Genetic Disorders and Prenatal Screening Explained

Helping families whose children were undiagnosed with genetic conditions by NJ doctors

Today, the standard of medical care requires that all women must be offered certain screening tests during pregnancy. Since many genetic disorders and birth defects are more common in certain ethnic groups, and are often linked through family history, the first prenatal screening tests typically come via history, pedigree analysis, and carrier screening. If your doctor does not perform these screenings, and your child is born with a severe, potentially life-threatening birth defect, you may be able to make a claim for wrongful birth.

Eichen Crutchlow Zaslow, LLP, provides comprehensive representation for New Jersey families struggling to protect their children and their futures. Genetic disorders can lead to exorbitant medical costs that last for years, and emotional costs that can last a lifetime. Please call our NJ wrongful birth attorneys to learn more about your rights and options.

How can you know if your child could have a birth defect?

There are many genetic disorders and birth defects that can be detected by proper prenatal screening and testing. But first, parents should be asked about their family and medical histories. These histories should identify risk factors for genetic disorders, and must include the race, religion, and ethnicity of both parents as well as the presence of genetic disorders or carrier status of the parents and relatives. Specialists in genetic screening through family history and pedigree analysis are called genetic counselors.

Carrier blood screening tests must be done for genetic defects that are more common in different ethnic groups. Ideally, carrier screening should be performed even before conception; however, if you and your partner were not tested before pregnancy, then both parents should immediately be tested upon learning one of you is pregnant. If the mother’s test is positive, then the father’s blood must be tested, and further diagnostic studies, such as amniocentesis or chorionic villi sampling, can then determine whether that pregnancy is afflicted with a genetic defect.

First Trimester Screening

In addition to taking a family history, a pedigree analysis, genetic counseling and carrier screening, there is a two-part prenatal screening test that is performed during the first trimester between 10-14 weeks of pregnancy. The first part of this test, called a nuchal translucency test, is an ultrasound examination which measures the translucent space at the back of the neck (nuchal) of the fetus and can be helpful in detecting Down syndrome. The second part of the first trimester screen measures the mother’s blood for two substances, PAPP-A (pregnancy-associated plasma protein-A) and hCG (human chorionic gonadotropin). The combined results of the nuchal translucency and first trimester blood test help identify fetuses at an increased risk of chromosomal disorders including Down syndrome and fetuses at an increased risk for cardiac defects.

When the nuchal translucency is increased but the blood test is normal, the test also helps to detect fetuses that may have a cardiac defect and require a targeted ultrasound.

Second Trimester Screening

A “Quad Screen” is a maternal blood test done between 16 and 18 weeks. The timing of the test is extremely important as some of the substances measured only provide accurate information at certain points in the pregnancy. As such, the dating of the pregnancy must be correct, or the results may be misleading. The mother’s blood is analyzed for the presence of four substances: hCG (human chorionic gonadotropin), AFP (alpha-fetoprotein), inhibin A and UE3 (estriol). Quad Screen results show whether a fetus is at increased risk for neural tube defects like spina bifida, chromosomal disorders like trisomy 18 and 21 (Down syndrome),  and even abdominal wall defects. Patients who have abnormal Quad Screen results must be offered further testing, such as a targeted ultrasound or amniocentesis, so that a diagnosis can be made with certainty.

It should be noted that although Quad Screen tests are highly accurate in identifying neural tube defects they often provide a false sense of security to parents regarding Down syndrome since they are only approximately 70% accurate in identifying fetuses with Down syndrome.

Fetal Anatomical Survey Ultrasound

Ultrasound is a technique that uses sound waves to visualize organs within the human body. When performed and interpreted correctly, ultrasounds allow medical care providers to gain important health information about the fetus without any risk to the mother or the fetus. Between 16 to 22 weeks gestation, an ultrasound examination is performed to assess the fetal anatomy. This ultrasound is typically called a “Fetal Anatomical Survey.” During this ultrasound the interpreting physician checks whether the fetus is growing properly, the anatomy of the baby is normal and not discordant or disproportionate in size, the dating of the pregnancy is correct, and there are no abnormalities. The measurements of the anatomy and cardiac views taken during this ultrasound are used to calculate risk and a thorough examination can help identify fetuses at increased risk for spina bifida and other neural tube defects, brain defects, cardiac defects, Down syndrome, and missing organs and bones.

