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Can A Genetic Test Predict Birth Defects?

Early forms of genetic testing have been around for more than 50 years but genetic testing for pregnant mothers has really increased over the last couple of decades. Prenatal genetic testing can detect birth defects after only 10 weeks of pregnancy. These tests can inform parents and doctors about possible changes in the fetus’ genes or chromosomes before birth. 

Not all parents opt for a genetic test during pregnancy. However, doctors should be aware of certain risk factors and recommend a genetic test to understand the risks of birth defects and other problems that a genetic test can reveal. Failure to recommend a genetic test in high-risk situations could be a form of medical malpractice.

What a Prenatal Genetic Test Can Show

A prenatal genetic test can provide a lot of information for parents and for the doctors, including chromosomal abnormalities that can indicate possible birth defects. Some of the methods of prenatal genetic testing include: 

  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
  • Percutaneous Umbilical Cord Blood Sampling
  • Noninvasive Prenatal Testing (NIPT)

Amniocentesis and CVS are the most common genetic prenatal diagnostic procedures. Amniocentesis samples amniotic fluid from the uterus for testing. The fluid contains fetal cells and can be used for genetic tests, fetal lung testing, fetal infection tests, and paternity testing. Amniocentesis is usually performed at 15 to 20 weeks gestation. 

CVS tests use a catheter or needle to biopsy placental cells that are derived from the same fertilized egg as the fetus. The sample can be taken through the cervix or through the abdominal wall. The tests can be done as early as 10 weeks of pregnancy. Both amniocentesis and CVS carry some risk to the mother and fetus, including miscarriage and infection. 

When to Consider a Prenatal Genetic Test

There are higher risk factors for some parents who should consider amniocentesis or CVS tests. Some of the factors include: 

  • Positive results from prenatal screening tests
  • Chromosomal condition in a previous pregnancy
  • Neural tube defect in a previous pregnancy
  • Age 35 or older
  • Family history of a genetic condition
  • Partner with a genetic condition
  • Abnormal ultrasound findings

Doctors should be aware of these and other risk factors and when they should order a genetic test. Failure to order genetic testing may be a basis for a potential medical malpractice claim. 

Prenatal Genetic and Chromosomal Conditions

There are a number of birth defects, genetic conditions, and chromosomal conditions that amniocentesis and CVS can look for. This information can be important for parents to understand the risks of pregnancy and birth as well as for doctors to be prepared for potential problems during the development stage and labor. Some of these conditions and diseases include: 

  • Down syndrome (Trisomy 21)
  • Cystic fibrosis
  • Trisomy 13 (Patau syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Turner syndrome
  • Cri-du-Chat syndrome
  • Missing copies of the X chromosome or Y chromosome
  • Sickle cell disease
  • Tay-Sachs disease
  • Spinal muscular atrophy
  • Fragile X syndrome
  • Certain types of cancer

Philadelphia Birth Injury Lawyers

Many parents are devastated to find out that their child’s birth defect was detectable with a genetic test long before birth. However, some doctors may fail to convey the risk of a birth defect or disease to the parents. If your child was diagnosed with a genetic disorder that you never knew about, you can speak with a medical malpractice attorney. To discuss your child’s injury with a member of our legal team, fill out an online case evaluation form or call (800) 529-6162 today. 

About the Author

Briggs Bedigian
Briggs Bedigian

H. Briggs Bedigian (“Briggs”) is a founding partner of Gilman & Bedigian, LLC.  Prior to forming Gilman & Bedigian, LLC, Briggs was a partner at Wais, Vogelstein and Bedigian, LLC, where he was the head of the firm’s litigation practice.  Briggs’ legal practice is focused on representing clients involved in medical malpractice and catastrophic personal injury cases. 


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