The first study of successful pregnancies in Chinese patients with Phenylketonuria

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). Married patients wit...

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Bibliographic Details
Published in:BMC pregnancy and childbirth 2020-04, Vol.20 (1), p.253-253, Article 253
Main Authors: Wang, Lin, Ye, Fang, Zou, Hui, Wang, Kundi, Chen, Zhihua, Hui, Qin, Han, Bingjuan, He, Chun, Li, Xiaowen, Shen, Ming
Format: Article
Language:English
Subjects:
Adult
Age groups
BH4
Biopterins - analogs & derivatives
Biopterins - therapeutic use
Birth weight
China - epidemiology
Demographics
Diet
Dietary treatment
Disease Management
Fasting
Female
Fetuses
Genetic counseling
Hemoglobin
Humans
Infant, Newborn
Maternal Nutritional Physiological Phenomena
Maternal phenylketonuria
Medical screening
Metabolism
Neonatal Screening
Nutrition research
Nutritionists
Offspring outcomes
Patients
Phenylalanine - blood
Phenylketonuria, Maternal - blood
Phenylketonuria, Maternal - therapy
Pregnancy
Pregnancy Complications - blood
Pregnancy Complications - therapy
Pregnancy Outcome
Sapropterin dihydrochloride
Statistical analysis
Womens health
Young Adult
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Summary: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). 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]). 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 (120-360 μmol/L) ranged from 63.2-83.5%. Low birth weight (
ISSN:1471-2393
1471-2393
DOI:10.1186/s12884-020-02941-9