Understanding Trisomy Disorders in Grand Rapids, Michigan

Trisomy disorders are genetic conditions that affect many families across Michigan, including here in Grand Rapids. Local healthcare systems such as Spectrum Health, Trinity Health Grand Rapids, University of Michigan Health–West (Metro Health), and Mercy Health offer specialized prenatal care, genetic counseling, and pediatric support for families navigating these diagnoses.

Genes and Chromosomes: The Body’s Blueprint

Almost every cell in the body carries a complete “blueprint” of instructions that tells the body how to grow and function. These instructions are stored in the nucleus of the cell in the form of:

  • DNA (deoxyribonucleic acid) – the chemical substance that carries genetic information
  • Genes – segments of DNA that control specific traits and functions
  • Chromosomes – long strands of DNA that carry many genes

Humans typically have 46 chromosomes, arranged in 23 pairs:

  • 22 pairs of “non-sex” chromosomes that control growth, development, and body functions
  • 1 pair of sex chromosomes (XX or XY) that determine sex

A chromosome condition occurs when there is a change in the number or structure of chromosomes.

What Is a Trisomy Disorder?

“Trisomy” literally means “three bodies.” In a trisomy disorder, a person has three copies of a particular chromosome instead of the usual two. This means they have 47 chromosomes instead of 46.

The most common trisomy disorders are:

  • Down syndrome (Trisomy 21)
  • Edward syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)

Children with trisomy disorders usually have:

  • A range of birth anomalies
  • Developmental delays
  • Intellectual disabilities of varying degrees

The extra chromosome usually appears spontaneously at conception.
The exact cause is unknown, and there is currently no way to prevent trisomy disorders.

Trisomy Risk Factors in Grand Rapids: The Role of Maternal Age

The most important risk factor for trisomy conditions is maternal age. Women who are in their late 30s and 40s have a higher chance of having a pregnancy affected by a trisomy condition.

In Michigan, Down syndrome affects about 1 in 300 pregnancies. While local numbers in Grand Rapids may vary year to year, this is similar to what providers at Spectrum Health and other Grand Rapids hospitals see in regional prenatal clinics.

Cold winters and variable seasonal conditions in West Michigan do not cause trisomy disorders. However, they can affect prenatal care access (for example, difficulty traveling to appointments during snow and ice), making it especially important for expectant parents in Grand Rapids to stay connected with their healthcare team.

Down Syndrome (Trisomy 21)

Down syndrome is the most common trisomy disorder. It is called Trisomy 21 because the person has three copies of chromosome 21 instead of two.

Types of Down Syndrome

There are three main types of Down syndrome:

  1. Standard (Full) Trisomy 21

    • The most common type.
    • The sperm or egg cell contains an extra copy of chromosome 21.
    • All cells in the body have three copies of chromosome 21.

  2. Mosaic Down Syndrome

    • The extra chromosome appears after conception, as the embryo is developing.
    • Some cells have the extra chromosome 21 and some do not.
    • Features and developmental impact may be milder, but this varies widely.

  3. Translocation Down Syndrome

    • Accounts for about 5% of cases.
    • Part or all of chromosome 21 is attached (translocated) to another chromosome.
    • This form can be inherited, so genetic counseling is important for family planning.

Common Physical Characteristics of Down Syndrome

People with Down syndrome may have:

  • A flatter facial profile
  • Smaller stature – babies are usually smaller and weigh less at birth
  • Slower growth – children often remain smaller than peers
  • Adults who are shorter than average

All individuals with Down syndrome will have:

  • Developmental delays
  • Some degree of learning disability

However, the range of abilities is wide, and many children with Down syndrome in Grand Rapids attend local schools, participate in community programs, and receive support through Michigan’s early intervention and special education services.

Edward Syndrome (Trisomy 18)

Edward syndrome, or Trisomy 18, occurs when a person has three copies of chromosome 18. In Michigan, Edward syndrome affects about 1 in 1,100 pregnancies.

Features of Edward Syndrome

Some possible characteristics of Trisomy 18 include:

  • Abnormalities of the hands and feet, such as:
    • Overlapping fingers
    • Missing thumbs
    • Club feet
  • Webbing between fingers or toes (syndactyly)
  • Neural tube defects, such as:
    • Myelomeningocele – the spinal cord and blood vessels protrude through a gap in the vertebrae
  • Malformations of the sex organs
  • Structural abnormalities of the:
    • Kidneys and ureters
    • Heart
    • Lungs
    • Diaphragm
  • Small head size (microcephaly)
  • Cleft lip or cleft palate

Unfortunately, survival beyond the newborn (neonatal) period is uncommon for babies with Edward syndrome. Some babies may live longer with intensive medical support, but this is rare. Families in Grand Rapids may work closely with neonatal intensive care units (NICUs) at Spectrum Health or Trinity Health Grand Rapids for guidance and support.

Patau Syndrome (Trisomy 13)

Patau syndrome, or Trisomy 13, occurs when a person has three copies of chromosome 13. In Michigan, Patau syndrome affects roughly 1 in 3,000 pregnancies.

Features of Patau Syndrome

Some possible characteristics of Trisomy 13 include:

  • Neural tube defects, such as:
    • Myelomeningocele – spinal cord, meninges, and blood vessels protrude through a gap in the vertebrae
  • Malformations of the sex organs
  • Small head size (microcephaly)
  • Abnormal openings in the skull
  • Brain malformations
  • Structural defects of the eyes
  • Cleft lip and/or cleft palate
  • Extra fingers or toes (polydactyly)
  • Congenital heart defects, such as:
    • Ventricular septal defect (a hole between the lower chambers of the heart)

As with Trisomy 18, survival beyond the neonatal period is uncommon for babies with Patau syndrome. Compassionate care and palliative support are available through local hospitals and hospice programs in the Grand Rapids area.

