2021 - FERTILITY PRESERVATION FOR GENETIC DISEASES LEADING TO PREMATURE OVARIAN INSUFFICIENCY (POI) - Prof. Antonio La Marca
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Prof. La Marca receives by appointment at the Policlinico di Modena.

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Prof. Antonio La Marca

2021 - FERTILITY PRESERVATION FOR GENETIC DISEASES LEADING TO PREMATURE OVARIAN INSUFFICIENCY (POI)

Published in: Journal of Assisted Reproduction and Genetics

PURPOSE: The current review aims to summarise the data available concerning the applicability of fertility preservation techniques to genetic conditions at risk of premature ovarian insufficiency (POI). METHODS: A literature review through the PubMed Database was carried out. RESULTS: About 10% of cases of POI is related to genetic diseases. The most frequent conditions associated with POI are Turner syndrome and fragile X pre-mutation; mutation of BRCA 1-2 genes and several other mutations and genetic syndromes have recently been highlighted, although they rarely occur. If a diagnosis is issued before POI onset, counselling on currently available fertility preservation techniques is advisable. In case of spontaneous menarche (this can occur variably depending on the mutation) established techniques like embryo or oocyte cryopreservation can be proposed, even if, in some cases, their effectiveness may be reduced by ovarian alterations connected to the mutation. Ovarian tissue cryopreservation has recently been defined as an established medical procedure for fertility preservation in young cancer patients and may be an option for prepubertal patients. However, it is still experimental in special populations with genetic diseases causing POI. New innovative experimental techniques, like in vitro maturation of immature oocytes (IVM) and in vitro activation (IVA) of immature follicles on ovarian tissue, have shown limited but encouraging data and they will probably be available in the near future. For a correct risk-benefit evaluation, the following aspects should be considered: actual knowledge about the pathology-specific efficacy of the various techniques, the average age of onset of POI, the possible risks associated with the procedure in relation to the underlying pathology, the probability of spontaneous conception, as well as the health implications of a possible future pregnancy. CONCLUSIONS: Fertility preservation techniques represent a crucial opportunity for patients with genetic risk of POI. Early diagnosis increases the chances to apply these techniques. No specific recommendations concerning fertility preservation for each genetic pathology are available, and clinicians should first counsel the patient and her relatives about known risks and benefits of the available techniques, both those established and those considered as experimental.

Performances

Myolysis or thermoablation of uterine fibroids

Myolysis or Thermoablation is a technique currently only performed in a few centres. Prof La Marca personally handles the method and receives patients from all over the country to perform this innovative therapy.

Radiofrequency and microwaves for gynaecological pathology

Radiofrequency and microwaves have been introduced into our clinical practice with excellent results. Prof La Marca is considered among the pioneers for the use of this procedure in gynaecology and receives patients from all over the country for the ultra minimally invasive treatment of uterine fibroids and adenomyosis.

In vitro fertilisation

In vitro fertilisation is a therapeutic strategy that is far from standardised. Like all medical and surgical practices, it is greatly affected by the technical skills and cultural updating of the practitioners involved. The results are therefore by far operator-dependent. This aspect is very little known, both by clinicians and patients.

Gynaecological endocrinology

The ovarian and menstrual function of women is extremely delicate and responds to a complex interaction between the centres (hypothalamus-pituitary) and the periphery (ovary-uterus).

Transfer to the blastocyst stage

In in vitro fertilisation, fertilised oocytes (zygotes) are kept in the laboratory, in incubators, under controlled temperature conditions (37°C) and an atmosphere with 5% oxygen and 6% carbon dioxide.

Infertility

It is well known that a considerable percentage of couples experience difficulties in conceiving. It is estimated that 10-15% of the population can be classified as infertile.

Recurrent abortion

Miscarriage is defined as a termination of pregnancy that occurs spontaneously within 24 weeks of gestation.

Diagnostic and operative hysteroscopy

Diagnostic Hysteroscopy is an endoscopic technique that can be performed in an outpatient setting using a hysteroscope.

Heterologous fertilisation

For certain clinical conditions, couples desiring offspring must resort to gametes (oocytes and/or spermatozoa) from voluntary and disinterested donors in order to fulfil their reproductive desire.

Fertility preservation

Over the past three decades, a phenomenon has taken hold in the Western world that is likely to have major implications for birth rates: the scheduling of births at a significantly older age than in the past.

Gynaecology and obstetrics

Gynaecology and Obstetrics is the medical discipline par excellence in the care of women. The aim of this clinical speciality has always been to care for the patient in all phases of her life.

Diagnosis and treatment of adenomyosis

At our clinic, the diagnosis and therapy of adenomyosis is performed to the most up-to-date standards. Prof La Marca is among the clinicians with the most experience in treating adenomyosis with thermoablation, an innovative therapeutic strategy for this disease.

Diagnostic examinations

Diagnostic examinations in gynaecology and obstetrics are nowadays very accurate and their correct execution and interpretation are the basis for the right clinical picture of the patient and the most appropriate therapeutic strategy.

Fibroids therapy

Uterine leiomyomas, more commonly called fibroids, are benign solid neoformations and represent the most frequent gynaecological neoplasm in women of childbearing age.

Uterine anomalies

An arrest of the organogenic stages can cause uterine and vaginal abnormalities of varying degrees.

Endometriosis

Endometriosis is a chronic, oestrogen-dependent inflammatory disease characterised by the presence of functional endometrial tissue (glands and stroma) in extrauterine sites.

Menstrual cycle disorders

It represents the most obvious and measurable clinical sign of pubertal maturation and in most women it occurs about two to three years after the onset of telarche with an average age of around 12½ years.

Intrauterine insemination

A Level I medically assisted procreation procedure based on the deposition of spermatozoa directly inside the uterine cavity. This procedure is carried out after ovulation induction.

Outpatient ultrasound aspiration of ovarian cysts

At our clinic, Prof La Marca personally handles the method. Ultrasound-guided aspiration of ovarian cysts is an ultra-mini-invasive method that is only available in very few centres nationwide. If there are the right indications, the method allows a rapid and non-invasive solution for the pathology in question

Tubal recanalisation

At our clinic, Prof La Marca personally handles the method. Endoscopic tubal recanalisation, where indicated, is today performed in only a few centres throughout Europe. The expertise is therefore concentrated in a limited number of experts capable of performing it correctly.

Assisted laser hatching

Laser-assisted hatching (LAH) is a laboratory technique that consists of cutting a small section of the zona pellucida (ZP).

IMSI, intracytoplasmic sperm injection

This is a level II technique used in the field of in vitro fertilisation. It takes the form of a variant of traditional ICSI, both of which consist of the direct injection of a spermatozoon into the cytoplasm of the oocyte.