Maternal phenylketonuria: an update on intervention compliance, challenges to staying compliant, and child outcomes from patient-reported survey data in the Newborn Screening Connect patient registry Público

Borth, Margite Isabella (Spring 2019)

Permanent URL: https://etd.library.emory.edu/concern/etds/7m01bm665?locale=es
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Abstract

BACKGROUND: Maternal phenylketonuria (mPKU) syndrome has been a known complication for pregnant women with PKU for a few decades now. Pregnant women with PKU who do not follow a low phenylalanine (phe) diet can end up having a variety of detrimental child outcomes like cognitive impairments and heart defects. Women with PKU can have successful pregnancies with proper diet interventions; however, despite the known implications and available resources on mPKU syndrome, these cases are still very much prevalent.

METHODS: Newborn Screening Connect is the first web-based, self-reported patient registry for metabolic disorders. The mPKU pregnancy surveys collects data on treatment/diet, medical history, medications, and outcomes from women with PKU who have been pregnant. Descriptive statistics on these data will be reported to provide an update on treatment compliance and child outcomes from those who reported live births. Also, women who reported multiple pregnancies will be further investigated to assess any differences between pregnancies.

RESULTS: We received surveys that described 17 pregnancies from 12 women, resulting in 15 livebirths. In this sample, 43% of livebirths reportedly had symptoms of mPKU syndrome. All women consumed medical food during all pregnancies, but those who reported no symptoms were more likely to report adherence challenges. Use of modified low-protein foods and additional dietary supplements were more commonly reported by those who did who reported no symptoms. Three women reported more than one pregnancy that resulted in a live birth. All three reported mPKU syndrome symptoms in their first pregnancy and no symptoms in their second pregnancy.

CONCLUSION: Phe blood levels seem to have been under control throughout most pregnancies and most followed their prescribed diets; however, mPKU symptoms were still prevalent. Other nutritional inadequacies must be furthered studied on how they can exacerbate mPKU syndrome. Cost was the most common issue reported on being able to adhere to diet. Women who reported more than one pregnancy seem to have improved child health outcomes in subsequent pregnancies. 

Table of Contents

INTRODUCTION..............................................................1

Phenylketonuria and Newborn Screening........................1

Maternal Phenylketonuria Syndrome..............................2

Newborn Screening Connect Patient Registry.................3

Study Rationale...............................................................4

METHODS.......................................................................6

Data Collection and Extraction.......................................6

Data Analysis...................................................................8

RESULTS..........................................................................9

Study Participants...........................................................9

Table 1............................................................................10

Intervention compliance, challenges to staying

compliant and live child outcomes.................................10

Table 2.............................................................................12

Table 3.............................................................................14

Table 4.............................................................................15

Intervention compliance, challenges to staying

compliant and live child outcomes among women

who reported more than one pregnancy with

a live birth outcome........................................................17

Table 5............................................................................18

Table 6............................................................................20

Table 7.............................................................................21

DISCUSSION...................................................................23

Results Summary............................................................23

Diet adherence and phe blood levels..............................24

mPKU symptoms............................................................25

Other medical complications.........................................26

Other adherence challenges...........................................27

Drug treatments.............................................................28

Women who reported more than one pregnancy...........28

Additional support for PKU women...............................29

Strengths and Limitations.............................................30

Conclusion.....................................................................30

REFERENCES.................................................................32

APPENDIX A..................................................................34

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