The first study of successful pregnancies in Chinese patients with Phenylketonuria
Abstract 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)....
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| Format: | Article |
| Language: | English |
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BMC
2020-04-01
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| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12884-020-02941-9 |
| _version_ | 1828553951064096768 |
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| author | Lin Wang Fang Ye Hui Zou Kundi Wang Zhihua Chen Qin Hui Bingjuan Han Chun He Xiaowen Li Ming Shen |
| author_facet | Lin Wang Fang Ye Hui Zou Kundi Wang Zhihua Chen Qin Hui Bingjuan Han Chun He Xiaowen Li Ming Shen |
| author_sort | Lin Wang |
| collection | DOAJ |
| description | Abstract 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 (120–360 μmol/L) ranged from 63.2–83.5%. Low birth weight (< 2500 g) 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. |
| first_indexed | 2024-12-12T05:27:34Z |
| format | Article |
| id | doaj.art-27ae186e9af64dbcabf115d039498845 |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-12-12T05:27:34Z |
| publishDate | 2020-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-27ae186e9af64dbcabf115d0394988452022-12-22T00:36:25ZengBMCBMC Pregnancy and Childbirth1471-23932020-04-012011810.1186/s12884-020-02941-9The first study of successful pregnancies in Chinese patients with PhenylketonuriaLin Wang0Fang Ye1Hui Zou2Kundi Wang3Zhihua Chen4Qin Hui5Bingjuan Han6Chun He7Xiaowen Li8Ming Shen9Department of Preventive Health Care, China-Japan Friendship HospitalDepartment of Pediatrics, China-Japan Friendship HospitalNewborn Screening Center, Jinan Maternity and Child Care HospitalDepartment of Pediatrics, China-Japan Friendship HospitalClinical Research Institute, China-Japan Friendship HospitalDepartment of Pediatrics, China-Japan Friendship HospitalNewborn Screening Center, Jinan Maternity and Child Care HospitalClinical Research Institute, China-Japan Friendship HospitalDepartment of Nutrition, China-Japan Friendship HospitalDepartment of Pediatrics, China-Japan Friendship HospitalAbstract 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 (120–360 μmol/L) ranged from 63.2–83.5%. Low birth weight (< 2500 g) 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.http://link.springer.com/article/10.1186/s12884-020-02941-9Maternal phenylketonuriaDietary treatmentPregnancyOffspring outcomesSapropterin dihydrochlorideBH4 |
| spellingShingle | Lin Wang Fang Ye Hui Zou Kundi Wang Zhihua Chen Qin Hui Bingjuan Han Chun He Xiaowen Li Ming Shen The first study of successful pregnancies in Chinese patients with Phenylketonuria BMC Pregnancy and Childbirth Maternal phenylketonuria Dietary treatment Pregnancy Offspring outcomes Sapropterin dihydrochloride BH4 |
| title | The first study of successful pregnancies in Chinese patients with Phenylketonuria |
| title_full | The first study of successful pregnancies in Chinese patients with Phenylketonuria |
| title_fullStr | The first study of successful pregnancies in Chinese patients with Phenylketonuria |
| title_full_unstemmed | The first study of successful pregnancies in Chinese patients with Phenylketonuria |
| title_short | The first study of successful pregnancies in Chinese patients with Phenylketonuria |
| title_sort | first study of successful pregnancies in chinese patients with phenylketonuria |
| topic | Maternal phenylketonuria Dietary treatment Pregnancy Offspring outcomes Sapropterin dihydrochloride BH4 |
| url | http://link.springer.com/article/10.1186/s12884-020-02941-9 |
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