Targeted Ultrasounds and Genetic Sonograms

A Targeted Ultrasound must be offered to women who may be at an increased risk of having a baby with a genetic disorder and/or birth defect or complication. If there is a family history of any genetic disorder or birth defect, or if the mother is considered to be of advanced maternal age, had an abnormal blood test, had a prior ultrasound that may have been abnormal, or if any of the prior screening tests are inconclusive or indicate the mother is at an increased risk of carrying a fetus with a genetic disorder or birth defect, the mother must be offered a Targeted Ultrasound.

Targeted Ultrasounds assess the overall growth and development of a baby and screen for birth defects and genetic conditions. For this reason, Targeted Ultrasounds are often called Genetic Sonograms. Since the mid-1980s, physicians have identified fetal anatomical signs, or “markers,” which are associated with Down syndrome, trisomy 18 and trisomy 13, and other genetic disorders. Targeted ultrasounds must be carefully performed and interpreted because the presence of any of these markers means there is a substantial risk the fetus has a genetic disorder or birth defect. Additionally, Targeted Ultrasounds can detect birth defects such as cleft lip, open neural tube defects such as spina bifida, heart defects, and hydrocephaly.

Conditions that screening can identify

Not all genetic defects can be determined in utero, and some cannot be diagnosed until much later in a pregnancy. The following genetic conditions and birth defects are some that can be diagnosed early in a pregnancy:

Down syndrome (Trisomy 21). Down syndrome is caused by the inclusion of an extra copy of the 21^st chromosome, and is also called Trisomy 21. Down syndrome results in:

• Cognitive impairment
• Physical malformations, including facial stigmas and short stature
• A shortened life expectancy
• An increased risk for cardiac defects, leukemia, early onset of Alzheimer’s disease, gastrointestinal problems, and dementia

With proper prenatal screening and testing, Down syndrome can be detected during the first two trimesters of pregnancy.

Tay-Sachs disease. Tay-Sachs disease is a progressive neurological genetic disorder. Tay-Sachs disease is caused by the absence or insufficient level of a vital enzyme called Hexosaminidase A (Hex-A). Without Hex-A, a fatty substance (or lipid) called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. The disease stems from a mutation of the 15th chromosome and is most common among Ashkenazi Jews, Canadians, and Cajuns. Babies with Tay-Sachs disease appear “normal” at birth and develop normally during the first months of their life. However, because they are missing necessary enzymes, fatty proteins build up; this can lead to

• Cognitive disabilities
• Hearing problems
• Vision problems
• Muscle weakness
• Poor motor skills
• Seizures

Tay-Sachs disease ultimately causes a very premature and painful death.

Cystic Fibrosis. The gene causing cystic fibrosis (CF) was identified in 1989, and screening for the condition has been offered to pregnant patients since the mid-1990s. Cystic fibrosis is inherited in a recessive fashion, meaning that both parents have to be carriers for a child to be born with the disorder. Cystic fibrosis is a genetic disorder affecting multiple organ systems including the digestive system, pancreas, liver, intestines, sinuses, and respiratory system. The defective gene resulting in cystic fibrosis causes mucus to become perniciously thick and sticky. In terms of digestive problems this thick, sticky mucus blocks pancreatic ducts. As a result, digestive enzymes that are produced by the pancreas cannot reach the small intestine. The effects on the respiratory system are the most serious problem for people with CF. The thick mucus builds up in the lungs and blocks the airways, allowing bacteria to grow in the lungs and resulting in serious lung infections, lung damage, and ultimately respiratory failure. Today, the average life expectancy of people with cystic fibrosis is 37, but children born between 2012 and 2016 may have a life span of 43.

