Page 8 - Guide to Pregnancy

What are Down Syndrome, Trisomy 18 and Trisomy 13?
Down syndrome occurs when the baby has an extra copy of chromosome 21. Babies with Down syndrome have mental retardation and usually have physical anomalies, like heart defects.
Trisomy 18 is caused by an extra chromosome 18 and trisomy 13 by an extra chromosome 13. Both these disorders cause profound mental retardation and multiple birth defects. While trisomy 18 and trisomy 13 are more severe than Down syndrome, they are less common.
What is Cystic Fibrosis?
Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.
What is Fragile X?
Fragile X syndrome is a disorder that causes mental retardation, autism, and hyperactivity. It affects both boys and girls, although boys are usually more severely affected than girls. Women who are carriers are at risk to have a child with mental retardation. If a mother is a carrier, there is up to a 50% chance to have a child affected with Fragile X syndrome.
What is Spinal Muscular Atrophy (SMA)?
SMA is a disease that destroys nerve cells that affect voluntary movement. Infants with SMA have problems breathing, swallowing, controlling their head or neck, and crawling or walking. The most common form
of SMA affects infants in the first months of life and can cause death between 2-4 years of age. Less commonly the disease starts later and people can survive into adulthood. SMA does not affect intelligence. There is no cure or treatment.
What is Cell-free fetal DNA (cffDNA) testing?
There is fetal DNA circulating freely in the maternal blood stream. It can be sampled by drawing blood on the mother. Analysis of cffDNA provides a method of non-invasive prenatal diagnosis that is very accurate. This is recommended for patients over 35 or for younger patients with a family history.
How is the Nuchal Fold Down Syndrome test or the Cell-free DNA test done?
Blood is taken from your arm or through a finger stick to measure the levels of protein/DNA in your blood. Your ultrasound exam will measure your baby’s nuchal translucency (NT), a fluid filled space at the back of the baby’s neck.
What if my screening test is abnormal?
It does not mean a chromosomal abnormality has been diagnosed. It means your chance of having a baby with a chromosome abnormality is high enough to offer further testing. You will be offered genetic counseling, and a safe diagnostic amniocentesis or CVS test. CVS is a test in which a small amount of placental tissue is collected. Amniocentesis is a test in which a small amount of fluid from around the baby is collected for chromosome analysis.
Vaccinations
The Centers for Disease Control (CDC) recommends that women pregnant during the flu season receive a flu shot. They also recommend the vaccine to protect mom and baby against tetanus, diphtheria, and pertussis (called Tdap). It is recommended between 28-36 weeks or postpartum. Receiving the vaccine in pregnancy gives your baby extra protection against whooping cough which can be very dangerous for newborns.
Prenatal vitamins
We recommend a prenatal vitamin that contains folic acid prior to conception, throughout pregnancy and postpartum while breastfeeding. Please check with your provider before taking any vitamins, herbs or other supplements as some may be unsafe during pregnancy.
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