Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria

Waisbren, Susan E.; Hanley, William; Levy, Harvey L.; Shifrin, H; Allred, Elizabeth N.; Azen, Colleen; Chang, Pi-Nian; Cipcic-Schmidt, S.; Cruz, Felix de la; Hall, R T; Matalon, Reuben; Nanson, Jo; Rouse, Bobbye; Trefz, F. K.; Koch, Richard

doi:10.1001/jama.283.6.756

Cited by 57 publications

(10 citation statements)

References 28 publications

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“…A successful pilot project involving mothers serving as resources for their daughters with PKU when they reached childbearing age resulted in better dietary control during pregnancy and better outcome for the children. 135 Too little published data exist on children born to mothers with PKU. One interesting observation of this cohort of children is a decline in the scores achieved on developmental tests at age 4 years from those achieved on similar tests taken at age 2 years.…”

Section: Pregnant Women With Pah Deficiencymentioning

confidence: 99%

Phenylalanine hydroxylase deficiency

Mitchell

Trakadis

Scriver

2011

Genetics in Medicine

252

172

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Section: Pregnant Women With Pah Deficiencymentioning

confidence: 99%

Phenylalanine hydroxylase deficiency

Mitchell

Trakadis

Scriver

2011

Genetics in Medicine

252

172

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“…We can learn from the past here. Without attention to long-term outcomes, we would not have discovered that without continued treatment during adulthood, children born to women with PKU are at risk of suffering significant neurological damage (40, 69). …”

Section: Treatment and Long-term Follow-upmentioning

confidence: 99%

Ethical Issues with Newborn Screening in the Genomics Era

Tarini

Goldenberg

2012

Annu. Rev. Genom. Hum. Genet.

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Continued technological advances have made the prospect of routine whole-genome sequencing (WGS) imminent. To date, much of the discussion about WGS has focused on its application and use in clinical medicine. Relatively little attention has been paid to the potential integration of WGS into newborn screening programs. Given the structure and scope of these programs, it is possible that the early applications of WGS will occur in state-run newborn screening programs. Assessment of the pressing ethical issues currently facing the newborn screening community will provide insight into the challenges that lie ahead in the genomics era.

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“…In maternal phenylketonuria (PKU), high blood phenylalanine (Phe) levels during pregnancy have a teratogenic effect on the developing foetus which can result in intrauterine growth retardation, facial dysmorphism, developmental delay, intellectual disabilities, microcephaly and congenital heart disease (CHD) [ [1] , [2] , [3] , [4] , [5] , [6] , [7] ]. Strict metabolic control before and throughout pregnancy reduces foetal risk if dietary control is achieved before conception and maintained throughout pregnancy [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Reproductive experience of women living with phenylketonuria

Ford¹,

O’Driscoll

MacDonald

2018

Molecular Genetics and Metabolism Reports

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IntroductionMany women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy. Many studies have documented the outcome of maternal PKU infants, but very little has been reported about the experiences of women of reproductive age with PKU, particularly about their psychosexual development, pre-conception, pregnancy and postnatal experience.MethodsIn the UK, in a subsection of an online questionnaire conducted by the National Society for PKU (NSPKU) about living with PKU, women aged 18 years and over completed 9 closed questions about their pre-conception, pregnancy and post-natal experiences and an open-ended question on their reproductive health.Results300 women aged 18 years and over with PKU completed this questionnaire with 37% (n = 111/300) of women already having children. 56% (n = 71/128) of pregnancies were planned and a further 18% (n = 23/128) of women had both planned and unplanned pregnancies. Most women (73%, n = 200/273) expressed concerns, fears and distress about pregnancy and two thirds of women who had at least one pregnancy stated that having PKU made pregnancy more stressful and difficult. 60% (n = 164/273) were concerned that they may cause harm to a baby, 58% (n = 159/273) worried about their ability to manage a strict diet during pregnancy, 54% (n = 147/273) had anxiety about their ability to maintain blood Phe within target range, and 48% (n = 132/273) feared having an unplanned pregnancy.Postnatally, 48% (n = 45/93) had low mood or sadness, 41% (n = 38/93) were depressed, 34% (n = 32/93) felt unable to cope, 33% (n = 31/93) said they could not manage their PKU and care for their baby, 14% (n = 13/93) struggled with child care needs and 4% (n = 4/94) worried they might hurt themselves or their baby through being unable to manage their diet.ConclusionsMany women with PKU have unmet sexual and reproductive health needs. Pregnancy fears are prominent from adolescence onwards and for some women overarching concerns about their ability to cope with pregnancy led to a decision not to have children. Interventions are needed to reduce the psychological impact of the risk of maternal PKU syndrome and assist with safe pregnancies. Post-natal experiences of women with PKU give rise to concern.

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Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria

Abstract: Our data suggest that delayed development in offspring of women with PKU is associated with lack of maternal metabolic control prior to or early in pregnancy. Treatment at any time during pregnancy may reduce the severity of delay.

Cited by 57 publications

References 28 publications

Phenylalanine hydroxylase deficiency

Phenylalanine hydroxylase deficiency

Ethical Issues with Newborn Screening in the Genomics Era

Reproductive experience of women living with phenylketonuria

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