opening or pit located in front of the ear. This condition arises from incomplete development of the embryonic structures that form the ear during fetal development. While preauricular sinus itself is generally not associated with severe health issues, it can sometimes be linked to other ear abnormalities or syndromes.

In your case, you mentioned having preauricular sinuses in both ears and a history of surgery for a salivary gland cyst in childhood. While these two conditions are not directly related, they both stem from developmental anomalies that can occur during embryogenesis. It is important to note that preauricular sinuses can occur sporadically or as part of a genetic syndrome, especially if there is a family history of ear-related issues.

Given your family history, including a cousin who is deaf and a mother with hearing impairment, there may be a genetic component to your condition. Preauricular sinuses can sometimes be associated with genetic syndromes that affect hearing, such as branchio-oto-renal (BOR) syndrome or other auditory-related conditions. Therefore, it would be prudent to consult with a genetic counselor or a medical geneticist to assess the potential hereditary nature of your condition and the implications for your reproductive choices.

When considering reproductive options, particularly if you are contemplating artificial reproductive technologies (ART) such as in vitro fertilization (IVF), you may have the option to undergo preimplantation genetic testing (PGT). This allows for the selection of embryos that do not carry specific genetic markers associated with inherited conditions. If there is a known genetic mutation in your family that could lead to hearing impairment or other health issues, PGT can help ensure that you select embryos with a lower risk of these conditions.

It is essential to weigh the emotional and psychological aspects of these decisions. The desire to have a healthy child is a common concern for prospective parents, especially when there is a family history of genetic conditions. Engaging in discussions with healthcare professionals, including genetic counselors and reproductive specialists, can provide you with valuable information and support as you navigate these choices.

In summary, while preauricular sinus itself is often benign, your family history suggests a potential genetic predisposition to ear-related issues. Consulting with a genetic counselor can help clarify the risks and inform your reproductive choices. If you decide to pursue ART, PGT may be an option to consider for selecting healthy embryos. Ultimately, the decision should be based on a thorough understanding of the genetic risks involved and your personal values and preferences regarding family planning.

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