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Research article
The First Study of Successful Pregnancies in Chinese patients with Phenylketonuria
Ming Shen
Corresponding Author
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Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU).
Method Married patients with PKU from 2012 to 2017 were enrolled to receive prenatal counseling and regular health assessments. Study-related assessments included the timing of Phe-restricted diets, maternal weight gain, gestational age, pregnancy complications, and blood Phe concentrations (both pre-conception and during pregnancy), obstetrical data, and offspring outcomes(e.g. anthropomorphic measurements and developmental quotients [DQs]).
Results A total of six offspring were successfully delivered. The mean±SD (range) age of the mother at delivery was 26.3±4.7 (range: 21.1-32.5) years. The mean duration of Phe control before pregnancy was 5.5±1.3(range: 3.1-6.5) months. During pregnancy, the proportion of blood Phe concentrations within the clinically-recommended target range (120–360μmol/L) ranged from 63.2-83.5%. Low birth weight (<2500g) offspring occurred in two women who experienced suboptimal metabolic control. In addition, offspring DQ was related to the proportion of blood Phe levels per trimester that were within the recommended range (r=0.886, p=0.016).
Conclusion This is the first report of women in China with PKU who successfully gave birth to clinically healthy babies. Infant outcomes were related to maternal blood Phe management prior to and during pregnancy. In maternal PKU patients with poor compliance to dietary treatment, sapropterin dihydrochloride（6R-BH4）may be an option to improve the management of blood Phe levels.
Keywords
Maternal phenylketonuria, Dietary treatment, Pregnancy, Offspring outcomes, sapropterin dihydrochloride, BH4
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Editorial decision: Major revision
On 13 Dec, 2019
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On 11 Dec, 2019
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Received 22 Nov, 2019
Reviewer #1 agreed
On 21 Nov, 2019
Reviewers invited
Invitations sent on 15 Oct, 2019
Editor assigned
On 05 Sep, 2019
Submission checks complete
On 04 Sep, 2019
Editor invited
On 04 Sep, 2019
No comments provided
Editorial decision: Major revision
On 06 Aug, 2019
Reviewer #3 agreed
On 03 Aug, 2019
Reviewers invited
Invitations sent on 02 Aug, 2019
Reviewer #1 agreed
On 02 Aug, 2019
Reviewer #2 agreed
On 02 Aug, 2019
Review #2 received
Received 02 Aug, 2019
Review #1 received
Received 02 Aug, 2019
Submission checks complete
On 30 Jul, 2019
Editor assigned
On 08 Jul, 2019
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On 07 Jul, 2019
Editor invited
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Subject Areas
Maternal & Fetal Medicine
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This preprint is under consideration at BMC Pregnancy and Childbirth. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
The First Study of Successful Pregnancies in Chinese patients with Phenylketonuria
Ming Shen
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 4
Posted 16 Apr, 2020
No community comments so far
Submission checks complete
On 14 Apr, 2020
No comments provided
Editorial decision: Minor revision
On 02 Apr, 2020
Reviewers invited
Invitations sent on 11 Jan, 2020
Reviewer #1 agreed
On 11 Jan, 2020
Review #1 received
Received 11 Jan, 2020
Editor assigned
On 08 Jan, 2020
Submission checks complete
On 07 Jan, 2020
Editor invited
On 07 Jan, 2020
No comments provided
Editorial decision: Major revision
On 13 Dec, 2019
Reviewer #2 agreed
On 11 Dec, 2019
Review #1 received
Received 22 Nov, 2019
Reviewer #1 agreed
On 21 Nov, 2019
Reviewers invited
Invitations sent on 15 Oct, 2019
Editor assigned
On 05 Sep, 2019
Submission checks complete
On 04 Sep, 2019
Editor invited
On 04 Sep, 2019
No comments provided
Editorial decision: Major revision
On 06 Aug, 2019
Reviewer #3 agreed
On 03 Aug, 2019
Reviewers invited
Invitations sent on 02 Aug, 2019
Reviewer #1 agreed
On 02 Aug, 2019
Reviewer #2 agreed
On 02 Aug, 2019
Review #2 received
Received 02 Aug, 2019
Review #1 received
Received 02 Aug, 2019
Submission checks complete
On 30 Jul, 2019
Editor assigned
On 08 Jul, 2019
First submitted
On 07 Jul, 2019
Editor invited
On 07 Jul, 2019
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Maternal & Fetal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU).
Method Married patients with PKU from 2012 to 2017 were enrolled to receive prenatal counseling and regular health assessments. Study-related assessments included the timing of Phe-restricted diets, maternal weight gain, gestational age, pregnancy complications, and blood Phe concentrations (both pre-conception and during pregnancy), obstetrical data, and offspring outcomes(e.g. anthropomorphic measurements and developmental quotients [DQs]).
Results A total of six offspring were successfully delivered. The mean±SD (range) age of the mother at delivery was 26.3±4.7 (range: 21.1-32.5) years. The mean duration of Phe control before pregnancy was 5.5±1.3(range: 3.1-6.5) months. During pregnancy, the proportion of blood Phe concentrations within the clinically-recommended target range (120–360μmol/L) ranged from 63.2-83.5%. Low birth weight (<2500g) offspring occurred in two women who experienced suboptimal metabolic control. In addition, offspring DQ was related to the proportion of blood Phe levels per trimester that were within the recommended range (r=0.886, p=0.016).
Conclusion This is the first report of women in China with PKU who successfully gave birth to clinically healthy babies. Infant outcomes were related to maternal blood Phe management prior to and during pregnancy. In maternal PKU patients with poor compliance to dietary treatment, sapropterin dihydrochloride（6R-BH4）may be an option to improve the management of blood Phe levels.
Figure 1