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:
Sickle cell disease
Neural tube defects
Any disease associated with a DNA mutation
Testing may consist of:
Maternal serum screening
Maternal serum markers
Preimplantation genetic diagnosis
Chorionic villus sampling (CVS)
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.
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