When I was 20 weeks pregnant, my husband and I went into the doctor’s office filled with joy and excitement as we anticipated finding out whether our child was a boy or girl. While I had experienced some complications early in my pregnancy, everything had calmed down and we were anticipating a relatively uneventful appointment.
However, the look on the ultrasound technician’s face as she pressed the cold, gel-covered ultrasound arm into my stomach let me know the appointment would not be uneventful. She left the room and came back with two other doctors, who reviewed our daughter’s ultrasound and measurements and identified that she did not have a defined nasal bone; one of the defining characteristics of Down Syndrome.
Our Testing Options
As my husband I fearfully waited the news of her diagnosis, the doctors calmly and professional discussed all of the possibilities that could account for her deformed nasal structure. While our previous tests, such as her neck measurement and head size did not indicate Down Syndrome, we were told that this new development put her at risk.
The doctor recommended several rounds of additional testing, including the relatively new MaterniT21™ PLUS chromosomal abnormality test. According to Sequenom, the company that created the test, “the MaterniT21 PLUS test is a noninvasive prenatal test that detects fetal chromosomal abnormalities; from common (trisomies 21, 18 and 13) to rare (sex aneuploidies, trisomies 16 and 22, and select microdeletions).” As it was explained to me by my doctor, the test runs a sample of my blood and pulls out the fetus’s DNA from my blood sample. Therefore, there was no risk of miscarriage, as with previously invasive amniocentesis testing.
My husband and I were shocked by the questions we received after we decided to get the MaterniT21™ PLUS test. While we are pro-life, we felt that it was important to know in advance whether our child would have any chromosomal abnormalities, just so we could be prepared. We never viewed the test as a decision tool on whether we would consider terminating our pregnancy, but instead as a valuable resource to be the best parents we could be. However, the doctors at our Christian hospital, while dedicated enough to provide us the option of testing, began to question our motives. We were asked questions such as, “Will this test determine whether you keep your child?” Of course we are going to keep our child, and we will find a new, non-judgmental doctor while we are at it!
We received the test at the current hospital and switched networks to a new group of doctors at a more advanced hospital. While we didn’t know it at the time, these decisions ended up changing the course of the pregnancy, resulting in some of the best decisions we ever have made.
The test results came back negative for any chromosomal abnormality. Therefore, further testing was done to determine why our daughter didn’t have a defined nasal bone. After nearly ten weeks of testing, it was determined that our daughter had an extremely rare cranial facial cleft called a Tessier 13 Cleft. While she would be born with a slight gap between her eyes, a missing nostril and a deformed nasal bone, her chromosomal make-up and developmental path would be completely normal.
Had we not decided to run the MaterniT21™ PLUS test, we would have never known that our daughter had a nasal cleft. As the doctors didn’t know how her breathing would be affected at birth, (fortunately it wasn’t) extra precaution was taken to ensure a safe delivery. Thanks to the knowledge we received from the test, our beautiful baby girl was born healthy and in an environment equipped to manage her condition.