| Gorovitz & Borten, P.C. Attorneys at Law 550 Cochituate Road, Suite 25 Framingham, Massachusetts 01701 Tel: (781) 890-9095 |
| Birth Defects |
The two leading causes of infant mortality are prematurity and congenital
malformations. Up to 2% of infants have a significant structural abnormality and up
to another 3% will have a single gene disorder that will manifest itself before age 25.
Thus, all conceptions have up to 5% probability of an abnormal fetal outcome. Until
recently, basic preconception or prenatal screening consisted of a combination of a
positive family history, maternal serum screening and ultrasound surveillance at
certain stages of gestation.
Family history remains one of the most important identifiers of genetic risk.
Therefore, a family history that does not include information of members with birth
defects, mental retardation or a known genetic disorder is an incomplete medical
history for genetic counseling purposes. Geographic and ethnic background must
also be documented because that may represent the only marker of a known
genetic risk for a particular patient.
Most known genetic disorders can be diagnosed if a DNA mutation is associated
with the disease. Most couples or women with a positive history considering
pregnancy should be referred for genetic counseling before conception, or in the
alternative, as early in the pregnancy as possible.
Conditions amenable to early genetic diagnosis include:
Testing may consist of:
In the past, maternal age at the time of delivery was used to identify women at risk
for genetic abnormalities. The age of 35 was selected because the risk of delivering
a liveborn with trisomy was equal to the risk associated with an amniocentesis at
that age. At the present time, such recommendation should be considered obsolete.
Prior medical and family history as well as abnormal screening tests (ultrasound,
serum markers) require additional genetic testing be performed.
If the child's injury was diagnosable, avoidable or preventable, or plainly resulted
from a medical provider's mistake in handling an obstetrical condition, the parents
and the child are entitled to receive compensation. If your child's condition was the
result of medical negligence, we can help you assert your rights and get the
compensation you deserve.
malformations. Up to 2% of infants have a significant structural abnormality and up
to another 3% will have a single gene disorder that will manifest itself before age 25.
Thus, all conceptions have up to 5% probability of an abnormal fetal outcome. Until
recently, basic preconception or prenatal screening consisted of a combination of a
positive family history, maternal serum screening and ultrasound surveillance at
certain stages of gestation.
Family history remains one of the most important identifiers of genetic risk.
Therefore, a family history that does not include information of members with birth
defects, mental retardation or a known genetic disorder is an incomplete medical
history for genetic counseling purposes. Geographic and ethnic background must
also be documented because that may represent the only marker of a known
genetic risk for a particular patient.
Most known genetic disorders can be diagnosed if a DNA mutation is associated
with the disease. Most couples or women with a positive history considering
pregnancy should be referred for genetic counseling before conception, or in the
alternative, as early in the pregnancy as possible.
Conditions amenable to early genetic diagnosis include:
- Cystic fibrosis
- Tay-Sachs disease
- Thalassemia
- Sickle cell disease
- Down's syndrome
- Neural tube defects
- Spina Bifida
- Trisomy 13
- Trisomy 18
- Any disease associated with a DNA mutation
Testing may consist of:
- Ultrasound
- Maternal serum screening
- Maternal serum markers
- Preimplantation genetic diagnosis
- Chorionic villus sampling (CVS)
- Amniocentesis
- Fetal cordocentesis (PUBS)
In the past, maternal age at the time of delivery was used to identify women at risk
for genetic abnormalities. The age of 35 was selected because the risk of delivering
a liveborn with trisomy was equal to the risk associated with an amniocentesis at
that age. At the present time, such recommendation should be considered obsolete.
Prior medical and family history as well as abnormal screening tests (ultrasound,
serum markers) require additional genetic testing be performed.
If the child's injury was diagnosable, avoidable or preventable, or plainly resulted
from a medical provider's mistake in handling an obstetrical condition, the parents
and the child are entitled to receive compensation. If your child's condition was the
result of medical negligence, we can help you assert your rights and get the
compensation you deserve.
Contact Information
If you, your child or a member of your family have been injured as a result of a
failure to diagnose a genetic condition, deficient medical treatment or failure to be
properly treated, please let Dr. Borten and the Boston area medical malpractice
attorneys at Gorovitz & Borten evaluate your case.
For a free confidential consultation and receive a response within 24 hours (when
possible), please contact us by phone, fax or e-mail with your question or concern.
Telephone: 781-890-9095 - Fax: 781-890-9098
Directions
Electronic mail:
Questions or Inquiries to: inquiry@gbmedlaw.com
If you, your child or a member of your family have been injured as a result of a
failure to diagnose a genetic condition, deficient medical treatment or failure to be
properly treated, please let Dr. Borten and the Boston area medical malpractice
attorneys at Gorovitz & Borten evaluate your case.
For a free confidential consultation and receive a response within 24 hours (when
possible), please contact us by phone, fax or e-mail with your question or concern.
Telephone: 781-890-9095 - Fax: 781-890-9098
Directions
Electronic mail:
Questions or Inquiries to: inquiry@gbmedlaw.com
Website disclaimer: The materials on this website have been prepared by Gorovitz &
Borten, P.C. for informational purposes only and are not intended, and should not be construed
as legal advice. This information is not intended to create and receipt of it does not constitute a
lawyer-client relationship. Similarly, any submission or receipt of information using electronic
"Contact Us" form does not create a lawyer-client relationship. Internet and online readers
should not act upon any of the information contained on this website without seeking
professional counsel. (See Terms and Conditions).
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