Thalassemia (Thalassemia Major). Thalassemia is a genetic blood disease that can be detected prenatally and is most frequent among people of Mediterranean origin. Children who survive this disorder require lifelong transfusions and extensive medical care, and usually die of heart failure and related infection.

Spina bifida (Neural Tube Defects). Neural tube defects are disorders involving incomplete development of the brain, spinal cord, and/or their protective coverings. Spina bifida is a neural tube defect caused by the failure of the fetal spine to properly develop or close. With proper prenatal screening and testing, neural tube defects should be detected during the first two trimesters of pregnancy.

Sickle Cell Disease. Sickle cell disease is an inherited genetic blood disorder that is most common among African-Americans and Hispanics. It affects the body’s ability to manufacture healthy red blood cells. Sickle cell disease frequently causes severe pain, life-threatening infection, delayed growth, and organ damage. It also causes extreme fatigue, a sign of sickle cell anemia.

Congenital Heart Defects (CHDs) and Cardiac Malformations. Many congenital heart defects (CHDs) and cardiac malformations can be detected prenatally. Prenatal diagnosis of congenital heart diseases (CHD) or defects may be suspected during a routine ultrasound. Patients with a potential cardiac abnormality on ultrasound should be sent to specialists who handle high-risk pregnancies. Many congenital heart defects are associated with genetic and chromosomal abnormalities such as Down syndrome, and when a cardiac defect is suspected further testing for chromosomal abnormalities is required.

The type of cardiac defect detected prenatally may affect how and where the baby should be delivered. The standard of care requires that babies with certain cardiac defects be delivered at a hospital that has a level III Neonatal Intensive Care Unit (NICU), pediatric cardiologists, and cardiothoracic surgeons on staff to confirm the diagnosis and provide the requisite care for the baby immediately after delivery. For some heart diseases the administration of prostaglandins is necessary to prevent shock and maintain the heart circulation and communication between the heart’s chambers. The failure to detect a cardiac defect prenatally may result in the failure to detect a chromosomal abnormality and/or the failure to administer timely treatment at birth necessary to prevent further damage to the heart and other organs, shock, and death.

Making a claim for wrongful birth in New Jersey

Under the law, a woman may terminate a pregnancy at any time, for any reason, up to 24 weeks. During the first 14 weeks, this legal medical procedure can be performed at a licensed facility; after 14 weeks, it must be performed at a hospital. Being denied access to this procedure, or being misinformed about your rights or your current gestational period, could be a form of medical malpractice.

The New Jersey medical malpractice lawyers at Eichen Crutchlow Zaslow, LLP regularly handle wrongful birth cases, and cases involving negligent prenatal screening. Because of our experience in these types of cases, we are familiar with the medically complex – but frequently frivolous – defenses used by defendant physicians, their insurance companies, and their attorneys. Our NJ wrongful birth attorneys have obtained significant verdicts and settlements on behalf of our clients, including:

• $4.65 million recovery in a Wrongful Birth/Down Syndrome Case
• $3.8 – $7.1 million recovery in Wrongful Birth/ Cystic Fibrosis Case (final amount will depend on the lifespan of the child)
• $3.5 million verdict for undiagnosed Hirschsprung’s disease
• $2 million recovery in Wrongful Birth/Down Syndrome Case

We understand that these cases can be emotionally draining for parents. We review your case, examine your medical records, work with outside experts, and do whatever is necessary to ensure that your future is secure.

Speak with an experienced NJ wrongful birth lawyer to learn about your rights

If your child was born with a genetic disorder or birth defect, you may be able to make a claim for damages. Please contact the NJ medical malpractice lawyers of Eichen Crutchlow Zaslow, LLP by phone at 732-777-0100 or online. We maintain offices in Edison, Toms River, and Red Bank, and represent clients throughout New Jersey.