Pre-Pregnancy Tests for Detecting Risk of Birth Defects: The Complete Guide

Pre-Pregnancy Tests for Detecting Risk of Birth Defects: The Complete Guide

"Life with a disability" (formerly known as Wrongful Birth) is one of the most complex and sensitive types of claims in medical malpractice. These are cases where a child is born with defects that could and should have been diagnosed during pregnancy - but doctors failed to diagnose them, thereby denying parents the opportunity to decide whether to terminate the pregnancy.

The key to preventing such cases begins before pregnancy - with pre-pregnancy tests designed to identify couples at high risk of having a child with genetic defects.

In this article we cover:

• What pre-pregnancy tests are
• Who they are recommended for
• Which defects can be identified
• What the doctor's duty is to refer for testing
• What happens when the doctor fails to refer

What is a "Wrongful Birth" Claim?

Before discussing the tests, it is important to understand the concept.

This refers to a claim by parents against a doctor or hospital, where:

• A child is born with a severe defect
• The defect could have been diagnosed during pregnancy (or before it)
• The doctor failed to diagnose the defect (or did not refer for appropriate testing)
• Had the parents known about the defect - they would have terminated the pregnancy

The claim: the doctor deprived the parents of the right to make an informed decision.

Example: A couple with a family history of a genetic disease. The doctor did not refer them for genetic counseling and testing. A child was born with the same disease. Had the parents known - they would have terminated the pregnancy. This is medical malpractice.

Why Are Pre-Pregnancy Tests Important?

Early identification of risk = prevention.

If a high risk is known in advance:

• Precise tests can be performed during the pregnancy
• Parents can be prepared for the possibility of a defect
• Options can be considered (IVF with embryo screening, adoption, forgoing pregnancy)

If risk is unknown:

• Parents are unaware of the risk
• Appropriate tests are not performed
• The defect is only discovered after birth - too late

Types of Pre-Pregnancy Tests

1. Genetic Counseling

This is the first and most important step.

What is genetic counseling? A meeting with a genetic counselor or geneticist who examines:

• Family history (of both partners)
• Genetic diseases in the family
• Ethnic background (some diseases are more common in certain populations)
• Parents' ages
• Exposure to risk factors (medications, radiation, infections)

What happens during counseling?

• Detailed discussion
• Building a pedigree (family tree)
• Risk assessment
• Recommendation for genetic testing (if needed)

Who should receive genetic counseling?

It is mandatory if:

• There is a family history of genetic disease (in either or both partners)
• A previous child has a defect or genetic disease
• The woman is over 35 (increased risk of chromosomal syndromes)
• The partners are related (cousins, etc.)
• Ethnic background with high risk (e.g., Ashkenazi Jews - Tay-Sachs; Arabs - thalassemia)
• Previous pregnancies ended in recurrent miscarriage
• Exposure to teratogenic medications (causing defects)

Also recommended for any couple who wants to be sure.

Real-life example: An Ashkenazi Jewish couple is planning a pregnancy. The doctor should offer genetic counseling and carrier testing for Tay-Sachs (a fatal genetic disease common in Ashkenazi Jews). If the doctor does not offer this - it is malpractice.

2. Genetic Carrier Screening

What is a "carrier"? A person who carries a defective gene but is themselves healthy (because they have another functional copy of the gene).

The problem: If both partners are carriers of the same disease - there is a risk the child will be affected!

Which diseases are tested?

A. Ashkenazi Jewish Panel:

• Tay-Sachs - fatal brain disease (the child dies at age 3-4)
• Familial Dysautonomia - neurological disease
• Canavan Disease - brain degeneration
• Gaucher Disease - storage disease
• And approximately 10-15 more diseases

B. Sephardic/Middle Eastern Panel:

• Familial Mediterranean Fever (FMF)
• Beta-Thalassemia - blood disease

C. Arab Panel:

• Thalassemia - blood disease
• Sickle Cell Anemia
• Additional rare diseases

D. Expanded Carrier Screening:

• Tests hundreds of genetic diseases
• Recommended for everyone (budget permitting)

How is the test performed?

