The Smith, Lemli, Opitz Syndrome – Case Study

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The Smith, Lemli, Opitz Syndrome – Case Study 2016-11-10T12:49:26+00:00

The Smith, Lemli, Opitz Syndrome – Case Study

A couple, a woman aged 28 and her partner aged 32 reported to our clinic. The patient had previously been pregnant twice, not as the result of infertility treatment. It was a potentially healthy couple, not reporting any difficulties with getting pregnant.

The first pregnancy ended in an miscarriage during the 8th week. The cause of the miscarriage was not determined. The course of her second pregnancy did not indicate any possible health problems of the child. Pregnancy finished in the 37th week. A baby girl was born, after birth there was a suspicion of genetic disease based on external characteristics. The disease was then confirmed by genetic testing. The girl died when she was 3 months old. She was diagnosed with Smith-Lemli-Opitz genetic syndrome (SLOS).

Genetic examinations performed in the child’s parents confirmed that both were carriers of two different mutations causing this disease. Parents previously were not aware that they were carriers of such a serious disease.

Every consecutive natural pregnancy was associated with the risk of giving birth to a sick child.

INVICTA clinic team undertook the task of developing a method which would exclude this risk. A diagnostic method was developed, which allowed to eliminate the risk of ill pregnancy. A pair applied the treatment assisted with reproductive technologies – in vitro fertilization IVF-ET . As a result of hormonal stimulation 4 ripe ova were obtained, from which following the procedure of ICSI (intracytoplasmic sperm injection), three embryos were created. From each of them at the right morphological stage 1 cell was taken, which was then genetically tested for mutations occurring in the parents. The genetic test lasted two days. Embryos after biopsy developed properly.

The Genetic test result was as follows: two embryos were found to be healthy, while the third was burdened with GM. Two healthy embryos were administered to the uterus.10 days after the embryo transfer was performed the pregnancy test was positive. The patient was pregnant. Ultrasonography performed in 7th week of gestation confirmed the result. It was a single pregnancy. Pregnancy developed normally. In the 14th week of pregnancy amniopunction was performed to verify the preimplantation test result. Genetic tests confirmed that the developing fetus is not burdened with mutations present in the child’s parents. In the 36th week of pregnancy, the patient gave birth to a healthy daughter.

INVICTA Clinic once again proved that individual, not yet diagnosed diseases are not an obstacle to the use of Preimplantation Diagnosis. With years of experience and professional staff, we can help not only patients who struggle with infertility, but all those with high risk of ill pregnancies.

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