Pregnancy is full of dreams, questions, and anticipation. Sometimes, it also brings unexpected information—like a possibility or confirmation that your baby may have Down syndrome.

If you’re here because you’re wondering about signs of Down syndrome during pregnancy, you’re not alone. Whether you're seeking information, preparing for next steps, or offering support to someone you love, this guide is here to help—with clarity, compassion, and hope.

During pregnancy, Down syndrome (trisomy 21) can sometimes be detected through a combination of screening tests, diagnostic tests, and ultrasound findings—though not all signs are visible or conclusive.

While these tools can help prepare families, they also bring emotional weight. Many parents, especially after a positive screening or diagnosis, experience stress, fear, or even grief for the expectations they had.

That’s where your “Don’t Fear Me” mission comes in—to remind families that knowledge is power, but love is everything. A Down syndrome diagnosis is not the end of joy—it’s often the beginning of a very beautiful kind of love story.

Introduction to Down Syndrome

Down syndrome, also known as Down’s syndrome, is a genetic condition caused by an extra chromosome 21. Down syndrome is a genetic abnormality characterized by an extra chromosome 21.
According to the National Down Syndrome Society, Down syndrome is a common chromosomal abnormality that affects approximately 1 in 700 births worldwide.
Down syndrome occurs due to an extra chromosome 21, which results from changes in the way cells in chromosome 21 divide, specifically a cell division error called nondisjunction.
Mosaic Down syndrome is a type of Down syndrome where some cells have three copies of chromosome 21, but other cells have the typical two copies.
But it’s also important to know that children with Down syndrome are as unique and full of potential as any other child.

Recognizing the Signs of Down Syndrome During Pregnancy what to know:

umbilical cord, physical examination,developmental disability, physical exam, abnormal opening, fetal chromosome — Make it stand out

**Sign #1:** That Perfect Little Button Nose
**Sign #2**: Almond Eyes That Could Melt a Glacier
**Sign #3:** Extra Love on Chromosome 21
**So What Does It All Mean?**
It means you might be expecting a baby with a few extra quirks—like:
**Stealing your heart before they’re even born**
**Having their own timeline** (they’ll hit milestones when they’re good and ready)
**Teaching you patience, empathy, and unconditional love in a way you never saw coming**
And yes, sometimes it means extra doctor visits, extra questions, and extra emotions. But it also **means extra hugs, extra smiles, and extra magic.**

🩺 Screening Tests (Noninvasive)

Prenatal screening tests are used to assess the risk of Down syndrome during pregnancy. These are risk assessments, not diagnoses, but they give early clues.

1. First Trimester Screening (10–13 weeks)

Blood test (measures PAPP-A and hCG)
Nuchal translucency ultrasound: Measures fluid at the back of the baby’s neck. Increased thickness can be a sign of Down syndrome.
Combined, these can estimate your baby’s risk of chromosomal abnormalities.

2. Cell-Free DNA Test (cfDNA/NIPT)

Done as early as 10 weeks
A simple blood draw from the mother that analyzes fetal DNA in the mother's blood
Very accurate (over 99% sensitivity for Down syndrome), but still considered a screening

🔬 Diagnostic Tests (InvasivE)

These tests analyze actual chromosomes and give a definitive answer but have a few risks.

Chorionic Villus Sampling (CVS) – 10 to 13 weeks (Tests a small piece of the placenta).

Amniocentesis – 15 to 20 weeks (Tests a sample of amniotic fluid). More Info HERE.

🔍 Ultrasound Signs (Soft Markers)

blood sample, syndrome screening test, integrated screening test, first trimester combined test, ultrasound scan, prenatal care

Certain physical signs on ultrasounds, such as distinctive physical features, may suggest Down syndrome, especially during the second trimester (18–22 weeks). Alone, they are not a diagnosis—just indicators.

Additionally, structural abnormalities can also be indicators of Down syndrome, highlighting the importance of thorough prenatal assessments.

Common Soft Markers:

Increased nuchal fold (thicker skin at the back of the neck)
Absent or small nasal bone
Echogenic intracardiac focus (bright spot in the heart)
Echogenic bowel (bowel appears unusually bright)
Shortened femur or humerus (arms and legs shorter than average)
Mild kidney dilation
Heart defects (especially atrioventricular septal defect)
Distinctive facial features (observable in ultrasounds as a marker for Down syndrome)

It’s important to remember:
➡️ Many babies without Down syndrome show one or more of these signs.
➡️ And many babies with Down syndrome show none at all.