• Simple blood test (or saliva)
• For both partners

Possible results:

1. Neither partner is a carrier - no risk
2. One partner is a carrier, the other is not - no risk
3. Both partners are carriers - risk!

What to do if both are carriers?

• In-depth genetic counseling
• Options:
  • IVF with Preimplantation Genetic Diagnosis (PGD) - only healthy embryos are selected
  • Invasive prenatal testing (CVS/amniocentesis) to check if the fetus is affected
  • Adoption
  • Use of donor sperm/egg
  • Decision to proceed with pregnancy with awareness of the risk

Real case example: An Ashkenazi Jewish couple. The doctor did not refer for Tay-Sachs carrier testing. A sick child was born. The infant suffered and died at age 3. The claim: had the doctor referred for testing - they would have discovered both were carriers and would have prevented the pregnancy or terminated it. The doctor was ordered to pay damages.

3. Advanced Genetic Testing

When is it performed?

• When there is a family history of a specific genetic disease
• When testing for a specific mutation is desired

Types of tests:

• Single gene testing (e.g., BRCA for breast cancer)
• Whole Exome Sequencing - tests all genes
• Whole Genome Sequencing - tests all DNA

Example: A family has cases of Muscular Dystrophy. Genetic testing is performed on the woman to determine if she is a carrier. If so - there is a 50% risk that a male child will be affected.

4. Fertility and Reproductive Health Tests

Not directly related to defects, but important:

Hormonal tests:

• Thyroid hormone levels (under/overactive thyroid affects pregnancy)
• Diabetes (uncontrolled diabetes = risk of defects!)

Infection tests:

• Rubella (German measles) - if the woman was not vaccinated, vaccination is needed before pregnancy
• Toxoplasma - important to know if immune
• CMV (Cytomegalovirus)
• HIV, Hepatitis

Why is this important? Infections during pregnancy can cause severe defects!

Example: A woman who was not vaccinated against rubella contracts the disease in early pregnancy. Rubella causes congenital rubella syndrome - hearing, heart, and eye defects. This is entirely preventable by vaccination before pregnancy!

The Doctor's Duty to Refer for Pre-Pregnancy Tests

When must the doctor refer?

The rule: a doctor must refer for genetic counseling/testing when known risk factors are present.

Risk factors:

• Family history of genetic disease
• Age over 35
• Ethnic background with high risk
• Previous child with a defect
• Related partners
• Recurrent miscarriages
• Exposure to risk factors

If a risk factor exists and the doctor does not refer - this is medical malpractice!

What must the doctor explain?

Duty of disclosure: The doctor must explain:

• What the risks are
• What tests are available
• The advantages and disadvantages of each test
• The cost of the tests (are they covered by health insurance or not?)

Informed consent: Parents must decide themselves whether to undergo testing - after receiving all the information. The doctor cannot decide for them!

What happens if the doctor does not refer?

If the doctor did not refer for tests and a child is born with a detectable defect - this is malpractice.

Example from a court ruling: A couple aged 40 and 38. The doctor did not offer genetic testing (despite their age). A child was born with Down syndrome. The court ruled: the doctor was obligated to offer testing. Had the doctor offered it - the parents would have undergone amniocentesis, discovered the syndrome, and terminated the pregnancy. The doctor was ordered to pay damages.

Tests Covered by Health Insurance vs. Out-of-Pocket Tests

Tests covered by health insurance (no cost)

Tests included in the health basket:

• Genetic counseling (in certain cases)
• Basic carrier screening (depending on ethnic background)
• Basic prenatal tests

However: the health basket does not cover everything!

Tests not covered (out-of-pocket)

• Expanded carrier panel (tests hundreds of diseases) - cost: approx. $300-$900
• Whole exome/genome sequencing - cost: approx. $1,500-$6,000
• PGD (preimplantation genetic diagnosis) - cost: approx. $6,000-$12,000

Doctor's duty to recommend out-of-basket tests

The legal question: Is a doctor required to offer tests not covered by insurance?

