He Meckel-Gruber syndrome It is an inherited pathology which includes the appearance of fetal malformations that are lethal. In order for the baby to contract this syndrome, it is necessary for both parents to be carriers of a very rare recessive autonomic hereditary disorder in which chromosome genes 17, 11, 8, 13, 21, 24 are involved.
This disease is mainly characterized by a large set of anomalies and defects in the development of the fetus, such as microcephaly, angular forehead, badly positioned ears, imperforate anus, among many other anomalies.
In the event that both parents have this genetic inheritance, there is a 75% chance that the children will be born healthy, but of this percentage, 50% will be carriers of this disease and 25% of the children will suffer from it. The syndrome is usually diagnosed between the first and second trimesters of pregnancy and the early diagnosis has been mainly for pregnant women at high risk of recurrence. The diagnosis is important, not only for the management of the affected pregnancy, but also for the advice on future pregnancies, since in subsequent ones there is a 25% chance that it will happen again.
This rare disease can be diagnosed through trasabdominal ultrasonography during the first trimester of pregnancy. This disease is really bad, since most fetuses die inside the uterus or during the first hours after birth.
