The Mrs. The Mommy. The M.D.: From Tiny Chromosomes to Tiny Patients...
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Saturday, September 8, 2018

From Tiny Chromosomes to Tiny Patients...

As mentioned in my last post, I spent my August  in the world of genetics. Genetic counselors work very closely with Maternal-Fetal Medicine specialist. For example, after a baby is diagnosed with anomalies on ultrasound or a mom with a high risk genetic condition is receiving care, we typically refer them to genetic counselors.

Genetic counseling can look different depending on the institution, but the common thread is that they are a wealth of knowledge on both screening and diagnostic test for birth defects and diagnosis of conditions prenatally. Patients who elect for screening can be low risk patients, but also those who may have a history themselves, or child that was previously diagnosed with a genetic condition. Genetic counselors also help families who have a baby diagnosed with a genetic condition navigate next steps for the pregnancy.

It was so interesting to see families affected by conditions that I hadn't heard about since medical school - such as Phenylketonuria, Galactosemia, and Ehlers-Danlos

On the Maternal-Fetal Medicine side of things, the docs are responsible for performing the procedures that ultimately make a diagnosis for families. Depending on how far along a mom is, this can be something called chorionic villous sampling (CVS) that uses a needle to sample placental tissue between 10-14 weeks of pregnancy, or an amniocentesis that uses a needle to sample amniotic fluid any time after 15 weeks of pregnancy.

Chorionic Villous Sampling
Illustration of chorionic villus sampling
Mayo Clinic

I got to do my first amniocentesis as a fellow last month and it was awesome.


Unlike residency, the first day the month means a new rotation for me in fellowship. To start this month, I am in the neonatal intensive care unit (NICU). I get to work with the pediatrician intensive care teams taking care of the babies the maternal fetal medicine teams often have to deliver.

I love that my fellowship program gives us this unique perspective to experience things on the other side of what we do. Many times, we deliver a mom who has been with us for weeks on the Antepartum service, or days with us on labor and delivery, but her journey doesn't end there because she may spend months with her baby in the NICU.

I have gotten a crash course on management of the extremely low birth weight infant (<1000gm) and what long-term care can look like after a baby is born significantly premature. It is so amazing to me how tiny a premie baby can be - too small to do things like keep their bodies warm, keep their blood sugars up, and sometimes keep their tiny lungs open. Modern medicine is amazing. 

Stay tuned for my second half of the month when I get to hang out with OB Anesthesia (!!!)...

Headband Gang in the NICU!

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