The answer: Yes!

The rule: if there is a significant risk of a severe defect, the doctor must offer tests even if they are not covered - even if they cost money.

Example: A couple with a family history of Fragile X Syndrome (a leading cause of intellectual disability). The test is not covered by insurance. The doctor must offer it and explain that it involves a cost. If the doctor does not offer it - this is medical malpractice.

Why? Because the doctor's duty is to provide the best information - not only what is covered by insurance.

Cases Where Pre-Pregnancy Tests Would Have Prevented Tragedy

Case 1: Undiagnosed Tay-Sachs

What happened: An Ashkenazi Jewish couple, both in their 30s. The doctor did not refer for Tay-Sachs carrier testing. A baby was born who appeared healthy at first, but at 6 months signs began to appear: loss of skills, weakness, blindness. Diagnosed with Tay-Sachs. The infant suffered and died at age 3.5.

What would have happened with testing: A simple blood test would have revealed that both were carriers. They could have done IVF with PGD, undergone amniocentesis and terminated if the fetus was affected, or decided not to proceed with pregnancy.

The claim: The parents sued the doctor. The court ruled in their favor - the doctor was obligated to offer the test.

Case 2: Down Syndrome - Failure to Offer Tests at Advanced Age

What happened: A 42-year-old woman became pregnant. The doctor did not offer amniocentesis (despite her age!). A child was born with Down syndrome with moderate-to-severe intellectual disability and heart problems.

What would have happened with testing: Amniocentesis would have detected the syndrome. The parents (who stated they would have terminated) would have terminated the pregnancy.

The claim: The court ruled: a doctor must offer amniocentesis to women over 35. Failure to offer this is malpractice.

Case 3: Rare Genetic Disease - Failure to Refer for Genetic Counseling

What happened: A couple whose first child died from Spinal Muscular Atrophy (SMA) - a fatal genetic disease. The doctor did not refer for genetic counseling before the second pregnancy. A second child was born - also with SMA.

What would have happened with counseling: Genetic counseling would have identified that both were carriers. They would have done PGD or invasive testing during pregnancy. A second sick child would have been prevented.

The claim: The court: a doctor who knows about a genetic disease in a previous child must refer for genetic counseling before another pregnancy.

Tips for Prospective Parents

1. Take responsibility - do not rely solely on your doctor

Even if the doctor does not suggest - ask! Questions to ask: "Are we at risk for genetic diseases?", "Is genetic counseling recommended for us?", "Which carrier screening tests are appropriate for us?", "What about tests not covered by insurance?"

2. Research your family history

Before seeing the doctor: talk to family members, find out if there are genetic diseases, defects, or intellectual disabilities, and build a medical "family tree." This will help the doctor assess risk.

3. If risk factors exist - insist on genetic counseling

If you are over 35, have a family history, are from an ethnic background with high risk, or are related - demand genetic counseling even if the doctor does not suggest it.

4. Keep documentation

Document what the doctor said, what was and was not offered, and if you declined tests. Should a defect be discovered - this will be relevant to any claim.

5. Get an explanation of costs

If a test is not covered - ask how much it costs. It is better to pay for a test than to live with a sick child without having had a choice.

Summary - Key Points

• Pre-pregnancy tests can identify at-risk couples before pregnancy begins
• Genetic counseling is the first and most important step
• Carrier screening can prevent the birth of children with fatal genetic diseases
• The doctor must refer when risk factors exist - including for tests not covered by insurance!
• Failure to refer for tests = malpractice (if a risk factor exists)
• Take responsibility - do not rely only on your doctor, ask questions!
• Document everything - what was said, what was offered, what was not
• Prevention is better than litigation! Pre-pregnancy tests can prevent tragedies

Contact us to speak with an attorney specializing in medical malpractice if you believe a doctor failed to refer you for appropriate testing.

This article provides general information only and does not constitute medical or legal advice.