Negligent Prenatal Genetic Testing
Prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. In contrast, prenatal genetic diagnostic testing is intended to determine whether a specific genetic disorder or condition is actually present in the fetus. The purpose of prenatal screening for aneuploidy is to provide an assessment of the woman’s risk of carrying a fetus with one of the more common aneuploidies, or number of chromosomes (13, 18, 21, and the sex chromosomes XX and XY). This is in contrast to prenatal diagnostic testing for genetic disorders, in which the fetal chromosomes are evaluated for the presence or absence of abnormalities in chromosome number, deletions, and duplications, or the fetal DNA is evaluated for specific genetic disorders.
In 2007, the American College of Obstetricians & Gynecologists (ACOG) recommended fetal chromosomal screening to all pregnant patients regardless of age. The organization also urged physicians to provide information on detection and false positive rates, limitations of screening testing and diagnostic procedures, and the risks of such testing. Reaffirmed in 2013, ACOG’s recommendation is evidence of an established standard of practice for prenatal care.
The wide variety of screening and diagnostic test options, each offering varying levels of information and accuracy, has resulted in the need for complex counseling by the health care provider and complex decision making by the patient. Each test has relative advantages and disadvantages. It is important that obstetrician-gynecologists and other obstetric care providers be prepared to discuss not only the risk of aneuploidy but also the benefits, risks, and limitations of available screening and diagnostic tests. Testing for aneuploidy should be an informed patient choice, with an underlying foundation of shared decision making that fits the patient’s clinical circumstances, values, interests, and goals.
The number of wrongful abortion, wrongful life and/or birth suits alleging failure to properly diagnose chromosomal abnormalities utilizing conventional biochemical serum testing and diagnostic testing has resulted in staggering verdicts and settlements in recent years.
Noninvasive Prenatal Genetic Screening Test – NIPT
Noninvasive prenatal testing (“NIPT”) is a popular option for high risk pregnancy patients desiring to screen for chromosomal abnormalities. By analyzing fetal DNA circulating within the maternal blood, NIPT does not require an invasive procedure that involves extraction of fetal cells for chromosomal analysis; rather, it involves a simple blood test. NIPT use has become the screening test of choice for fetal aneuploidy.
However, as NIPT is available for all pregnant patients rather than just high risk patients, providers must be cognizant of the limitations of NIPT in that population and effectively communicate them to their patients. NIPT is screening and not diagnostic. Although NIPT has higher sensitivity to detect Trisomy 18 and 21 (three copies of the chromosome 18 or 21) when compared to conventional serum testing, false positives and negatives are still possible.
As a consequence of these limitations, medical professionals should recommend a diagnostic test for any patient with a positive/abnormal/suspected NIPT result. Management decisions, including termination of the pregnancy, should not be based on the results of the cell-free DNA screening alone. The informed consent discussion with the patient should be longer given the addition of NIPT to the prenatal screening regimen. Medical providers must also clarify patients’ misperceptions about the role of NIPT in prenatal diagnosis.
Invasive Prenatal Genetic Testing – Diagnostic Procedures
Chorionic Villus Sampling
Chorionic villus sampling, often referred to as CVS, is a diagnostic test for identifying chromosome abnormalities and other inherited disorders. This test may be recommended by a pregnant woman’s health care provider if her and her partner have family medical histories that reveal potential risks or when a screening test like the NIPT reveals a potential risk.
CVS is a diagnostic procedure which involves removing chorionic villi cells from the placenta at the point where it attaches to the uterine wall. CVS is usually performed between 11 and 13 weeks. The cells collected from the placenta are sent to the laboratory for analysis. Results can take anywhere from a few days to a couple weeks to be returned. CVS detects chromosome abnormalities (i.e. Down syndrome) and genetic disorders (i.e. cystic fibrosis.). This test is different from amniocentesis and has its own limitations in diagnosing aneuploidies present in the fetus (e.g., mosaicism). These limitations should be discussed at length with the patient when making pregnancy management decisions.
Amniocentesis is a diagnostic test that may be recommended by a health care provider following an abnormal triple test result. Inherited or genetic concerns lead some parents to choose amniocentesis to determine if specific genetic disorders may be present in their baby.
Amniocentesis detects chromosome abnormalities, neural tube defects, and genetic disorders. Down syndrome or Trisomy 21 is the most common chromosome abnormality. Genetic disorders include disorders such as cystic fibrosis. The most common neural tube defect is spina bifida.
Amniocentesis is usually performed between 14 and 20 weeks. A sample of amniotic fluid is collected through a needle. The amniotic fluid, which contains cells shed by the fetus, is sent to the laboratory for analysis. Results can take anywhere from a few days to a couple weeks to be returned. Again the limitations of this test, the potential for false positives/negatives and the potential for additional/confirmatory testing should be discussed at length with the patient when making pregnancy management decisions.
Medical Malpractice Claims Arising Out of Negligent Prenatal Genetic Testing
As in most medical malpractice cases, the majority of cases involving prenatal testing assert theories of negligence. The plaintiffs typically allege: that the healthcare professional failed to provide services within the standard of reasonable professional practice in the healthcare provider’s profession or specialty that existed at the time the care in question was rendered; that the healthcare professional failed to act in accordance with such a standard; and, as a proximate result, the injured person suffered injuries that would not otherwise have occurred. The majority of states define professional standard of care with regard to medical malpractice cases as the standard of professional conduct that would be expected from a reasonable physician.
Cases alleging malpractice in the provision of prenatal genetic testing arise in a number of contexts. These typically include allegations that a physician or genetic counselor was negligent in providing genetic counseling by failing to provide accurate information about potential reproductive risk based on age or carrier status, refusing requests to perform invasive procedures or failing to inform the patient about the need or availability of such procedures. Allegations that the physician was negligent in the selection of the laboratory that analyzed the genetic material or failed to interpret the test results correctly are also common. Other cases have been brought against laboratories alleging that carrier testing or invasive testing was negligently performed or the results were misinterpreted. Another fact pattern involving allegations of laboratory negligence or genetic counseling based on misinterpreted laboratory results involves plaintiffs claiming they would not have conceived if a previously born child had been correctly diagnosed with the condition that affected subsequent pregnancies or if they had been properly counseled about the risks of conceiving another affected child. These are commonly referred to as “wrongful birth” or “wrongful life” cases.
An emerging scenario involves allegations of laboratory negligence or genetic counseling based on incomplete or misinterpreted laboratory results where plaintiffs claim they would not have aborted a fetus had they been correctly diagnosed or if they had been properly counseled about the risks of choosing to terminate a pregnancy without further confirmatory test results. These are commonly referred to as “wrongful abortion” cases.
Reach Out to a Lawyer Today
If your child was born with a genetic condition and you were not advised of this possibility or tested for it, or, if you terminated a pregnancy because you were misinformed about test results and were not fully informed of your options for further testing and it turned out your baby would’ve been healthy, you should immediately contact the experienced attorneys at Levy Konigsberg, LLP.