New Blood Test for Down’s Syndrome – Attain Fertility Blog

New Blood Test for Down’s Syndrome

By: admin Wednesday Oct. 12th
Filed in: Medical Conditions

by Dr. Mary Hinckley

My patient sat on the table with her paper gown in shreds. She had just had her 9-week ultrasound and the baby was growing well with a strong heartbeat. I love this day, as it is the day my patients graduate and begin to see their OB for the remainder of their pregnancy. Most miscarriages will have happened by now, so when I see the blinking dot on the sonogram screen, which represents the heartbeat, I know that the chances of miscarriage are now low. We all breathe a sigh of relief.

On this day, I also have the conversation about what type of testing they will choose when they get to their OB’s office. They will be offered one of the following:

  • A triple screen
  • A first trimester screen
  • An integrated screen

Sometimes these choices seem overwhelming and there is never enough time at the first OB visit to truly address the issues involved in antenatal screening.

I like to start the conversation at my last visit so my patients have time to weigh the options carefully before making a choice. My patient surprised me by saying she wasn’t sure if she wanted to do antenatal screening. If she had a baby with Down’s syndrome (the most common problem discovered through antenatal testing), she would keep the baby. In the Bay Area, this is not a common sentiment. Most individuals want a “perfect baby” and the extra work and possible suffering that awaits families with a Down’s syndrome child can seem overwhelming. This patient responded “we are never guaranteed a perfect child—even my other son who seemed perfect at birth developed problems later. So I will just love this child… no matter what.”

My heart warmed even more to this patient as she truly “got it.” At RSC Bay, we strive to make people families. But this does not always mean a straight-A child with no physical defects. Families are units that nurture each other and share in the trials and triumphs of life. And this patient will have a full and rewarding life, no matter what, given her attitude.

On 9/11/11, an article in the Valley Times referred to an upcoming blood test that will tell patients whether their pregnancies might be affected by genetic abnormalities. This test promises to help moms avoid invasive tests like CVS and amniocentesis. It also makes it easier to unknowingly consent to testing, only to be confronted with the need to make a decision about having a baby with a genetic abnormality.

One day, the test may also be able to tell you if your child will develop cancer, diabetes, depression, and more. Do we really want to know all of these things? How will patients make informed decisions about whether to carry the pregnancy to term? Women and couples who have chosen to “keep” babies with Down’s syndrome often tell me it created the hardest of times, but also the most rewarding. They could not imagine a life without the joy their child with Down’s syndrome provided. Siblings of these children tell of how their lives were forever changed for the better by developing compassion and the ability to see someone for who they are on the inside, not the outside.

The decision to have prenatal screening test or Amnio, or soon the genetic blood test, will be a personal decision. Each pregnant patient that leaves our office will have to make this choice. It will not be an easy decision, and those dealing with an abnormal result will find it even more challenging. Our hope is that we can provide our patients with the information and support to make the best decision for creating their family.

Dr. Mary Hinckley is a leading Reproductive Endocrinology and Infertility specialist at the Reproductive Science Center of the San Francisco Bay Area. She has extensively published articles in peer-reviewed journals on blastocyst transfer, avoiding triplet pregnancies, monozygotic twinning, operative hysteroscopy, correction of uterine anomalies, and biochemical pathways involved in ovulation and fertilization. She serves as a member of the Society for Reproductive Endocrinologists, the Christian Medical and Dental Society and the American Society for Reproductive Medicine. Her areas of interest include laparoscopic surgery, premature ovarian failure, oocyte freezing, and recurrent pregnancy loss.

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