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 - Personal & Quality Care for Women in All Phases of Life
Personal & Quality
Care for Women in
All Phases of Life
T L Jenkins MD

Optional screenings to consider during your pregnancy

Optional screenings to consider during your pregnancyIn addition to the routine screenings that will be scheduled throughout your pregnancy, additional screenings may be recommended. The purpose of screenings is to determine the level of risk for genetic disorders. Initial screenings only assess risk. If high, further screenings will be conducted.

Carrier testing

Blood testing can determine if a mother is a carrier for potentially serious conditions such as fragile X, spinal muscular atrophy, sickle cell, Tay-Sachs, or cystic fibrosis. If a mother is positive, lab work is also performed on the father. Testing is important because a carrier is one who does not show signs of the disease, but who can pass it to others. If testing is positive, further screening will be performed to assess if the baby is also positive.

Early NT (nuchal translucency) screening

Blood testing is performed initially in this group of screenings. Lab work is performed at 10-14 weeks, and will indicate risk for trisomy 13, trisomy 18, and Down syndrome. The second test, nuchal translucency, involves ultrasound measurements to further assess risk.

Cell-free DNA testing

This fetal DNA screening also assesses for Down syndrome, trisomy 13, and trisomy 18. It involves a blood test after week 10.


The maternal serum alpha-fetoprotein test evaluates a blood sample to assess the risk for spinal cord and skull birth defects. The optional screen can be scheduled between weeks 15 and 20.

Diagnostic testing


Chorionic villus sampling, performed between 10-12 weeks, may be recommended for certain high risk pregnancies to assess for genetic abnormalities such as Down syndrome. A perinatologist performs the procedure, which collects sample tissue from the baby for genetic testing. This sample is obtained through a small catheter which is guided by ultrasound.


Performed after week 16 by a perinatologist, this procedure collects a small fluid sample from the baby's sac in order to identify the presence of abnormal genes, which may indicate Down syndrome. The fluid sample is obtained through a small needle inserted through the abdomen, which is guided by ultrasound.

Each of these procedures can provide valuable diagnostic data. There is a small risk of miscarriage associated with both.

Pregnancy weight gain

When a low-weight mother fails to gain adequate weight during pregnancy, there is a chance that her baby will also be underweight. Preterm birth is also a concern. Obesity, on the other hand, may lead to abnormally high birth weight, as well as a post-term birth and other complications. Studies also indicate that too much weight gain and a high birth weight may increase the risk of childhood obesity.

What's the right amount?

  • Women with Body Mass Index (BMI) less than 20 should gain 30 to 40 pounds.
  • Women with BMI of 20-25 should gain 25 to 35 pounds.
  • Women with BMI of 26 to 29 should gain 15 to 25 pounds.
  • Women with BMI over 20 should gain up to 15 pounds.

Prenatal vitamins

A daily dose of quality prenatal vitamins provides a mother and growing fetus with the nutrients they require. Vitamins may be obtained with or without a prescription. To help you tolerate prenatal vitamins well, take them with a small snack. If nausea continues to be a problem, you may try chewable prenatal vitamins. Constipation resulting from prenatal vitamins may be remedied by drinking plenty of fluids, maintaining an active lifestyle, and eating a fiber-rich diet. If necessary, you may use a stool softener.

We are here to answer your questions. Call 855-346-8610.

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