💛 If You’ve Received a Positive Result…

Take a deep breath. You’re not alone.
A prenatal diagnosis of Down syndrome may feel overwhelming at first. You might be feeling fear, grief, confusion—or all three. That’s okay.

But what comes next can be something deeply beautiful. So many families say they never could have imagined the joy, growth, and love their child would bring.

With time, support, and connection, that initial fear often gives way to something much more powerful: peace and purpose.

family history, prenatal care, pregnant woman, healthy lives, risk factors, in vitro fertilization

Navigating Pregnancy and Parenthood

Through the Don’t Fear Me project, I’ve photographed and interviewed hundreds of families with children who have Down syndrome. Each story is different—but they all echo the same truth:

💬 “I wish I had known sooner how beautiful this life would be.”

If you're navigating a diagnosis or supporting someone who is, please reach out. You deserve answers, encouragement, and community.

Because fear doesn't get the final word. Love does.

Life Expectancy and Quality of Life

The life expectancy and quality of life for individuals with Down syndrome have improved significantly in recent years, thanks to advances in medical care and early intervention. Historically, individuals with Down syndrome were at high risk of shorter life expectancy due to complications like heart disease and low resistance, which contributed to a variety of health challenges. However, advancements in treatment have since improved outcomes, leading to increased life expectancy.

With proper care and support, individuals with Down syndrome can lead fulfilling lives and participate in their communities.

medical professionals, giving birth, poor vision, heart disease, low risk

Over the past year, we have photographed and interviewed hundreds of families for the Don’t Fear Me campaign—families who once sat in the same doctor’s office you may have just left, hearing the same words you did. Here are just a few of their stories. I share them with their permission, in the hope that they will bring you peace, strength, and the reminder that life after the diagnosis is still beautiful—sometimes even more so.

weeks of pregnancy, trisomy 21, most common type, first trimester of pregnancy, screening for down syndrome, full potential

💛 Nikki & Josh – “We Thought Our Life Was Over. It Was Just Beginning.”

Nikki was 16 weeks pregnant when a routine screening showed a high risk for Down syndrome. "We were devastated," she remembers. "We cried. We grieved the child we thought we were having." But they went ahead with further testing, and the diagnosis was confirmed.

What they didn’t expect was how fast their fear would fade. “We started learning. We joined a local support group. We met other kids with Down syndrome—and we saw joy. So much joy.”

Today, their daughter, Elsie, is five years old and lights up every room she enters. “She’s the best thing that ever happened to us,” says Josh. “We never saw her as different, just saw her as ours.”

💙 Mark– “He Taught Me How to Slow Down and Really See the World.”

Mark was a single dad when he found out his son had Down syndrome. “I was terrified,” he admits. “I didn’t know anything about it. I thought I had to be this perfect dad. I thought I had to fix things.”

But his son, Leo, didn’t need fixing. He just needed love.

“Leo taught me to live in the moment. He’s funny, curious, and stubborn in the best way. He’s taught me more about patience and presence than I ever thought possible. Best thing that ever happened to me". The Down Syndrome community is awesome, I met so many friends there. Always some fun events to go to.”

💗 Amanda & Jacub – “She Redefined What Strength Looks Like.”

When Amanda and Jacub adopted their daughter, Zola from overseas, they knew she had Down syndrome—and a long list of medical needs. “Everyone told us to reconsider,” Amanda says. “But we knew she was meant for us. ”The first year was hard. Surgeries. Therapies. Sleepless nights. But through it all, they saw who their daughter really was: a fighter, a joy-bringer, a miracle in motion. I wouldn’t change a thing!”

Their story reminds us that love doesn’t fear a diagnosis—it rises to meet it.

If you’ve received a diagnosis of Down syndrome, know this:

Your baby is still your baby. Full of wonder. Full of potential. Full of light.

This journey may look different than you imagined—but different doesn’t mean less. Often, it means more—more laughter, more growth, and more unconditional love than you ever expected.

You’re doing better than you know—and you are never alone. Chances are, there’s a group of incredible parents in your own community who have walked this road too. They’ll welcome you with open arms into the beautiful world of the Down syndrome community.