Genetic Screening: A Case Study Summary

Natalia is a 33yo G4 P1112 who was seen for an ultrasound evaluation and consultation. The patient is interested in genetic screening. She has a history of opiate use disorder and has been using 20 mg of methadone every other day taken from the streets, per her report. She reportedly has anxiety and depression and has been told that she has bipolar disorder in the past. She also does have a history of a previous 32-week preterm delivery with premature rupture of the membranes, though she gave that baby up for adoption. The baby did stay in the NICU for about 2 weeks. She also has a history of having GDM in that pregnancy with HTN in both previous deliveries in 2011 and 2013. In addition, based on her height and weight at the start of the pregnancy, her BMI was 37.

She states that she was using gabapentin, Depakote, hydroxyzine, and Lamictal but stopped all of these in December.

She also used Vyvanse but again, stopped these in mid-December. She also has had MRSA in an infection on her left arm treated in April 2017. Overall on today’s assessment she has no obstetrical complaints today.

She is 10 4/7 weeks by dates and the crown-rump length measurement is concordant. The nuchal translucency measurement is thickened at 3.1 mm and the fetal heart rate is unusual, in that it runs at about 70 bpm but there are episodes of bigeminy with it. It is too early to do any type of cardiac evaluation, but this heart rate is unusual, especially with good fetal movement seen at the fetal pole. The ductal flow was normal but due to position the nasal bone could not be adequately

assessed.

The patient is actually interested in getting off of the methadone and we discussed the options for pursuing this. However, with the thickened nuchal translucency measurement and the unusual cardia anomaly we recommended that she undergo noninvasive prenatal testing (NIPT) rather than the FTS since there is an increased risk for aneuploidy. We will await these results which should return in about 7-10 days before proceeding with getting her completely off of opiates. In addition, we did check a urine evaluation because of the numerous medications that she was on in December 2017. With the pregnancy if she progresses we would recommend low-dose aspirin because of her history of the gestational HTN and she is also a candidate for 17-alpha hydroxyprogesterone since she delivered prematurely at 32 weeks gestation. Again, at this time the plan is for her to follow-up in our office in about 10 days to proceed further once we have her NIPT results back.

Thank you for referring this patient to our office. Please do not hesitate to call us if you have any questions.

THIS REPORT HAS BEEN DICTATED BUT NOT EDITED
Craig V. Towers, M.D.
Maternal-Fetal Medicine