What is Mild Hyperphe?

Mild Hyperphe is an inherited condition in which a person's body is unable to properly utilize one part of protein found in food. This condition causes mildly increased levels of phenylalanine in the blood. There are no known problems associated with having Mild Hyperphe as a child so dietary treatment is usually not required then. However, research suggests special attention might be needed for the woman with Mild Hyperphe during pregnancy to protect her babies from birth defects.
Hyperphe is an abbreviation of the medical term Hyperphenylalaninemia (pronounced hyper-fenel-al-ah-ninemia). This long medical term can be divided into three parts and defined as follows:

Hyper: means high
Phenylalnine: is an amino acid (a part of protein) found in food
Emia: refers to the blood

How Did I Get Mild Hyperphe?

Genes are responsible for your characteristics, such as eye color and height. Genes are also responsible for instructing the cells in the liver to make the enzyme that changes PHE to tyrosine. When the gene responsible for making this enzyme is altered, Mild Hyperphe occurs. Below is a simple illustration of how the altered gene was passed from your grandparents to your parents and to you.

Genes are units of inheritance found in body cells. Genes come in pairs in your cells with each parent contributing one gene to the pair in each cell. A person who has one "normal" gene and one altered Mild Hyperphe gene is called a carrier.

Generation I represents the possible genetic makeup of your grandparents. One of your maternal grandparents and one of your paternal grandparents are carriers of the Mild Hyperphe gene. One in 70 persons are carriers of the Mild Hyperphe gene.

What Are the Effects of Mild Hyperphe on an Unborn Child During Pregnancy?

There are no known problems associated with having Mild Hyperphe as a child so treatment is not needed then. However, research suggests special attention may be needed for the woman with Mild Hyperphe during pregnancy to prevent birth defects.

In 1984, the Maternal PKU Collaborative Study began collecting information on Hyperphe during pregnancy. Women with various types of Hyperphe, including Mild Hyperphe, were enrolled and followed during pregnancy by the Study. The results show that women with Mild Hyperphe should be followed by a PKU center before and during pregnancy. The center monitors the woman's diet and blood PHE levels and, if necessary, puts her on a diet to avoid possible damage to the baby.
The potential damage for the unborn baby during pregnancy works this way. As blood flows from the mother through the placenta during pregnancy, nutrients, including PHE, are transferred to the baby. The placenta concentrates some nutrients, like PHE, to help the baby grow. The blood PHE level may increase 1½ times in the baby. For example, a mother's blood level of 7 mg/dL (420 mmol/L) may be concentrated by the placenta to 11 mg/dL (660 mmol/L) before passing on to the baby as illustrated in Figure 4. Blood PHE levels that are too high place the baby at risk for birth defects.

Fetus Support Manipulator with Flexible Balloon-based Stabilizer for Endoscopic Intrauterine Surgery

A novel manipulator is described for stabilizing fetus and preventing it from free-floating during the endoscopic intrauterine surgery. Minimally invasive endoscopic fetal surgery enables intrauterine intervention with reduced risk to the mother and fetus. We designed and fabricated a prototype of a fetus supporting manipulator equipped with a flexible bending/curving mechanisms and a soft balloon-based stabilizer. The flexible bending and curving mechanisms enable the stabilizer to reach the target sites within the uterus under an ultrasound-guidance. The balloon-based stabilizer could be inserted into the uterus with a small incision for entry. The accuracy evaluation showed that the maximum error of the curving mechanism was as small as 7 mm and the standard deviation of the bending mechanism was 1.6 degree. In the experiments using a fetus model, the manipulator could be well controlled under ultrasound guidance and its curving mechanism with the balloon-based stabilizer could be clearly visualized during the implementation of fetus model supporting. The manipulator has the potential to be used in minimally invasive intrauterine surgery, though further improvements and experiments remain to be carried out.


1. Fetus stabilizing mechanism and manipulator system for intrauterine surgery
In recent years, endoscopic technology has provided a less invasive approach to surgical treatment. Minimally invasive endoscopic fetal surgery enables intrauterine intervention with reduced risks to the mother and fetus. The problem is that the fetus is floating in the amniotic fluid and its movement will disturbe the surgical treatment. Then, it is necessary to develop a fetus-holding device to support the fetus within the uterus. In a previous research, we attempted to develop a stainless steel fetal stabilizer. The outcome of this research was unfavorable although the fetus was fixed well. Other device was a suction type silicone tube stabilizer equipped with small holes to apply negative pressures on the fetal skin. However, this device was likely to cause fetal tissue congestion during a long time surgery. To overcome these issues, we propose a newly-developed manipulator with a flexible mechanism and a balloon-based supporting stabilizer. The outcome of mechanical performance tests and surgical practice tests using a fetal model under ultrasound guidance will be also described.
The prototype of the fetal support manipulator is comprised of three units: the flexible manipulator unit with a balloon-based stabilizer and a curving mechanism; the PC for controlling the bending mechanism and the syringe; the ultrasonic device for viewing the intra-operative situation of the fetus and the instrument．In general endoscopic surgery, since the viewing zone of endoscope is small and sometime the endoscope can not reach the narrow area, an ultrasonic image is used for assisting the endoscope surgery. The ultrasound is an ideal imaging modality for the diagnosis in obstetrics and gynecology. We use ultrasound to acquire the real-time intra-operative information. The position of the fetus and the umbilical cord could be identified when we insert the stabilizer into the uterus.
Fig.1 Fetus support manipulator system for intrauterine surgery．

2. Mechanism of the manipulator and stabilizing procedure
The procedure of inserting the balloon-based stabilizer to the uterus and stabilizing the fetus with the ultrasound guidance. 1) We insert the instrument with a shrunk balloon according to the position of the fetus. The spatial relationship of the fetus, the uterine wall and the instrument is observed using an ultrasonic diagnosis device. 2) The bending angle of the link part and the curving part of the manipulator are controlled by a PC according to position of the fetus. The bending and curving mechanisms are crooked and inserted into the required position with the guidance of intra-operative ultrasonic image.3) When the silicon covered curving part arrive the abdomen of the fetus, we inject the physiological saline into the balloon and adjust the balloon to optimal position for stabilizing the fetus.

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