Signs of Trisomy Conditions During Pregnancy

Some signs of a trisomy condition may be seen during pregnancy, often during routine prenatal care. Possible findings include:

  • Too much amniotic fluid around the baby (polyhydramnios)
  • Only one umbilical artery in the umbilical cord instead of two
  • A smaller than expected placenta
  • A baby who is small for gestational age on ultrasound
  • A baby who is less active than expected
  • Congenital anomalies seen on ultrasound, such as:
    • Cleft lip or cleft palate
    • Heart defects
    • Brain or spinal abnormalities

In Grand Rapids, these signs are often picked up during prenatal visits at OB/GYN practices affiliated with Spectrum Health, Trinity Health, Metro Health, or Mercy Health, and may lead to referral to a maternal-fetal medicine specialist.

How Trisomy Disorders Are Diagnosed

Several prenatal tests can help detect trisomy disorders. These may be offered based on maternal age, screening results, or ultrasound findings.

Screening Tests

These tests estimate the chance of a trisomy condition but do not give a definite diagnosis.

  • Ultrasound scans

    • Use sound waves to create images of the baby.
    • Can identify structural abnormalities (e.g., heart defects, neural tube defects).

  • Maternal serum screening

    • A specialized blood test done during pregnancy.
    • Measures certain substances in the mother’s blood to estimate the risk of conditions such as Trisomy 21, 18, and 13.

  • Non-Invasive Prenatal Testing (NIPT)

    • A blood test that analyzes fetal DNA circulating in the mother’s blood.
    • Very good at detecting risk for Down syndrome, Edward syndrome, and Patau syndrome, but still considered a screening, not a diagnostic test.

Diagnostic Tests

These tests provide a definitive diagnosis, but they are invasive and carry a small risk of miscarriage.

  • Chorionic Villus Sampling (CVS)

    • A small sample of cells is taken from the chorion, the tissue that will become the placenta.
    • The chromosomes of these cells are examined for trisomy conditions.
    • Usually performed in the first trimester.

  • Amniocentesis

    • A sample of amniotic fluid is taken from around the baby using a thin needle.
    • The fetal cells in the fluid are examined for chromosomal abnormalities.
    • Usually performed in the second trimester.

In Grand Rapids, these procedures are typically performed by maternal-fetal medicine specialists at major hospital systems, with follow-up support from genetic counselors and pediatric specialists.

Genetic Counseling and Support in Grand Rapids

If your child has been diagnosed with a trisomy condition, speaking with a genetic counselor can be very helpful.

What Genetic Counselors Do

Genetic counselors are health professionals trained in both genetics and counseling. They can:

  • Explain your child’s diagnosis and what it means for health and development
  • Discuss the cause of the condition and whether it is likely to be inherited
  • Review testing options for other family members or future pregnancies
  • Provide emotional support and help you process information and choices
  • Offer information that is sensitive to your family’s culture, values, and beliefs
  • Connect you with local and national support groups

In West Michigan, genetic counseling services are available through:

  • Hospital-based genetics clinics (e.g., Spectrum Health, Trinity Health Grand Rapids, Metro Health)
  • Regional clinical genetics services
  • Telehealth genetic counseling options

The Genetic Support Network of Michigan (GSNV) is connected with a wide range of support groups across Michigan and the United States and can link Grand Rapids families with others affected by trisomy conditions.

National organizations such as SOFT (Support Organization for Trisomy) also provide education and peer support for families of children with Trisomy 13 and 18.

Local Resources for Families in Grand Rapids, MI

If you live in the Grand Rapids area and are dealing with a trisomy diagnosis or have concerns about a pregnancy, you may find help through:

  • Your primary care provider or OB/GYN
    For initial screening, referrals, and ongoing prenatal care.

  • Pediatricians and Neonatologists
    For care immediately after birth and ongoing management.

  • Major Grand Rapids Healthcare Systems

    • Spectrum Health
    • Trinity Health Grand Rapids
    • University of Michigan Health–West (Metro Health)
    • Mercy Health

  • Kent County Health Department / Grand Rapids Public Health

    • Information on maternal-child health programs
    • Referrals to early intervention and developmental services

  • Clinical Genetics Services in Michigan

    • Hospital-based genetics departments
    • Statewide genetics networks and telehealth services

  • Support Organizations

    • SOFT (Support Organization for Trisomy)
    • Genetic Support Network of Michigan (GSNV)
    • Local parent support groups and special needs organizations in West Michigan

Always verify current phone numbers and contact details with your healthcare provider or via official websites, as they can change over time.

Key Points About Trisomy Disorders

  • A chromosome condition is caused by a change in the number or structure of chromosomes.
  • Trisomy means there are three copies of a chromosome instead of two.
  • Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18), and Patau syndrome (Trisomy 13) are the most common trisomy disorders.
  • The cause is usually unknown, and prevention is not currently possible.
  • Maternal age is the most important known risk factor; risk increases for pregnancies in women in their late 30s and 40s.
  • Prenatal screening and diagnostic tests are available in Grand Rapids to help identify trisomy conditions during pregnancy.
  • Genetic counseling, local hospital systems, and Michigan-based support networks can provide medical guidance and emotional support for families affected by trisomy disorders.