Common Genetic Abnormalities We Can Screen For

Common Genetic Abnormalities We Can Screen For

It wouldn’t be accurate to say that amidst the deep joy that accompanies expecting a baby, there isn’t also a considerable amount of worry. It’s only natural to wonder about how you can give your baby the best start — even before they’re born — by eating well, exercising safely, and avoiding things we know to pose dangers for a developing fetus, like smoking and alcohol consumption.

Fortunately, Dr. Peter Khamvongsa and the team at The Miami Institute for Women’s Health are dedicated to providing the very best prenatal care, and part of this is offering screenings for common genetic abnormalities, or conditions linked to genetic or chromosomal changes. We are here to care for and help you have the healthiest pregnancy possible, as well as a smooth birth.

What is unique to conditions that are related to genetic abnormalities in pregnancy?

Unlike non-genetic abnormalities — examples of which include cleft lip and palate conditions linked to smoking, cognitive problems caused by maternal alcohol consumption, or microcephaly (underdevelopment of the brain in utero and a small head size after birth) when a mother has contracted the Zika virus — genetic abnormalities stem from genetic or chromosomal mutations. 

Genes are what each of us has in our cells that actually hold information on how our bodies will develop and function, while chromosomes hold our genes. Errors can happen during cell division while a baby develops, and parents can pass on genetic abnormalities as well.

Rest assured, we can screen for common genetic abnormalities

Thanks to sophisticated testing capabilities, Dr. Khamvongsa can screen for some of the most frequently diagnosed genetic abnormalities while you’re pregnant. 

1. Down syndrome

This disorder happens when a fetus develops an extra chromosome 21 (everyone has 23 pairs of chromosomes) and those born with it have cognitive delays, low muscle tone, more frequently diagnosed heart conditions, and other issues. 

Testing for Down Syndrome can be done in the first trimester — as early as 11-14 weeks — through an ultrasound and a blood test. Mothers can also be screened late, at 15-20 weeks, along with a blood test known as the multiple marker screening serum test. 

2. Cystic fibrosis

Babies diagnosed with this chronic, life-shortening condition produce excess amounts of very thick mucus. The condition is due to a problematic protein in the body and leads to breathing, digestive, and reproductive problems.

Parents can be carriers of the cystic fibrosis gene, and if both are, a child has a 25% chance of being born with it. Cystic fibrosis can be tested for using chorionic villus sampling and amniocentesis. Chorionic villus sampling is done between 10-13 weeks and involves taking and testing a minute bit of the placenta, while amniocentesis, which samples the amniotic fluid, is typically done between 15-20 weeks, though it can be done until birth.

3. Thalassemia

Thalassemia is actually multiple hereditary conditions that limit how much hemoglobin a person can produce. This problem hampers how oxygen flows through the body. Children who inherit the thalassemia gene from both parents have a 25% chance of being born with thalassemia, and parents are more likely to be carriers if their roots are Mediterranean, Southeast Asian, Indian, Chinese, Middle Eastern, or Northern African.

You can get tested to find out if you’re a carrier or not. Dr. Khamvongsa can test your developing baby by performing chorionic villus sampling or amniocentesis as well. 

4. Tay-Sachs disease

Tay-Sachs disease emerges in only one of every 250 members of the overall population, but jumps to one in 27 if you’re Jewish. It affects chromosome 15 and slowly destroys the nervous system of children diagnosed with it, who sadly often pass away from the condition by age five. 

This disorder is also screened for using amniocentesis or chorionic villus sampling. 

5. Sickle cell anemia

This disorder, which is detected prenatally — also through chorionic villus sampling and amniocentesis — disproportionately affects African Americans and is passed down if both parents are carriers of the gene. It causes blood cells to change shape from donut-like to sickle-shaped. This shift leads to the blood cells clumping up in the blood vessels and causing problems, including debilitating pain, infections, organ damage, and more. 

We are happy that we can offer this testing and confirm whether or not your baby has a genetic abnormality. If they do, we proceed with treating both of you with sensitivity throughout and after your pregnancy. 

Call our office at 786-220-2184 to set up a consultation with Dr. Khamvongsa or use our convenient online booking tool. We are open later on Mondays and Thursdays, for your convenience.

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