How To Minimize The Chances Of Pregnancy With A History Of Patau Syndrome?

Illustration of How To Minimize The Chances Of Pregnancy With A History Of Patau Syndrome?
Illustration: How To Minimize The Chances Of Pregnancy With A History Of Patau Syndrome?

If you have had children with patau syndrome, what should your husband and wife do to minimize the chances of a pregnancy with a similar disorder?

1 Answer:

Hello Desyp,

Patau syndrome is a genetic disorder due to an extra chromosome (being 3 instead of a normal pair-trisomy) 13 in some or all cells of the body. These extra chromosomes interfere with normal body growth and development, causing multiple organ defects. The risk for conceiving a baby with Patau syndrome is increased in older pregnant women (> 31 years). The incidence of Patau syndrome is 1 per 10 thousand to 27 thousand live births.

Symptoms of a patient with Patau's syndrome can be in the form of abnormalities in several organ systems including:

Musculoskeletal system: polydactyl (more than normal number of fingers), lower ear location, omphalocele, cleft lip
Nervous system: microcephaly (smaller head size), mental retardation, meningomyelocele
Impaired vision, no eyeball formation
Impaired genital formation
Kidney disorders
Disorders of the heart's structure

Some children with patau syndrome can also die from organ disorders that they experience immediately after birth. About 90% of children with Patau syndrome die before the age of 1 year.

Patau's syndrome arises from an error that occurs during the division of reproductive cells which causes an egg or sperm to carry extra chromosomes. There are some people who have translocation abnormalities (part of chromosome 13 attached to another chromosome), in those cases people who have these chromosomes may not show symptoms of Patau syndrome but can be passed down to their offspring which is more at risk of having children with Patau syndrome.

The possibility of getting pregnant again with a fetus suffering from Patau syndrome is very small (<1%) provided that the husband or wife does not experience chromosomal translocation abnormalities as described above. If there is an abnormality in translocation in the husband or wife, the risk of getting pregnant again with a fetus with Patau syndrome becomes higher.

The diagnosis of patau syndrome can be made antenatally or postnatally. Detailed ultrasound examination can see abnormalities in fetal development or heart defects. Genetic examination of samples taken by the amniocentesis or chorionic villus sampling method for fetal chromosome karyotyping can detect Patau syndrome while the fetus is still in the womb.

No special precautions can be taken to prevent Patau's syndrome. For couples with a history of having children with Patau's syndrome, you and your partner can do genetic counseling and testing to analyze each of your chromosomes if there are translocation abnormalities that have caused Patau syndrome in previous children. and can cause Patau syndrome also in subsequent pregnancies. The pregnancy program will certainly be adjusted to the results obtained from the examination. Thus the explanation from me, hopefully useful.

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